Variant report

Variant	esv3373194
Chromosome Location	chr5:177630971-177633519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:773)
CpG islands
(count:917)
Chromatin interactive
region (count:87)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177631295-177631678	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:177631339-177631653	K562	blood:	n/a	n/a
3	ATF2	chr5:177631340-177631743	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:177632330-177633205	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:177632279-177632925	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:177631303-177631648	GM12878	blood:	n/a	n/a
7	ATF3	chr5:177631315-177631738	A549	lung:	n/a	chr5:177631400-177631409
8	ATF3	chr5:177631303-177631804	A549	lung:	n/a	chr5:177631400-177631409
9	BACH1	chr5:177631427-177631678	K562	blood:	n/a	n/a
10	BACH1	chr5:177632149-177632720	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr5:177630968-177631665	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:177632424-177633746	K562	blood:	n/a	n/a
13	BATF	chr5:177632362-177632662	GM12878	blood:	n/a	n/a
14	BCL3	chr5:177631893-177632972	GM12878	blood:	n/a	n/a
15	BCL3	chr5:177632268-177633799	A549	lung:	n/a	n/a
16	BCL3	chr5:177631005-177631763	A549	lung:	n/a	chr5:177631587-177631596 chr5:177631695-177631708
17	BCL3	chr5:177632208-177633757	A549	lung:	n/a	n/a
18	BCLAF1	chr5:177631145-177631798	GM12878	blood:	n/a	chr5:177631587-177631596 chr5:177631695-177631708
19	BCLAF1	chr5:177631029-177633250	GM12878	blood:	n/a	chr5:177631819-177631828 chr5:177631587-177631596 chr5:177631695-177631708
20	BHLHE40	chr5:177630964-177632145	K562	blood:	n/a	chr5:177631747-177631763 chr5:177631744-177631760
21	BHLHE40	chr5:177633365-177633861	K562	blood:	n/a	n/a
22	BHLHE40	chr5:177630971-177632696	GM12878	blood:	n/a	chr5:177631747-177631763 chr5:177631744-177631760 chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
23	BHLHE40	chr5:177632354-177632676	K562	blood:	n/a	chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
24	BRCA1	chr5:177630997-177631690	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:177631132-177631633	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr5:177631382-177631757	HepG2	liver:	n/a	n/a
27	BRCA1	chr5:177631450-177631753	GM12878	blood:	n/a	n/a
28	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
29	CCNT2	chr5:177630878-177632799	K562	blood:	n/a	n/a
30	CEBPB	chr5:177631413-177631697	K562	blood:	n/a	chr5:177631457-177631465
31	CEBPB	chr5:177631096-177631911	Hela-S3	cervix:	n/a	chr5:177631457-177631465
32	CEBPB	chr5:177631365-177631737	GM12878	blood:	n/a	chr5:177631457-177631465
33	CEBPB	chr5:177631169-177631795	ECC-1	luminal epithelium:	n/a	chr5:177631457-177631465
34	CEBPB	chr5:177631459-177631684	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:177631169-177631756	K562	blood:	n/a	n/a
36	CEBPD	chr5:177631110-177631853	K562	blood:	n/a	n/a
37	CEBPD	chr5:177631382-177631667	HepG2	liver:	n/a	n/a
38	CEBPD	chr5:177631114-177631772	HepG2	liver:	n/a	n/a
39	CHD1	chr5:177631117-177633075	GM12878	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
40	CHD1	chr5:177630893-177633599	H1-hESC	embryonic stem cell:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
41	CHD2	chr5:177630985-177632683	GM12878	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
42	CHD2	chr5:177630837-177632889	Hela-S3	cervix:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
43	CHD2	chr5:177632110-177632613	HepG2	liver:	n/a	chr5:177632401-177632411
44	CHD2	chr5:177631111-177631878	HepG2	liver:	n/a	chr5:177631641-177631651 chr5:177631771-177631781
45	CHD2	chr5:177631019-177631708	H1-hESC	embryonic stem cell:	n/a	chr5:177631641-177631651
46	CHD2	chr5:177631070-177633577	K562	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
47	CHD2	chr5:177633367-177633767	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr5:177631048-177632559	A549	lung:	n/a	n/a
49	CREB1	chr5:177630857-177631770	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:177631308-177631658	A549	lung:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177631446-177631496	AG04449	skin:	fetal
2	chr5:177633050-177633100	BE2_C	brain:	n/a
3	chr5:177631446-177631496	AG04449	skin:	fetal
4	chr5:177633050-177633100	BE2_C	brain:	n/a
5	chr5:177630999-177631049	GM19239	blood:	n/a
6	chr5:177631246-177631296	HCT-116	colon:	n/a
7	chr5:177631446-177631496	IMR90	lung:	fetal
8	chr5:177631499-177631549	Hepatocyte	liver:	n/a
9	chr5:177632259-177632309	SKMC	muscle:	n/a
10	chr5:177633050-177633100	HIPEpiC	eye:	n/a
11	chr5:177631246-177631296	GM12878	blood:	n/a
12	chr5:177633449-177633499	GM12892	blood:	n/a
13	chr5:177631493-177631543	HMEC	breast:	n/a
14	chr5:177631446-177631496	HRPEpiC	eye:	n/a
15	chr5:177631425-177631475	HCM	heart:	n/a
16	chr5:177631446-177631496	Hela-S3	cervix:	n/a
17	chr5:177632507-177632557	Caco-2	colon:	n/a
18	chr5:177631904-177631954	HAEpiC	amniotic membrane:	n/a
19	chr5:177631524-177631574	LNCaP	prostate:	n/a
20	chr5:177631514-177631564	ovcar-3	ovarian:	n/a
21	chr5:177632259-177632309	LNCaP	prostate:	n/a
22	chr5:177632259-177632309	H1-hESC	embryonic stem cell:	embryo
23	chr5:177631446-177631496	SK-N-SH_RA	brain:	n/a
24	chr5:177631499-177631549	AG10803	skin:	n/a
25	chr5:177631425-177631475	Jurkat	blood:	n/a
26	chr5:177631425-177631475	AG10803	skin:	n/a
27	chr5:177631425-177631475	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:177631661-177631711	NHDF-neo	bronchial:	n/a
29	chr5:177631499-177631549	Caco-2	colon:	n/a
30	chr5:177631524-177631574	SK-N-MC	brain:	n/a
31	chr5:177633449-177633499	BE2_C	brain:	n/a
32	chr5:177631524-177631574	PrEC	prostate:	n/a
33	chr5:177631493-177631543	H1-hESC	embryonic stem cell:	embryo
34	chr5:177633449-177633499	HRPEpiC	eye:	n/a
35	chr5:177631499-177631549	Hela-S3	cervix:	n/a
36	chr5:177631246-177631296	SK-N-SH_RA	brain:	n/a
37	chr5:177632259-177632309	HRE	kidney:	n/a
38	chr5:177631425-177631475	GM12878	blood:	n/a
39	chr5:177631413-177631463	T-47D	breast:	n/a
40	chr5:177631514-177631564	PFSK-1	brain:	n/a
41	chr5:177631446-177631496	HCM	heart:	n/a
42	chr5:177631904-177631954	NHBE	bronchial:	n/a
43	chr5:177630999-177631049	LNCaP	prostate:	n/a
44	chr5:177631425-177631475	HNPCEpiC	eye:	n/a
45	chr5:177630999-177631049	ProgFib	skin:	n/a
46	chr5:177631425-177631475	AG09319	gingival:	n/a
47	chr5:177631446-177631496	PANC-1	pancreas:	n/a
48	chr5:177631514-177631564	AG10803	skin:	n/a
49	chr5:177632507-177632557	HCF	heart:	n/a
50	chr5:177631499-177631549	PANC-1	pancreas:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:14228307..14229192-chr5:177631421..177631936,2	Hela-S3	cervix:
2	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
3	chr11:33061118..33061877-chr5:177631589..177632429,2	NB4	blood:
4	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
5	chr12:7052585..7053173-chr5:177631399..177632098,2	Hela-S3	cervix:
6	chr10:103124106..103124612-chr5:177631575..177632503,2	Hela-S3	cervix:
7	chr3:49377138..49377684-chr5:177631401..177631997,2	Hela-S3	cervix:
8	chr2:88354601..88355843-chr5:177630938..177632127,3	Hela-S3	cervix:
9	chr20:46130564..46131113-chr5:177631089..177631990,2	HCT-116	colon:
10	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
11	chr11:68038903..68039568-chr5:177630991..177631682,2	Hela-S3	cervix:
12	chr5:177630932..177632998-chr5:178042770..178045637,2	K562	blood:
13	chr5:177630857..177632033-chr9:127420460..127421416,3	Hela-S3	cervix:
14	chr5:177568592..177570567-chr5:177631471..177633175,2	MCF-7	breast:
15	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
16	chr5:177631876..177633528-chr5:179047045..179049302,2	MCF-7	breast:
17	chr5:177631376..177633067-chr5:178051942..178054079,2	K562	blood:
18	chr16:22018965..22019590-chr5:177631826..177632604,2	Hela-S3	cervix:
19	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
20	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
21	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
22	chr19:49122002..49122504-chr5:177631163..177631811,2	Hela-S3	cervix:
23	chr5:41924876..41925465-chr5:177631659..177632543,2	Hela-S3	cervix:
24	chr4:68410659..68411380-chr5:177631169..177631926,2	Hela-S3	cervix:
25	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
26	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
27	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
28	chr11:67777277..67778126-chr5:177631110..177631694,2	Hela-S3	cervix:
29	chr1:150038862..150039533-chr5:177630955..177631779,2	Hela-S3	cervix:
30	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
31	chr15:75918031..75918745-chr5:177631525..177632025,2	Hela-S3	cervix:
32	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
33	chr16:28834750..28835363-chr5:177631625..177632161,2	Hela-S3	cervix:
34	chr16:89989020..89989687-chr5:177631333..177632025,2	Hela-S3	cervix:
35	chr18:13542130..13544313-chr5:177631134..177632861,2	MCF-7	breast:
36	chr2:232571221..232571752-chr5:177631088..177631916,2	Hela-S3	cervix:
37	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:
38	chr5:177630949..177631720-chr6:10415352..10415889,2	Hela-S3	cervix:
39	chr5:177631102..177631899-chr7:99102632..99103132,2	Hela-S3	cervix:
40	chr5:177631246..177631924-chr6:26272486..26273166,2	Hela-S3	cervix:
41	chr16:31191094..31191972-chr5:177631009..177631688,2	Hela-S3	cervix:
42	chr2:231577272..231578255-chr5:177631283..177631863,2	Hela-S3	cervix:
43	chr3:167452249..167452899-chr5:177631538..177632416,2	Hela-S3	cervix:
44	chr3:3168464..3169011-chr5:177631146..177631968,2	Hela-S3	cervix:
45	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
46	chr19:10763984..10764557-chr5:177631722..177632283,2	Hela-S3	cervix:
47	chr5:177631424..177631973-chr8:146175658..146176523,2	HCT-116	colon:
48	chr5:177631414..177632003-chr6:155054128..155054792,2	Hela-S3	cervix:
49	chr11:65190070..65190840-chr5:177631093..177631648,3	Hela-S3	cervix:
50	chr17:73775443..73776224-chr5:177630920..177631582,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
HNRNPAB	CpG island
ENSG00000151876	chromatin interactions
ENSG00000145241	chromatin interactions
ENSG00000156709	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000252464	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000115159	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000027847	chromatin interactions
ENSG00000185716	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000168675	chromatin interactions
ENSG00000251211	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000271937	chromatin interactions
ENSG00000072062	chromatin interactions
ENSG00000224020	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000169371	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000145911	chromatin interactions
ENSG00000072756	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000113240	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000050767	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000172071	chromatin interactions
ENSG00000170631	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000187514	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000169220	chromatin interactions
ENSG00000116918	chromatin interactions
ENSG00000119326	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000113732	chromatin interactions
ENSG00000114316	chromatin interactions
ENSG00000173653	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000179152	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000172086	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000115641	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000146047	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000213079	chromatin interactions
ENSG00000182831	chromatin interactions
ENSG00000135932	chromatin interactions
ENSG00000145916	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000233461	chromatin interactions
ENSG00000114030	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000171103	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000269363	chromatin interactions
ENSG00000164508	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553496929	chr5:177630988-177630989	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs560584461	chr5:177631012-177631013	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs572607120	chr5:177631030-177631031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs546198634	chr5:177631070-177631071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
5	rs564363559	chr5:177631105-177631106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
6	rs531990615	chr5:177631168-177631169	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
7	rs550210423	chr5:177631265-177631266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
8	rs114043661	chr5:177631277-177631278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
9	rs2913753	chr5:177631308-177631309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	54 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371320230	chr5:177631315-177631316	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
11	rs547616079	chr5:177631322-177631323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
12	rs77485572	chr5:177631367-177631368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
13	rs6899207	chr5:177631411-177631412	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	65 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550955362	chr5:177631456-177631457	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
15	rs55653122	chr5:177631468-177631469	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537307687	chr5:177631495-177631496	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
17	rs555398723	chr5:177631509-177631510	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	71 gene(s)	Overlapped CNVs	n/a
18	rs138283723	chr5:177631517-177631518	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	71 gene(s)	Overlapped CNVs	n/a
19	rs534795122	chr5:177631554-177631555	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
20	rs143881773	chr5:177631556-177631557	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
21	rs188993620	chr5:177631558-177631559	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
22	rs146897728	chr5:177631560-177631561	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
23	rs370707939	chr5:177631564-177631565	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
24	rs11546684	chr5:177631567-177631568	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576380451	chr5:177631628-177631629	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
26	rs562226717	chr5:177631656-177631657	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	72 gene(s)	Overlapped CNVs	n/a
27	rs180935005	chr5:177631660-177631661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
28	rs541221472	chr5:177631662-177631663	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
29	rs559559756	chr5:177631663-177631664	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
30	rs532826080	chr5:177631748-177631749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	71 gene(s)	Overlapped CNVs	n/a
31	rs551192335	chr5:177631769-177631770	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
32	rs17080447	chr5:177631783-177631784	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	68 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370637878	chr5:177631850-177631851	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
34	rs34238887	chr5:177631943-177631944	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
35	rs11546685	chr5:177631946-177631947	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
36	rs548997959	chr5:177631985-177631986	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
37	rs567427514	chr5:177632015-177632016	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
38	rs564443814	chr5:177632070-177632071	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
39	rs534964892	chr5:177632081-177632082	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs148368346	chr5:177632120-177632121	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
41	rs533406836	chr5:177632277-177632278	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
42	rs571468994	chr5:177632291-177632292	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs539913183	chr5:177632298-177632299	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs557986161	chr5:177632300-177632301	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs7720158	chr5:177632303-177632304	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs570567319	chr5:177632361-177632362	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs7720188	chr5:177632382-177632383	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs113140855	chr5:177632422-177632423	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs541337474	chr5:177632426-177632427	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
50	rs374328792	chr5:177632428-177632429	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177630200-177632400	Active TSS	K562	blood
2	chr5:177630200-177632600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:177630200-177632600	Active TSS	Hela-S3	cervix
4	chr5:177630600-177631600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:177630600-177632600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:177630600-177632800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:177630800-177631000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177630800-177631000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:177630800-177631000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:177630800-177631000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:177630800-177631000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr5:177630800-177631000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr5:177630800-177631000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr5:177630800-177631000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:177630800-177631000	Active TSS	Right Atrium	heart
16	chr5:177630800-177631000	Enhancers	Spleen	Spleen
17	chr5:177630800-177631000	Flanking Active TSS	HSMM	muscle
18	chr5:177630800-177631000	Flanking Active TSS	HSMMtube	muscle
19	chr5:177630800-177631000	Flanking Active TSS	NHLF	lung
20	chr5:177630800-177631200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:177630800-177631200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:177630800-177631200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr5:177630800-177631200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:177630800-177631200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr5:177630800-177631200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:177630800-177631200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr5:177630800-177631200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:177630800-177631200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:177630800-177631200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:177630800-177631200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:177630800-177631200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:177630800-177631200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:177630800-177631200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:177630800-177631200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:177630800-177631200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:177630800-177631200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr5:177630800-177631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr5:177630800-177631200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:177630800-177631200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:177630800-177631200	Flanking Active TSS	Fetal Thymus	thymus
42	chr5:177630800-177631200	Flanking Active TSS	Pancreas	Pancrea
43	chr5:177630800-177631200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:177630800-177631200	Flanking Active TSS	HepG2	liver
45	chr5:177630800-177631200	Flanking Active TSS	HMEC	breast
46	chr5:177630800-177631200	Flanking Active TSS	HUVEC	blood vessel
47	chr5:177630800-177631200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:177630800-177631200	Flanking Active TSS	NH-A	brain
49	chr5:177630800-177631200	Flanking Active TSS	Osteobl	bone
50	chr5:177630800-177631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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