Variant report

Variant	esv3357614
Chromosome Location	chr5:177630371-177632919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:752)
CpG islands
(count:795)
Chromatin interactive
region (count:88)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:752 , 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	chr5:177632330-177633205	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:177632279-177632925	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:177631340-177631743	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:177631303-177631648	GM12878	blood:	n/a	n/a
7	ATF3	chr5:177631303-177631804	A549	lung:	n/a	chr5:177631400-177631409
8	ATF3	chr5:177631315-177631738	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	chr5:177632268-177633799	A549	lung:	n/a	n/a
15	BCL3	chr5:177631005-177631763	A549	lung:	n/a	chr5:177631587-177631596 chr5:177631695-177631708
16	BCL3	chr5:177632208-177633757	A549	lung:	n/a	n/a
17	BCL3	chr5:177631893-177632972	GM12878	blood:	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	chr5:177630971-177632696	GM12878	blood:	n/a	chr5:177631747-177631763 chr5:177631744-177631760 chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
22	BHLHE40	chr5:177632354-177632676	K562	blood:	n/a	chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
23	BRCA1	chr5:177631450-177631753	GM12878	blood:	n/a	n/a
24	BRCA1	chr5:177631382-177631757	HepG2	liver:	n/a	n/a
25	BRCA1	chr5:177631132-177631633	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr5:177630997-177631690	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
28	CCNT2	chr5:177630878-177632799	K562	blood:	n/a	n/a
29	CEBPB	chr5:177631096-177631911	Hela-S3	cervix:	n/a	chr5:177631457-177631465
30	CEBPB	chr5:177631365-177631737	GM12878	blood:	n/a	chr5:177631457-177631465
31	CEBPB	chr5:177631413-177631697	K562	blood:	n/a	chr5:177631457-177631465
32	CEBPB	chr5:177631169-177631795	ECC-1	luminal epithelium:	n/a	chr5:177631457-177631465
33	CEBPB	chr5:177631459-177631684	HepG2	liver:	n/a	n/a
34	CEBPD	chr5:177631382-177631667	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:177631169-177631756	K562	blood:	n/a	n/a
36	CEBPD	chr5:177631114-177631772	HepG2	liver:	n/a	n/a
37	CEBPD	chr5:177631110-177631853	K562	blood:	n/a	n/a
38	CHD1	chr5:177630893-177633599	H1-hESC	embryonic stem cell:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
39	CHD1	chr5:177631117-177633075	GM12878	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
40	CHD2	chr5:177630837-177632889	Hela-S3	cervix:	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	chr5:177632110-177632613	HepG2	liver:	n/a	chr5:177632401-177632411
43	CHD2	chr5:177631019-177631708	H1-hESC	embryonic stem cell:	n/a	chr5:177631641-177631651
44	CHD2	chr5:177629787-177630387	K562	blood:	n/a	n/a
45	CHD2	chr5:177631111-177631878	HepG2	liver:	n/a	chr5:177631641-177631651 chr5:177631771-177631781
46	CHD2	chr5:177631070-177633577	K562	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
47	CREB1	chr5:177631308-177631658	A549	lung:	n/a	n/a
48	CREB1	chr5:177630857-177631770	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr5:177631048-177632559	A549	lung:	n/a	n/a
50	CTCF	chr5:177632207-177632319	GM10266	blood:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177632259-177632309	GM12891	blood:	n/a
2	chr5:177631246-177631296	SK-N-SH_RA	brain:	n/a
3	chr5:177632259-177632309	GM12891	blood:	n/a
4	chr5:177631246-177631296	SK-N-SH_RA	brain:	n/a
5	chr5:177631661-177631711	Hela-S3	cervix:	n/a
6	chr5:177631446-177631496	GM12892	blood:	n/a
7	chr5:177632259-177632309	U87	brain:	n/a
8	chr5:177631904-177631954	BE2_C	brain:	n/a
9	chr5:177632507-177632557	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:177630999-177631049	IMR90	lung:	fetal
11	chr5:177631904-177631954	NHBE	bronchial:	n/a
12	chr5:177631524-177631574	ovcar-3	ovarian:	n/a
13	chr5:177631524-177631574	GM12878	blood:	n/a
14	chr5:177631493-177631543	LNCaP	prostate:	n/a
15	chr5:177631524-177631574	BE2_C	brain:	n/a
16	chr5:177631413-177631463	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:177630999-177631049	SK-N-SH_RA	brain:	n/a
18	chr5:177630999-177631049	HAEpiC	amniotic membrane:	n/a
19	chr5:177631524-177631574	GM06990	blood:	n/a
20	chr5:177631514-177631564	GM19239	blood:	n/a
21	chr5:177631661-177631711	AG09319	gingival:	n/a
22	chr5:177630999-177631049	GM12892	blood:	n/a
23	chr5:177631246-177631296	U87	brain:	n/a
24	chr5:177631425-177631475	HCM	heart:	n/a
25	chr5:177631425-177631475	PFSK-1	brain:	n/a
26	chr5:177632507-177632557	U87	brain:	n/a
27	chr5:177631661-177631711	HAEpiC	amniotic membrane:	n/a
28	chr5:177631425-177631475	HCF	heart:	n/a
29	chr5:177631446-177631496	ECC-1	luminal epithelium:	n/a
30	chr5:177631904-177631954	AG04449	skin:	fetal
31	chr5:177631514-177631564	BE2_C	brain:	n/a
32	chr5:177632259-177632309	SK-N-SH	brain:	n/a
33	chr5:177631446-177631496	HUVEC	blood vessel:	n/a
34	chr5:177632507-177632557	BE2_C	brain:	n/a
35	chr5:177631446-177631496	RPTEC	kidney:	n/a
36	chr5:177631514-177631564	MCF-7	breast:	n/a
37	chr5:177631499-177631549	GM12878	blood:	n/a
38	chr5:177632507-177632557	MCF-7	breast:	n/a
39	chr5:177631514-177631564	Caco-2	colon:	n/a
40	chr5:177631514-177631564	ECC-1	luminal epithelium:	n/a
41	chr5:177631425-177631475	BE2_C	brain:	n/a
42	chr5:177631499-177631549	PrEC	prostate:	n/a
43	chr5:177632507-177632557	HEK293	kidney:	embryo
44	chr5:177631904-177631954	Hepatocyte	liver:	n/a
45	chr5:177631661-177631711	LNCaP	prostate:	n/a
46	chr5:177631661-177631711	SKMC	muscle:	n/a
47	chr5:177631904-177631954	T-47D	breast:	n/a
48	chr5:177631425-177631475	SK-N-SH	brain:	n/a
49	chr5:177631661-177631711	GM12891	blood:	n/a
50	chr5:177631246-177631296	GM12878	blood:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177578534..177581104-chr5:177631476..177634038,2	MCF-7	breast:
2	chr2:106015048..106015549-chr5:177631016..177631612,2	Hela-S3	cervix:
3	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
4	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
5	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
6	chr10:74033146..74034168-chr5:177630872..177632336,3	Hela-S3	cervix:
7	chr4:68410659..68411380-chr5:177631169..177631926,2	Hela-S3	cervix:
8	chr16:9185279..9185783-chr5:177631110..177631832,2	Hela-S3	cervix:
9	chr5:177631720..177633728-chr6:25726576..25729132,2	K562	blood:
10	chr19:54704161..54704805-chr5:177631220..177631987,2	Hela-S3	cervix:
11	chr11:118965667..118966654-chr5:177631037..177631790,2	NB4	blood:
12	chr19:14228307..14229192-chr5:177631421..177631936,2	Hela-S3	cervix:
13	chr5:177631102..177631899-chr7:99102632..99103132,2	Hela-S3	cervix:
14	chr2:29093118..29093753-chr5:177631394..177631994,2	NB4	blood:
15	chr5:172410801..172412903-chr5:177629847..177631415,2	MCF-7	breast:
16	chr5:177578478..177582579-chr5:177629428..177633237,12	MCF-7	breast:
17	chr5:176980028..176981859-chr5:177628460..177630883,2	K562	blood:
18	chr17:8339330..8340322-chr5:177631318..177632293,2	Hela-S3	cervix:
19	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
20	chr5:177579489..177582257-chr5:177628656..177632410,3	K562	blood:
21	chr16:28834750..28835363-chr5:177631625..177632161,2	Hela-S3	cervix:
22	chr17:79828726..79829465-chr5:177631079..177631979,2	HCT-116	colon:
23	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
24	chr11:66610398..66611087-chr5:177631492..177632244,2	Hela-S3	cervix:
25	chr1:231663667..231664543-chr5:177631127..177631859,2	Hela-S3	cervix:
26	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
27	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
28	chr19:3982997..3985280-chr5:177631558..177634299,2	K562	blood:
29	chr5:177568592..177570567-chr5:177631471..177633175,2	MCF-7	breast:
30	chr16:22018965..22019590-chr5:177631826..177632604,2	Hela-S3	cervix:
31	chr16:89989020..89989687-chr5:177631333..177632025,2	Hela-S3	cervix:
32	chr5:41924876..41925465-chr5:177631659..177632543,2	Hela-S3	cervix:
33	chr11:65190070..65190840-chr5:177631093..177631648,3	Hela-S3	cervix:
34	chr5:177556137..177558058-chr5:177629793..177631358,2	MCF-7	breast:
35	chr5:177025539..177028252-chr5:177630597..177632555,2	K562	blood:
36	chr19:17326110..17326840-chr5:177630959..177631880,2	Hela-S3	cervix:
37	chr11:33061118..33061877-chr5:177631589..177632429,2	NB4	blood:
38	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
39	chr5:177631414..177632003-chr6:155054128..155054792,2	Hela-S3	cervix:
40	chr2:157292564..157293208-chr5:177630914..177631599,2	Hela-S3	cervix:
41	chr5:177630932..177632998-chr5:178042770..178045637,2	K562	blood:
42	chr15:75918031..75918745-chr5:177631525..177632025,2	Hela-S3	cervix:
43	chr19:19496792..19497635-chr5:177631182..177631713,2	Hela-S3	cervix:
44	chr14:104387417..104388130-chr5:177631502..177632011,2	Hela-S3	cervix:
45	chr5:177631101..177632026-chrX:129299075..129299814,2	Hela-S3	cervix:
46	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
47	chr5:177631253..177632828-chr5:178016105..178018488,2	MCF-7	breast:
48	chr1:150038862..150039533-chr5:177630955..177631779,2	Hela-S3	cervix:
49	chr16:31191094..31191972-chr5:177631009..177631688,2	Hela-S3	cervix:
50	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
HNRNPAB	CpG island
ENSG00000167491	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000169371	chromatin interactions
ENSG00000179152	chromatin interactions
ENSG00000114316	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000173653	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000072756	chromatin interactions
ENSG00000187514	chromatin interactions
ENSG00000168675	chromatin interactions
ENSG00000113240	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000251211	chromatin interactions
ENSG00000164508	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000213079	chromatin interactions
ENSG00000252464	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000271937	chromatin interactions
ENSG00000171103	chromatin interactions
ENSG00000170631	chromatin interactions
ENSG00000119326	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000156709	chromatin interactions
ENSG00000233461	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000185716	chromatin interactions
ENSG00000196652	chromatin interactions
ENSG00000027847	chromatin interactions
ENSG00000115641	chromatin interactions
ENSG00000146047	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000182831	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000172071	chromatin interactions
ENSG00000169220	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000145911	chromatin interactions
ENSG00000146067	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000272459	chromatin interactions
ENSG00000050767	chromatin interactions
ENSG00000114030	chromatin interactions
ENSG00000145241	chromatin interactions
ENSG00000145916	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000224020	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000115159	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000116918	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000170889	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000135932	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000269363	chromatin interactions
ENSG00000172086	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000113732	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000072062	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000238923	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34133401	chr5:177630465-177630466	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs80012570	chr5:177630529-177630530	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs111458855	chr5:177630539-177630540	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs529112990	chr5:177630546-177630547	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs192756917	chr5:177630556-177630557	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs183678792	chr5:177630563-177630564	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs552870568	chr5:177630573-177630574	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs188056841	chr5:177630576-177630577	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs528553501	chr5:177630605-177630606	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs111652387	chr5:177630666-177630667	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs62388713	chr5:177630668-177630669	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112432882	chr5:177630729-177630730	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs568568682	chr5:177630746-177630747	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs188627700	chr5:177630751-177630752	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs192593871	chr5:177630781-177630782	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs10586409	chr5:177630810-177630811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs545238420	chr5:177630811-177630812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs565300622	chr5:177630820-177630821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs201474807	chr5:177630822-177630823	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs143497935	chr5:177630839-177630840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs200891622	chr5:177630842-177630843	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs33918751	chr5:177630844-177630845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs200075729	chr5:177630845-177630846	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs184980243	chr5:177630864-177630865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs9329138	chr5:177630913-177630914	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147064670	chr5:177630928-177630929	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs9329139	chr5:177630939-177630940	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555499403	chr5:177630948-177630949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs150652249	chr5:177630949-177630950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs78263441	chr5:177630951-177630952	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs563387741	chr5:177630952-177630953	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs78833348	chr5:177630959-177630960	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs542317620	chr5:177630962-177630963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177621600-177630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:177622400-177630800	Weak transcription	Liver	Liver
3	chr5:177624000-177630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:177624200-177630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:177624200-177630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:177627400-177630600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:177627600-177630800	Weak transcription	Fetal Lung	lung
8	chr5:177627800-177630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:177627800-177630800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:177628600-177630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:177629000-177630800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:177629000-177630800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:177629200-177630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:177629200-177630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:177629200-177630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:177629200-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:177629200-177630800	Weak transcription	Colonic Mucosa	Colon
18	chr5:177629200-177630800	Weak transcription	Lung	lung
19	chr5:177629200-177630800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:177629200-177630800	Weak transcription	A549	lung
21	chr5:177629200-177630800	Weak transcription	NH-A	brain
22	chr5:177629200-177630800	Weak transcription	NHEK	skin
23	chr5:177629200-177630800	Weak transcription	NHLF	lung
24	chr5:177629400-177630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:177629400-177630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:177629400-177630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:177629400-177630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:177629400-177630800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:177629400-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:177629400-177630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:177629400-177630800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:177629400-177630800	Weak transcription	Esophagus	oesophagus
33	chr5:177629400-177630800	Weak transcription	HMEC	breast
34	chr5:177629400-177630800	Weak transcription	Osteobl	bone
35	chr5:177629600-177630600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:177629600-177630600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:177629600-177630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:177629800-177630800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:177629800-177630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:177630000-177630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:177630200-177630400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:177630200-177630600	Enhancers	Dnd41	blood
43	chr5:177630200-177630800	Weak transcription	Spleen	Spleen
44	chr5:177630200-177630800	Active TSS	HSMM	muscle
45	chr5:177630200-177632400	Active TSS	K562	blood
46	chr5:177630200-177632600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:177630200-177632600	Active TSS	Hela-S3	cervix
48	chr5:177630400-177630800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:177630600-177630800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:177630600-177630800	Enhancers	Primary B cells from cord blood	blood

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