Variant report

Variant	esv3404661
Chromosome Location	chr5:177629746-177634244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:976)
Chromatin interactive
region (count:91)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr5:177631303-177631648	GM12878	blood:	n/a	n/a
5	ATF2	chr5:177632330-177633205	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:177632279-177632925	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:177633989-177634592	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr5:177631315-177631738	A549	lung:	n/a	chr5:177631400-177631409
9	ATF3	chr5:177631303-177631804	A549	lung:	n/a	chr5:177631400-177631409
10	BACH1	chr5:177632424-177633746	K562	blood:	n/a	n/a
11	BACH1	chr5:177632149-177632720	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:177631427-177631678	K562	blood:	n/a	n/a
13	BACH1	chr5:177633956-177634148	K562	blood:	n/a	n/a
14	BACH1	chr5:177630968-177631665	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr5:177632362-177632662	GM12878	blood:	n/a	n/a
16	BCL3	chr5:177631893-177632972	GM12878	blood:	n/a	n/a
17	BCL3	chr5:177633896-177634402	A549	lung:	n/a	n/a
18	BCL3	chr5:177632268-177633799	A549	lung:	n/a	n/a
19	BCL3	chr5:177632208-177633757	A549	lung:	n/a	n/a
20	BCL3	chr5:177631005-177631763	A549	lung:	n/a	chr5:177631587-177631596 chr5:177631695-177631708
21	BCLAF1	chr5:177631029-177633250	GM12878	blood:	n/a	chr5:177631819-177631828 chr5:177631587-177631596 chr5:177631695-177631708
22	BCLAF1	chr5:177631145-177631798	GM12878	blood:	n/a	chr5:177631587-177631596 chr5:177631695-177631708
23	BHLHE40	chr5:177630971-177632696	GM12878	blood:	n/a	chr5:177631747-177631763 chr5:177631744-177631760 chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
24	BHLHE40	chr5:177633365-177633861	K562	blood:	n/a	n/a
25	BHLHE40	chr5:177630964-177632145	K562	blood:	n/a	chr5:177631747-177631763 chr5:177631744-177631760
26	BHLHE40	chr5:177632354-177632676	K562	blood:	n/a	chr5:177632371-177632387 chr5:177632373-177632389 chr5:177632379-177632395
27	BRCA1	chr5:177631450-177631753	GM12878	blood:	n/a	n/a
28	BRCA1	chr5:177631132-177631633	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr5:177631382-177631757	HepG2	liver:	n/a	n/a
30	BRCA1	chr5:177630997-177631690	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr5:177630824-177631697	K562	blood:	n/a	n/a
32	CCNT2	chr5:177630878-177632799	K562	blood:	n/a	n/a
33	CEBPB	chr5:177631413-177631697	K562	blood:	n/a	chr5:177631457-177631465
34	CEBPB	chr5:177631169-177631795	ECC-1	luminal epithelium:	n/a	chr5:177631457-177631465
35	CEBPB	chr5:177631459-177631684	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:177631365-177631737	GM12878	blood:	n/a	chr5:177631457-177631465
37	CEBPB	chr5:177631096-177631911	Hela-S3	cervix:	n/a	chr5:177631457-177631465
38	CEBPD	chr5:177631114-177631772	HepG2	liver:	n/a	n/a
39	CEBPD	chr5:177631382-177631667	HepG2	liver:	n/a	n/a
40	CEBPD	chr5:177631169-177631756	K562	blood:	n/a	n/a
41	CEBPD	chr5:177631110-177631853	K562	blood:	n/a	n/a
42	CHD1	chr5:177631117-177633075	GM12878	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
43	CHD1	chr5:177630893-177633599	H1-hESC	embryonic stem cell:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
44	CHD2	chr5:177629787-177630387	K562	blood:	n/a	n/a
45	CHD2	chr5:177632110-177632613	HepG2	liver:	n/a	chr5:177632401-177632411
46	CHD2	chr5:177631019-177631708	H1-hESC	embryonic stem cell:	n/a	chr5:177631641-177631651
47	CHD2	chr5:177631070-177633577	K562	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
48	CHD2	chr5:177631111-177631878	HepG2	liver:	n/a	chr5:177631641-177631651 chr5:177631771-177631781
49	CHD2	chr5:177630985-177632683	GM12878	blood:	n/a	chr5:177632401-177632411 chr5:177631641-177631651 chr5:177631771-177631781
50	CHD2	chr5:177633367-177633767	Hela-S3	cervix:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177631413-177631463	AG04450	lung:	fetal
2	chr5:177632507-177632557	MCF-7	breast:	n/a
3	chr5:177631493-177631543	NHBE	bronchial:	n/a
4	chr5:177631246-177631296	AG09319	gingival:	n/a
5	chr5:177632259-177632309	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:177630081-177630131	Hepatocyte	liver:	n/a
7	chr5:177633449-177633499	ProgFib	skin:	n/a
8	chr5:177630081-177630131	HepG2	liver:	n/a
9	chr5:177631499-177631549	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:177631493-177631543	GM12878	blood:	n/a
11	chr5:177631446-177631496	Hela-S3	cervix:	n/a
12	chr5:177631493-177631543	AG04449	skin:	fetal
13	chr5:177631499-177631549	K562	blood:	n/a
14	chr5:177631493-177631543	AG09309	skin:	n/a
15	chr5:177631493-177631543	ECC-1	luminal epithelium:	n/a
16	chr5:177631413-177631463	NH-A	brain:	n/a
17	chr5:177633449-177633499	Caco-2	colon:	n/a
18	chr5:177631514-177631564	GM12878	blood:	n/a
19	chr5:177633050-177633100	HepG2	liver:	n/a
20	chr5:177633050-177633100	HRCEpiC	kidney:	n/a
21	chr5:177632259-177632309	NHDF-neo	bronchial:	n/a
22	chr5:177631246-177631296	NH-A	brain:	n/a
23	chr5:177631661-177631711	U87	brain:	n/a
24	chr5:177631904-177631954	A549	lung:	n/a
25	chr5:177631524-177631574	HEEpiC	esophagus:	n/a
26	chr5:177630081-177630131	HAEpiC	amniotic membrane:	n/a
27	chr5:177631493-177631543	NH-A	brain:	n/a
28	chr5:177630999-177631049	Hepatocyte	liver:	n/a
29	chr5:177631904-177631954	LNCaP	prostate:	n/a
30	chr5:177633449-177633499	NB4	blood:	n/a
31	chr5:177631524-177631574	AG09309	skin:	n/a
32	chr5:177632507-177632557	NH-A	brain:	n/a
33	chr5:177633449-177633499	RPTEC	kidney:	n/a
34	chr5:177631499-177631549	Hepatocyte	liver:	n/a
35	chr5:177631493-177631543	HCF	heart:	n/a
36	chr5:177631246-177631296	HAEpiC	amniotic membrane:	n/a
37	chr5:177631446-177631496	HCPEpiC	choroid plexus:	n/a
38	chr5:177631661-177631711	NB4	blood:	n/a
39	chr5:177631514-177631564	HIPEpiC	eye:	n/a
40	chr5:177631904-177631954	HepG2	liver:	n/a
41	chr5:177631446-177631496	AoSMC	blood vessel:	n/a
42	chr5:177633050-177633100	AG09309	skin:	n/a
43	chr5:177631661-177631711	HRCEpiC	kidney:	n/a
44	chr5:177631413-177631463	HCT-116	colon:	n/a
45	chr5:177631413-177631463	GM19239	blood:	n/a
46	chr5:177631493-177631543	SK-N-SH_RA	brain:	n/a
47	chr5:177631493-177631543	HL-60	blood:	n/a
48	chr5:177631493-177631543	NT2-D1	testis:	n/a
49	chr5:177630999-177631049	BJ	skin:	n/a
50	chr5:177631499-177631549	SK-N-SH_RA	brain:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177630203..177632374-chr5:179049408..179051401,2	MCF-7	breast:
2	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
3	chr5:177631414..177632003-chr6:155054128..155054792,2	Hela-S3	cervix:
4	chr5:177630949..177631720-chr6:10415352..10415889,2	Hela-S3	cervix:
5	chr17:8076309..8077098-chr5:177631338..177632027,2	Hela-S3	cervix:
6	chr19:19496792..19497635-chr5:177631182..177631713,2	Hela-S3	cervix:
7	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
8	chr5:176980028..176981859-chr5:177628460..177630883,2	K562	blood:
9	chr10:74033146..74034168-chr5:177630872..177632336,3	Hela-S3	cervix:
10	chr5:176942187..176944181-chr5:177630972..177633765,3	K562	blood:
11	chr18:13542130..13544313-chr5:177631134..177632861,2	MCF-7	breast:
12	chr10:43902752..43903555-chr5:177631240..177631950,2	Hela-S3	cervix:
13	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:
14	chr14:104387417..104388130-chr5:177631502..177632011,2	Hela-S3	cervix:
15	chr11:66610398..66611087-chr5:177631492..177632244,2	Hela-S3	cervix:
16	chr3:49377138..49377684-chr5:177631401..177631997,2	Hela-S3	cervix:
17	chr5:177631246..177631924-chr6:26272486..26273166,2	Hela-S3	cervix:
18	chr5:177579578..177582486-chr5:177629664..177632966,4	K562	blood:
19	chr5:177631720..177633728-chr6:25726576..25729132,2	K562	blood:
20	chr5:177568592..177570567-chr5:177631471..177633175,2	MCF-7	breast:
21	chr20:46130564..46131113-chr5:177631089..177631990,2	HCT-116	colon:
22	chr5:177631101..177632026-chrX:129299075..129299814,2	Hela-S3	cervix:
23	chr11:68038903..68039568-chr5:177630991..177631682,2	Hela-S3	cervix:
24	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:
25	chr19:14228307..14229192-chr5:177631421..177631936,2	Hela-S3	cervix:
26	chr17:79828726..79829465-chr5:177631079..177631979,2	HCT-116	colon:
27	chr19:17326110..17326840-chr5:177630959..177631880,2	Hela-S3	cervix:
28	chr17:73775443..73776224-chr5:177630920..177631582,2	Hela-S3	cervix:
29	chr11:33061118..33061877-chr5:177631589..177632429,2	NB4	blood:
30	chr12:7052585..7053173-chr5:177631399..177632098,2	Hela-S3	cervix:
31	chr16:22018965..22019590-chr5:177631826..177632604,2	Hela-S3	cervix:
32	chr3:44379603..44380577-chr5:177631311..177632037,2	Hela-S3	cervix:
33	chr17:8339330..8340322-chr5:177631318..177632293,2	Hela-S3	cervix:
34	chr3:122233481..122234070-chr5:177631324..177631914,2	Hela-S3	cervix:
35	chr17:59477135..59479003-chr5:177630296..177633273,2	MCF-7	breast:
36	chr5:176792166..176794186-chr5:177632419..177635026,2	K562	blood:
37	chr16:28834750..28835363-chr5:177631625..177632161,2	Hela-S3	cervix:
38	chr2:29093118..29093753-chr5:177631394..177631994,2	NB4	blood:
39	chr5:177573926..177577755-chr5:177626660..177630083,3	MCF-7	breast:
40	chr11:65190070..65190840-chr5:177631093..177631648,3	Hela-S3	cervix:
41	chr3:3168464..3169011-chr5:177631146..177631968,2	Hela-S3	cervix:
42	chr5:177630883..177632521-chr5:178985029..178986804,2	MCF-7	breast:
43	chr5:177630857..177632033-chr9:127420460..127421416,3	Hela-S3	cervix:
44	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
45	chr5:177629964..177631778-chr5:178045699..178047442,2	K562	blood:
46	chr5:41924876..41925465-chr5:177631659..177632543,2	Hela-S3	cervix:
47	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
48	chr5:177545145..177547766-chr5:177633548..177635586,2	K562	blood:
49	chr2:231577272..231578255-chr5:177631283..177631863,2	Hela-S3	cervix:
50	chr1:231663667..231664543-chr5:177631127..177631859,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPAB-4	chr5:177634134-177634226	NONHSAT105524

No data

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

Extended variants
information (count: 223 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534548314	chr5:177629757-177629758	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs373469340	chr5:177629762-177629763	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs559188192	chr5:177629772-177629773	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs2961673	chr5:177629801-177629802	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs181992517	chr5:177629808-177629809	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs537497790	chr5:177629846-177629847	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs139948239	chr5:177629849-177629850	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs369974165	chr5:177629857-177629858	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs375166362	chr5:177629895-177629896	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs150131153	chr5:177629915-177629916	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs574318565	chr5:177629936-177629937	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs541794477	chr5:177629953-177629954	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs536197289	chr5:177630009-177630010	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs115093861	chr5:177630018-177630019	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs2913817	chr5:177630040-177630041	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs545701060	chr5:177630127-177630128	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs563891040	chr5:177630129-177630130	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs181039024	chr5:177630139-177630140	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs531422410	chr5:177630183-177630184	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs544343048	chr5:177630206-177630207	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs562983274	chr5:177630217-177630218	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs530162370	chr5:177630218-177630219	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs548561659	chr5:177630219-177630220	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs566914138	chr5:177630224-177630225	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs187413772	chr5:177630233-177630234	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs552909726	chr5:177630235-177630236	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs555197029	chr5:177630245-177630246	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs372169893	chr5:177630248-177630249	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs571030495	chr5:177630249-177630250	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs190332038	chr5:177630254-177630255	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs183017124	chr5:177630256-177630257	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs10066437	chr5:177630261-177630262	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10061499	chr5:177630267-177630268	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs190204385	chr5:177630269-177630270	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs572079211	chr5:177630286-177630287	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs375504276	chr5:177630287-177630288	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs55833504	chr5:177630288-177630289	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs571710404	chr5:177630318-177630319	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs545662182	chr5:177630323-177630324	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs557643027	chr5:177630330-177630331	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs564027516	chr5:177630338-177630339	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs113643159	chr5:177630342-177630343	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs112084626	chr5:177630347-177630348	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs375013857	chr5:177630369-177630370	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs34133401	chr5:177630465-177630466	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs80012570	chr5:177630529-177630530	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs111458855	chr5:177630539-177630540	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs529112990	chr5:177630546-177630547	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs192756917	chr5:177630556-177630557	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs183678792	chr5:177630563-177630564	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	12 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:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177621600-177630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:177622200-177630200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:177622400-177630800	Weak transcription	Liver	Liver
4	chr5:177624000-177630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177624200-177630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:177624200-177630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:177626600-177630000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:177627400-177630600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:177627600-177630800	Weak transcription	Fetal Lung	lung
10	chr5:177627800-177630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:177627800-177630800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:177628000-177629800	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:177628400-177630200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:177628600-177629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:177628600-177630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:177628800-177629800	Enhancers	K562	blood
17	chr5:177628800-177630200	Enhancers	Spleen	Spleen
18	chr5:177629000-177630800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:177629000-177630800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:177629200-177629800	Enhancers	Hela-S3	cervix
21	chr5:177629200-177630200	Weak transcription	HSMM	muscle
22	chr5:177629200-177630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:177629200-177630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:177629200-177630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:177629200-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:177629200-177630800	Weak transcription	Colonic Mucosa	Colon
27	chr5:177629200-177630800	Weak transcription	Lung	lung
28	chr5:177629200-177630800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:177629200-177630800	Weak transcription	A549	lung
30	chr5:177629200-177630800	Weak transcription	NH-A	brain
31	chr5:177629200-177630800	Weak transcription	NHEK	skin
32	chr5:177629200-177630800	Weak transcription	NHLF	lung
33	chr5:177629400-177630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:177629400-177630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:177629400-177630800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:177629400-177630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:177629400-177630800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:177629400-177630800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:177629400-177630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:177629400-177630800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:177629400-177630800	Weak transcription	Esophagus	oesophagus
42	chr5:177629400-177630800	Weak transcription	HMEC	breast
43	chr5:177629400-177630800	Weak transcription	Osteobl	bone
44	chr5:177629600-177630600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:177629600-177630600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:177629600-177630800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:177629800-177630200	Flanking Active TSS	Hela-S3	cervix
48	chr5:177629800-177630200	Flanking Active TSS	K562	blood
49	chr5:177629800-177630800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:177629800-177630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links