Variant report

Variant	esv1801975
Chromosome Location	chr4:57267406-57297335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:57276375-57276720	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:57291148-57291367	K562	blood:	n/a	n/a
3	ARID3A	chr4:57295823-57296023	K562	blood:	n/a	n/a
4	ATF2	chr4:57276366-57276850	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:57278823-57278963	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:57282739-57282938	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:57291327-57291426	K562	blood:	n/a	n/a
8	BATF	chr4:57278808-57279001	GM12878	blood:	n/a	chr4:57278916-57278927
9	BRCA1	chr4:57291567-57291905	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr4:57276544-57276748	A549	lung:	n/a	n/a
11	CEBPB	chr4:57277435-57277490	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:57276321-57276959	HCT-116	colon:	n/a	n/a
13	CEBPB	chr4:57276500-57276827	IMR90	lung:	n/a	n/a
14	CEBPB	chr4:57272354-57272660	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:57272388-57272697	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:57272387-57272708	K562	blood:	n/a	n/a
17	CHD1	chr4:57277373-57277374	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr4:57276634-57277088	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr4:57291767-57291942	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:57291240-57291390	GM12801	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
21	CTCF	chr4:57291240-57291390	GM12872	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
22	CTCF	chr4:57291200-57291350	AG09319	gingival:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
23	CTCF	chr4:57291740-57291890	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr4:57291740-57291890	AG10803	skin:	n/a	n/a
25	CTCF	chr4:57291220-57291370	SK-N-SH_RA	brain:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
26	CTCF	chr4:57291860-57292010	GM12868	blood:	n/a	n/a
27	CTCF	chr4:57291140-57291290	HepG2	liver:	n/a	chr4:57291281-57291290
28	CTCF	chr4:57291220-57291370	GM12873	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
29	CTCF	chr4:57291220-57291370	GM12865	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
30	CTCF	chr4:57291240-57291390	GM12868	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
31	CTCF	chr4:57291200-57291350	AoAF	blood vessel:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
32	CTCF	chr4:57291240-57291390	SK-N-SH_RA	brain:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
33	CTCF	chr4:57291136-57291370	A549	lung:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
34	CTCF	chr4:57290938-57291414	Spleen_OC	spleen:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
35	CTCF	chr4:57291200-57291350	NHDF-neo	bronchial:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
36	CTCF	chr4:57290828-57291632	A549	lung:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
37	CTCF	chr4:57290922-57291041	K562	blood:	n/a	n/a
38	CTCF	chr4:57291240-57291390	HEEpiC	esophagus:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
39	CTCF	chr4:57291220-57291370	NHEK	skin:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
40	CTCF	chr4:57291200-57291350	HPAF	blood vessel:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
41	CTCF	chr4:57291300-57291450	HAc	cerebellar:	n/a	n/a
42	CTCF	chr4:57291058-57291487	GM12878	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
43	CTCF	chr4:57291140-57291290	GM12874	blood:	n/a	chr4:57291281-57291290
44	CTCF	chr4:57291240-57291390	GM12869	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
45	CTCF	chr4:57291010-57291107	Lung_OC	lung:	n/a	n/a
46	CTCF	chr4:57291880-57292030	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr4:57291195-57291384	GM10248	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
48	CTCF	chr4:57291200-57291350	AG04450	lung:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
49	CTCF	chr4:57290868-57291476	K562	blood:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296
50	CTCF	chr4:57291001-57291477	IMR90	lung:	n/a	chr4:57291279-57291295 chr4:57291280-57291301 chr4:57291281-57291290 chr4:57291278-57291296

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:57276595-57276645	HAEpiC	amniotic membrane:	n/a
2	chr4:57276595-57276645	HEK293	kidney:	embryo
3	chr4:57276595-57276645	HCF	heart:	n/a
4	chr4:57276595-57276645	HNPCEpiC	eye:	n/a
5	chr4:57276595-57276645	RPTEC	kidney:	n/a
6	chr4:57276595-57276645	SK-N-MC	brain:	n/a
7	chr4:57276595-57276645	HRCEpiC	kidney:	n/a
8	chr4:57276595-57276645	HL-60	blood:	n/a
9	chr4:57276595-57276645	HCT-116	colon:	n/a
10	chr4:57276595-57276645	IMR90	lung:	fetal
11	chr4:57276595-57276645	HepG2	liver:	n/a
12	chr4:57276595-57276645	PFSK-1	brain:	n/a
13	chr4:57276595-57276645	AoSMC	blood vessel:	n/a
14	chr4:57276595-57276645	GM12891	blood:	n/a
15	chr4:57276595-57276645	GM12878	blood:	n/a
16	chr4:57276595-57276645	NHBE	bronchial:	n/a
17	chr4:57276595-57276645	BE2_C	brain:	n/a
18	chr4:57276595-57276645	U87	brain:	n/a
19	chr4:57276595-57276645	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:57276595-57276645	HCM	heart:	n/a
21	chr4:57276595-57276645	GM19239	blood:	n/a
22	chr4:57276595-57276645	NH-A	brain:	n/a
23	chr4:57276595-57276645	AG09309	skin:	n/a
24	chr4:57276595-57276645	SAEC	small airway:	n/a
25	chr4:57276595-57276645	Hela-S3	cervix:	n/a
26	chr4:57276595-57276645	PrEC	prostate:	n/a
27	chr4:57276595-57276645	CMK	blood:	n/a
28	chr4:57276595-57276645	PANC-1	pancreas:	n/a
29	chr4:57276595-57276645	HMEC	breast:	n/a
30	chr4:57276595-57276645	AG10803	skin:	n/a
31	chr4:57276595-57276645	NT2-D1	testis:	n/a
32	chr4:57276595-57276645	HUVEC	blood vessel:	n/a
33	chr4:57276595-57276645	SKMC	muscle:	n/a
34	chr4:57276595-57276645	MCF10A-Er-Src	breast:	n/a
35	chr4:57276595-57276645	Hepatocyte	liver:	n/a
36	chr4:57276595-57276645	ProgFib	skin:	n/a
37	chr4:57276595-57276645	AG04449	skin:	fetal
38	chr4:57276595-57276645	BJ	skin:	n/a
39	chr4:57276595-57276645	K562	blood:	n/a
40	chr4:57276595-57276645	MCF-7	breast:	n/a
41	chr4:57276595-57276645	NB4	blood:	n/a
42	chr4:57276595-57276645	HIPEpiC	eye:	n/a
43	chr4:57276595-57276645	HCPEpiC	choroid plexus:	n/a
44	chr4:57276595-57276645	HEEpiC	esophagus:	n/a
45	chr4:57276595-57276645	T-47D	breast:	n/a
46	chr4:57276595-57276645	AG09319	gingival:	n/a
47	chr4:57276595-57276645	SK-N-SH	brain:	n/a
48	chr4:57276595-57276645	HRPEpiC	eye:	n/a
49	chr4:57276595-57276645	GM12892	blood:	n/a
50	chr4:57276595-57276645	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57265142..57270324-chr4:57301712..57304176,5	K562	blood:
2	chr4:57279724..57281835-chr4:57300459..57302841,3	MCF-7	breast:
3	chr4:57288977..57293143-chr4:57294508..57297491,5	K562	blood:
4	chr4:57289174..57291602-chr4:57330934..57333698,2	MCF-7	breast:
5	chr4:57281906..57283505-chr4:57289215..57291492,2	MCF-7	breast:
6	chr4:57280759..57282291-chr4:57285849..57287914,2	K562	blood:
7	chr4:57275711..57277429-chr4:57298915..57301727,2	K562	blood:
8	chr4:57281906..57283505-chr4:57289215..57291492,2	MCF-7	breast:
9	chr4:57252113..57256281-chr4:57265528..57268374,5	MCF-7	breast:
10	chr4:57284634..57287528-chr4:57288727..57291692,2	MCF-7	breast:
11	chr4:57261443..57262969-chr4:57269868..57272239,2	K562	blood:
12	chr4:57283427..57285263-chr4:57295850..57297831,2	MCF-7	breast:
13	chr4:57286264..57289033-chr4:57295104..57297672,3	K562	blood:
14	chr4:57273341..57277197-chr4:57279767..57282535,3	K562	blood:
15	chr4:57280759..57282291-chr4:57285849..57287914,2	K562	blood:
16	chr4:57283427..57285263-chr4:57295850..57297831,2	MCF-7	breast:
17	chr4:57275389..57276982-chr4:57289029..57291685,2	K562	blood:
18	chr4:57284634..57287528-chr4:57288727..57291692,2	MCF-7	breast:
19	chr4:57290999..57291716-chr4:57410618..57411327,2	MCF-7	breast:
20	chr4:57291412..57293636-chr4:57775068..57776675,2	K562	blood:
21	chr4:57252859..57254448-chr4:57291231..57293008,2	K562	blood:
22	chr4:57275029..57278238-chr4:57292178..57294755,3	K562	blood:
23	chr4:57252303..57254207-chr4:57266105..57268233,2	MCF-7	breast:
24	chr4:57283337..57287999-chr4:57297926..57302779,6	K562	blood:
25	chr4:57256866..57258507-chr4:57276793..57279015,2	K562	blood:
26	chr4:57269980..57272538-chr4:57276339..57278488,2	K562	blood:
27	chr4:57274062..57276711-chr4:57286189..57288421,2	MCF-7	breast:
28	chr4:57288977..57293143-chr4:57294508..57297491,5	K562	blood:
29	chr4:57283306..57285849-chr4:57301856..57304089,2	MCF-7	breast:
30	chr4:57273545..57276214-chr4:57286488..57288454,2	K562	blood:
31	chr4:57274956..57277925-chr4:57332751..57335099,2	MCF-7	breast:
32	chr4:57283528..57287242-chr4:57332184..57336450,3	MCF-7	breast:
33	chr4:57256994..57259922-chr4:57269239..57271312,2	K562	blood:
34	chr4:57278722..57280888-chr4:57296778..57299271,2	MCF-7	breast:
35	chr4:57280047..57284869-chr4:57288459..57291870,6	K562	blood:
36	chr4:57275634..57278056-chr4:57281123..57283449,2	MCF-7	breast:
37	chr4:57286731..57288615-chr4:57289103..57290610,2	K562	blood:
38	chr4:57268824..57271246-chr4:57301014..57303212,2	K562	blood:
39	chr4:57290938..57296949-chr4:57297532..57303755,13	MCF-7	breast:
40	chr4:57277811..57280010-chr4:57300306..57302094,2	MCF-7	breast:
41	chr4:57286264..57289033-chr4:57295104..57297672,3	K562	blood:
42	chr4:57293139..57296270-chr4:57329337..57333814,4	K562	blood:
43	chr4:57252177..57255146-chr4:57278604..57280682,2	MCF-7	breast:
44	chr4:57275040..57277242-chr4:57300118..57301937,2	MCF-7	breast:
45	chr4:57290816..57291731-chr4:57301092..57301926,2	K562	blood:
46	chr4:57268050..57270580-chr4:57305183..57307241,2	K562	blood:
47	chr4:57265970..57269312-chr4:57270989..57273638,4	MCF-7	breast:
48	chr4:57290807..57291405-chr4:57666039..57666911,2	MCF-7	breast:
49	chr4:57266768..57270858-chr4:57291904..57297499,5	K562	blood:
50	chr4:57290763..57291840-chr4:57410409..57411390,5	MCF-7	breast:

Variant related genes	Relation type
PAICS	TF binding region
PPAT	TF binding region
ENSG00000268171	TF binding region
PAICS	CpG island
PPAT	CpG island
ENSG00000268171	CpG island
ENSG00000268171	chromatin interactions
ENSG00000174780	chromatin interactions
ENSG00000270147	chromatin interactions
ENSG00000270109	chromatin interactions
ENSG00000269921	chromatin interactions
ENSG00000084093	chromatin interactions
ENSG00000128050	chromatin interactions
ENSG00000157426	chromatin interactions
ENSG00000128059	chromatin interactions

Extended variants
information (count: 1016 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs956275	chr4:57267406-57267407	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560840346	chr4:57267430-57267431	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370363236	chr4:57267449-57267450	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564997646	chr4:57267463-57267464	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs201692437	chr4:57267503-57267504	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs113135347	chr4:57267552-57267553	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs546107546	chr4:57267754-57267755	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs546834349	chr4:57267772-57267773	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs557869247	chr4:57267839-57267840	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs560130983	chr4:57267882-57267883	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs116015206	chr4:57267884-57267885	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs551615488	chr4:57267885-57267886	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs571422847	chr4:57267972-57267973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs537118871	chr4:57268003-57268004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs79995074	chr4:57268058-57268059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs115598509	chr4:57268109-57268110	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536587237	chr4:57268143-57268144	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs3830557	chr4:57268182-57268183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201559760	chr4:57268190-57268191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs372667556	chr4:57268191-57268192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs553624850	chr4:57268209-57268210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs573387906	chr4:57268218-57268219	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs2271924	chr4:57268328-57268329	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs558853131	chr4:57268338-57268339	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs575435588	chr4:57268343-57268344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs185816951	chr4:57268375-57268376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs137938479	chr4:57268383-57268384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs199935160	chr4:57268389-57268390	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560877125	chr4:57268397-57268398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142311414	chr4:57268434-57268435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs367595117	chr4:57268453-57268454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375545139	chr4:57268485-57268486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564370082	chr4:57268488-57268489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs561670564	chr4:57268507-57268508	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529134795	chr4:57268518-57268519	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79253357	chr4:57268538-57268539	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368345914	chr4:57268602-57268603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs6812041	chr4:57268643-57268644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs375406353	chr4:57268671-57268672	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559416954	chr4:57268785-57268786	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545309701	chr4:57268802-57268803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192349372	chr4:57268819-57268820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546000003	chr4:57268855-57268856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199888850	chr4:57268914-57268915	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562293489	chr4:57268926-57268927	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs181495275	chr4:57268930-57268931	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs72259300	chr4:57269001-57269002	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs60051356	chr4:57269005-57269006	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556899549	chr4:57269007-57269008	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs4865096	chr4:57269015-57269016	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57254200-57273800	Weak transcription	Spleen	Spleen
2	chr4:57254400-57268400	Weak transcription	Lung	lung
3	chr4:57254400-57273600	Weak transcription	Pancreas	Pancrea
4	chr4:57254600-57271600	Weak transcription	Ovary	ovary
5	chr4:57254600-57276400	Weak transcription	Psoas Muscle	Psoas
6	chr4:57254600-57280200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:57254800-57271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:57254800-57273200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:57254800-57275200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:57254800-57275400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:57254800-57276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:57254800-57276400	Weak transcription	Right Ventricle	heart
13	chr4:57254800-57276600	Weak transcription	Left Ventricle	heart
14	chr4:57254800-57287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:57255000-57269200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:57255000-57271400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:57255200-57271600	Weak transcription	NHEK	skin
18	chr4:57255200-57272200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:57255200-57275600	Weak transcription	NHLF	lung
20	chr4:57255200-57276400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:57255200-57276600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:57255200-57276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:57255200-57276600	Weak transcription	Brain Substantia Nigra	brain
24	chr4:57255400-57272400	Weak transcription	Fetal Brain Male	brain
25	chr4:57255400-57276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:57255600-57272000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:57255600-57275600	Weak transcription	Fetal Brain Female	brain
28	chr4:57255800-57271600	Weak transcription	Hela-S3	cervix
29	chr4:57255800-57276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:57256000-57272200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:57256000-57274200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:57256000-57276400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:57256200-57276600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:57256400-57276600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:57256800-57269200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:57257600-57272600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:57257600-57274200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:57258400-57274200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:57258800-57271800	Weak transcription	Brain Angular Gyrus	brain
40	chr4:57259000-57274000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:57259400-57275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:57260200-57274200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:57260600-57273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:57260800-57274200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:57261000-57273200	Strong transcription	Dnd41	blood
46	chr4:57261200-57271600	Weak transcription	Aorta	Aorta
47	chr4:57261200-57273000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:57261400-57267600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:57262000-57267600	Strong transcription	Fetal Thymus	thymus
50	chr4:57262000-57273400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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