Variant report

Variant	rs1442132
Chromosome Location	chr4:90819674-90819675
allele	C/T
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	POLR2A	chr4:90819475-90819886	HUVEC	blood vessel:	n/a	n/a
2	EP300	chr4:90819584-90819928	GM12878	blood:	n/a	chr4:90819781-90819788
3	GATA1	chr4:90819108-90820719	PBDE	blood:	n/a	n/a
4	EBF1	chr4:90819599-90819891	GM12878	blood:	n/a	n/a
5	RUNX3	chr4:90819601-90819897	GM12878	blood:	n/a	n/a
6	NFYB	chr4:90819525-90819828	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:90819165-90819891	HUVEC	blood vessel:	n/a	n/a
8	USF2	chr4:90819579-90819920	GM12878	blood:	n/a	n/a
9	GATA2	chr4:90819403-90820818	HUVEC	blood vessel:	n/a	chr4:90820520-90820534
10	ZNF143	chr4:90819626-90819921	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:90818988-90820082	HUVEC	blood vessel:	n/a	n/a
12	BHLHE40	chr4:90819476-90820002	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:90818661-90820935	HUVEC	blood vessel:	n/a	n/a
14	CHD2	chr4:90819514-90819846	GM12878	blood:	n/a	n/a
15	EBF1	chr4:90819524-90819988	GM12878	blood:	n/a	n/a
16	MAX	chr4:90819604-90819922	GM12878	blood:	n/a	n/a
17	RCOR1	chr4:90819405-90819889	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:90818988-90820108	HUVEC	blood vessel:	n/a	n/a
19	RUNX3	chr4:90819575-90819933	GM12878	blood:	n/a	n/a
20	MXI1	chr4:90819582-90819908	GM12878	blood:	n/a	n/a
21	MAZ	chr4:90819573-90819964	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90817680..90820518-chr4:90823255..90825762,2	K562	blood:

Variant related genes	Relation type
MMRN1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10433954	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10433955	0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs10516847	1.00[CEU][hapmap]
rs10516850	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516851	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516852	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516853	0.83[JPT][hapmap]
rs11722543	0.99[ASN][1000 genomes]
rs12233696	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12640573	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs12640925	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12640973	0.83[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12641781	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs12643790	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12643823	0.87[ASN][1000 genomes]
rs12644375	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12646270	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1372511	1.00[ASN][1000 genomes]
rs1372512	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442131	0.90[ASN][1000 genomes]
rs17016274	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17016373	0.81[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs17016396	0.83[JPT][hapmap]
rs2241884	0.87[ASN][1000 genomes]
rs3729594	1.00[CEU][hapmap]
rs3775435	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs3775438	1.00[CEU][hapmap]
rs3775442	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs3775444	1.00[CEU][hapmap]
rs3775450	1.00[CEU][hapmap]
rs3775464	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775465	0.81[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775466	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775467	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775473	0.86[ASN][1000 genomes]
rs3775474	0.87[ASN][1000 genomes]
rs3775476	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775477	0.80[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775478	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3822088	1.00[CEU][hapmap]
rs3822091	1.00[CEU][hapmap]
rs3898322	1.00[CEU][hapmap]
rs56146644	0.89[ASN][1000 genomes]
rs57925841	1.00[ASN][1000 genomes]
rs58165695	0.84[EUR][1000 genomes]
rs58514521	0.89[ASN][1000 genomes]
rs58930449	0.83[ASN][1000 genomes]
rs59559279	0.98[ASN][1000 genomes]
rs60341854	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60847430	0.89[ASN][1000 genomes]
rs61160271	0.87[ASN][1000 genomes]
rs61611959	0.82[ASN][1000 genomes]
rs6532197	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6532199	1.00[ASN][1000 genomes]
rs6532200	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6828095	1.00[ASN][1000 genomes]
rs6838943	0.90[ASN][1000 genomes]
rs6847403	1.00[ASN][1000 genomes]
rs6848022	1.00[ASN][1000 genomes]
rs6857668	0.84[ASN][1000 genomes]
rs6858182	0.86[ASN][1000 genomes]
rs72657800	0.90[ASN][1000 genomes]
rs72657801	0.89[ASN][1000 genomes]
rs72657802	0.89[ASN][1000 genomes]
rs72659403	0.89[ASN][1000 genomes]
rs72659404	0.89[ASN][1000 genomes]
rs72659409	0.87[ASN][1000 genomes]
rs72659413	0.83[ASN][1000 genomes]
rs73831836	1.00[ASN][1000 genomes]
rs73831856	0.84[ASN][1000 genomes]
rs7657014	0.94[ASN][1000 genomes]
rs7666981	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7673735	1.00[ASN][1000 genomes]
rs961386	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90815800-90820600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:90816400-90822200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:90817400-90820000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:90817400-90823200	Enhancers	Dnd41	blood
5	chr4:90817800-90822200	Enhancers	Primary T cells from cord blood	blood
6	chr4:90818800-90822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:90818800-90823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:90819000-90820600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr4:90819200-90819800	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:90819200-90820000	Enhancers	Fetal Intestine Large	intestine
11	chr4:90819200-90820000	Enhancers	Fetal Intestine Small	intestine
12	chr4:90819200-90820200	Enhancers	Stomach Mucosa	stomach
13	chr4:90819200-90820400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:90819200-90820600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:90819200-90820800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr4:90819400-90820000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:90819400-90820400	Enhancers	Primary B cells from cord blood	blood
18	chr4:90819400-90820800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:90819400-90820800	Enhancers	GM12878-XiMat	blood
20	chr4:90819400-90821000	Flanking Active TSS	HUVEC	blood vessel
21	chr4:90819400-90821200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:90819600-90819800	Enhancers	Spleen	Spleen
23	chr4:90819600-90820000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:90819600-90820000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr4:90819600-90820000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:90819600-90820000	Enhancers	Fetal Thymus	thymus
27	chr4:90819600-90820000	Enhancers	Small Intestine	intestine
28	chr4:90819600-90820400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:90819600-90820600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:90819600-90821200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links