Variant report

Variant	rs6532200
Chromosome Location	chr4:90820793-90820794
allele	A/G
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	chr4:90820159-90820933	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr4:90820289-90820856	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr4:90819403-90820818	HUVEC	blood vessel:	n/a	chr4:90820520-90820534
4	POLR2A	chr4:90818661-90820935	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90812273..90815059-chr4:90820417..90822697,2	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	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10433955	0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs10516847	1.00[CEU][hapmap]
rs10516850	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10516851	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10516852	0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10516853	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11722543	0.91[ASN][1000 genomes]
rs12233696	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12640573	0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs12640925	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12640973	0.87[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12641781	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12643790	0.84[EUR][1000 genomes]
rs12643823	0.91[ASN][1000 genomes]
rs12644375	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12646270	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs1372511	0.92[ASN][1000 genomes]
rs1372512	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1442131	0.96[ASN][1000 genomes]
rs1442132	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]
rs17016274	0.94[JPT][hapmap]
rs17016373	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs17016396	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs2241884	0.91[ASN][1000 genomes]
rs3729594	1.00[CEU][hapmap]
rs3775435	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3775438	1.00[CEU][hapmap]
rs3775442	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3775444	1.00[CEU][hapmap]
rs3775450	1.00[CEU][hapmap]
rs3775464	0.93[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs3775465	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3775466	0.94[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs3775467	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs3775473	0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs3775474	0.93[ASN][1000 genomes]
rs3775476	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3775477	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3775478	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3822088	1.00[CEU][hapmap]
rs3822091	1.00[CEU][hapmap]
rs3898322	1.00[CEU][hapmap]
rs56146644	0.95[ASN][1000 genomes]
rs57925841	0.92[ASN][1000 genomes]
rs58165695	0.84[EUR][1000 genomes]
rs58514521	0.95[ASN][1000 genomes]
rs58930449	0.87[ASN][1000 genomes]
rs59559279	0.90[ASN][1000 genomes]
rs60341854	0.84[EUR][1000 genomes]
rs60847430	0.95[ASN][1000 genomes]
rs61160271	0.91[ASN][1000 genomes]
rs61611959	0.86[ASN][1000 genomes]
rs6532197	0.88[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6532199	0.92[ASN][1000 genomes]
rs6828095	0.92[ASN][1000 genomes]
rs6838943	0.96[ASN][1000 genomes]
rs6847403	0.92[ASN][1000 genomes]
rs6848022	0.92[ASN][1000 genomes]
rs6857668	0.90[ASN][1000 genomes]
rs6858182	0.93[ASN][1000 genomes]
rs72657800	0.96[ASN][1000 genomes]
rs72657801	0.95[ASN][1000 genomes]
rs72657802	0.95[ASN][1000 genomes]
rs72659403	0.95[ASN][1000 genomes]
rs72659404	0.95[ASN][1000 genomes]
rs72659409	0.93[ASN][1000 genomes]
rs72659413	0.87[ASN][1000 genomes]
rs73831836	0.92[ASN][1000 genomes]
rs73831856	0.90[ASN][1000 genomes]
rs7657014	0.86[ASN][1000 genomes]
rs7666981	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7673735	0.92[ASN][1000 genomes]
rs961386	1.00[CEU][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90816400-90822200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:90817400-90823200	Enhancers	Dnd41	blood
3	chr4:90817800-90822200	Enhancers	Primary T cells from cord blood	blood
4	chr4:90818800-90822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:90818800-90823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:90819200-90820800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:90819400-90820800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:90819400-90820800	Enhancers	GM12878-XiMat	blood
9	chr4:90819400-90821000	Flanking Active TSS	HUVEC	blood vessel
10	chr4:90819400-90821200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:90819600-90821200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:90820000-90827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:90820400-90821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:90820600-90821200	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:90820600-90821200	Enhancers	Pancreatic Islets	Pancreatic Islet

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