Variant report

Variant	rs6542968
Chromosome Location	chr2:101201214-101201215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101199489..101202291-chr2:101618727..101620341,2	K562	blood:
2	chr2:100937517..100939359-chr2:101200058..101201700,2	MCF-7	breast:
3	chr2:101196386..101198737-chr2:101200074..101202571,2	K562	blood:

Variant related genes	Relation type
ENSG00000071082	Chromatin interaction
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1052117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1114285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11678350	0.82[ASN][1000 genomes]
rs12616005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1401753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1533655	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1589246	1.00[JPT][hapmap]
rs17024338	1.00[JPT][hapmap]
rs2139402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946584	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946587	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970994	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970997	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2971007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851340	0.82[ASN][1000 genomes]
rs6542969	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747613	1.00[JPT][hapmap]
rs6753993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72827222	0.91[ASN][1000 genomes]
rs7575538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7595492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9646943	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101183800-101204200	Weak transcription	Hela-S3	cervix
2	chr2:101188600-101204200	Weak transcription	K562	blood
3	chr2:101194800-101206200	Weak transcription	Pancreas	Pancrea
4	chr2:101198200-101201600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:101198200-101204600	Weak transcription	HUVEC	blood vessel
6	chr2:101198200-101204800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:101198400-101204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:101199200-101204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:101199400-101201400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:101199400-101201600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:101200200-101202000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:101200800-101201800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:101200800-101202200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:101201000-101201600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:101201000-101201600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:101201000-101202000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:101201200-101201600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:101201200-101201800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:101201200-101201800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:101201200-101202000	Enhancers	Primary T cells from cord blood	blood
21	chr2:101201200-101202000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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