Variant report

Variant	rs6705682
Chromosome Location	chr2:101198221-101198222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101178274..101179996-chr2:101198078..101200150,2	MCF-7	breast:
2	chr2:101196386..101198737-chr2:101200074..101202571,2	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11123838	0.90[ASN][1000 genomes]
rs12151415	0.82[AMR][1000 genomes]
rs13392981	0.86[ASN][1000 genomes]
rs2946595	0.82[AMR][1000 genomes]
rs2970993	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35658386	0.90[ASN][1000 genomes]
rs56407824	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57619803	0.93[ASN][1000 genomes]
rs59729787	0.81[AMR][1000 genomes]
rs60927663	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152478	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6728833	0.82[AMR][1000 genomes]
rs6728834	0.82[AMR][1000 genomes]
rs6731795	0.82[AMR][1000 genomes]
rs72966916	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7587860	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594990	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[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:32 , 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	chr2:101195000-101198600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:101195800-101199200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:101195800-101199400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:101195800-101199800	Weak transcription	Fetal Stomach	stomach
8	chr2:101196600-101199200	Enhancers	Fetal Thymus	thymus
9	chr2:101196600-101199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:101197400-101198400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:101198000-101198400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:101198000-101198600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:101198000-101198800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:101198000-101199200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:101198000-101199400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:101198000-101199400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:101198000-101199400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:101198000-101199400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:101198200-101198400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:101198200-101198400	Enhancers	Lung	lung
21	chr2:101198200-101198400	Enhancers	Dnd41	blood
22	chr2:101198200-101198600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:101198200-101198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:101198200-101198800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:101198200-101198800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:101198200-101199400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:101198200-101199400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:101198200-101201000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:101198200-101201200	Weak transcription	Primary T cells from cord blood	blood
30	chr2:101198200-101201600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:101198200-101204600	Weak transcription	HUVEC	blood vessel
32	chr2:101198200-101204800	Weak transcription	Primary monocytes fromperipheralblood	blood

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