Variant report

Variant	rs7597861
Chromosome Location	chr2:100853187-100853188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10865036	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12474386	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2309811	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4851273	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4851274	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542920	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6542921	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6737502	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6739695	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100849400-100856000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:100850000-100853400	Weak transcription	Fetal Heart	heart
3	chr2:100850800-100853800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:100851000-100853200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:100851000-100853200	Weak transcription	Fetal Lung	lung
6	chr2:100851000-100854600	Enhancers	Fetal Thymus	thymus
7	chr2:100851000-100855400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:100851200-100853400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:100851200-100853800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:100851200-100854800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:100851200-100855200	Enhancers	Thymus	Thymus
12	chr2:100851400-100853200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:100851400-100854000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:100851600-100854600	Enhancers	Primary T cells from cord blood	blood
15	chr2:100851600-100855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:100851800-100853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:100851800-100854000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:100851800-100854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:100851800-100855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:100851800-100859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:100852000-100853600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100852000-100853800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:100852000-100857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:100852000-100859000	Weak transcription	Lung	lung
25	chr2:100852200-100854000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:100852200-100855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:100852400-100853800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:100852400-100859000	Weak transcription	Spleen	Spleen
29	chr2:100852600-100853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:100852600-100855400	Enhancers	Primary B cells from cord blood	blood
31	chr2:100852800-100854600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:100853000-100854000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:100853000-100854200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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