Variant report

Variant	rs6710371
Chromosome Location	chr2:37794275-37794276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37791325..37795155-chr2:37795900..37799036,5	K562	blood:
2	chr2:37786608..37790547-chr2:37791244..37795872,7	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10168778	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10173816	0.87[EUR][1000 genomes]
rs10176881	0.86[EUR][1000 genomes]
rs10181174	0.97[EUR][1000 genomes]
rs11124590	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11124592	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11887848	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11888402	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11895388	0.93[EUR][1000 genomes]
rs12612951	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615363	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432740	0.81[EUR][1000 genomes]
rs34752978	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35422160	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35574342	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35617918	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670208	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4670730	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6708088	0.87[EUR][1000 genomes]
rs6712065	0.86[EUR][1000 genomes]
rs740992	0.87[EUR][1000 genomes]
rs7560890	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37783400-37795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37788400-37794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:37789200-37794400	Weak transcription	Psoas Muscle	Psoas
4	chr2:37789200-37795800	Weak transcription	Left Ventricle	heart
5	chr2:37789200-37796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:37789400-37795600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:37789400-37795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:37789600-37795800	Weak transcription	Fetal Brain Male	brain
9	chr2:37790400-37797000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:37790400-37797800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:37791200-37795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:37791200-37795800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:37791200-37796600	Weak transcription	Hela-S3	cervix
14	chr2:37791600-37797000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:37792400-37796400	Weak transcription	Pancreas	Pancrea
16	chr2:37792800-37794800	Enhancers	NH-A	brain
17	chr2:37792800-37799600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:37793200-37794800	Enhancers	Osteobl	bone
19	chr2:37793400-37794400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:37793400-37794400	Enhancers	Adipose Nuclei	Adipose
21	chr2:37793400-37794800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:37793400-37794800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37793400-37794800	Enhancers	HUVEC	blood vessel
24	chr2:37793400-37795000	Enhancers	NHLF	lung
25	chr2:37793600-37794600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:37793600-37794800	Enhancers	HSMM	muscle
27	chr2:37793800-37794400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:37794000-37794400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:37794000-37794600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:37794000-37795000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:37794000-37797400	Weak transcription	HMEC	breast
32	chr2:37794200-37794400	Weak transcription	K562	blood
33	chr2:37794200-37794800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:37794200-37795000	Enhancers	NHDF-Ad	bronchial
35	chr2:37794200-37796000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:37794200-37796800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:37794200-37797400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:37794200-37797600	Weak transcription	HSMMtube	muscle

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