Variant report

Variant	rs4913419
Chromosome Location	chr12:68594776-68594777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11571070	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831576	0.90[EUR][1000 genomes]
rs11835593	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2193035	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3181032	1.00[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs57680423	0.90[EUR][1000 genomes]
rs6581798	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847952	chr12:68544896-68693242	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv1792301	chr12:68586721-68594956	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68593600-68594800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:68593600-68597800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:68593600-68597800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:68593800-68595200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:68594000-68595000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:68594000-68595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:68594000-68595400	Enhancers	Primary T cells from cord blood	blood
8	chr12:68594000-68595400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:68594200-68594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:68594200-68595000	Enhancers	Fetal Thymus	thymus
11	chr12:68594200-68595200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:68594200-68595200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:68594200-68595200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:68594200-68595200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:68594200-68595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:68594200-68595200	Enhancers	HMEC	breast
17	chr12:68594200-68595600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:68594200-68595600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:68594400-68595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:68594400-68595400	Enhancers	Dnd41	blood
21	chr12:68594600-68595200	Enhancers	Thymus	Thymus
22	chr12:68594600-68595200	Bivalent Enhancer	NH-A	brain

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