Variant report

Variant	rs7297205
Chromosome Location	chr12:10820840-10820841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10743917	0.83[CEU][hapmap]
rs10743918	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10772348	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10845199	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7977694	0.97[EUR][1000 genomes];0.89[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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1050613	chr12:10809805-10844399	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10810600-10821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:10818600-10821600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10819000-10825400	Weak transcription	HMEC	breast
4	chr12:10819800-10821600	Enhancers	HUVEC	blood vessel
5	chr12:10820000-10821000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:10820000-10821200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:10820200-10821200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:10820200-10821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:10820200-10822000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:10820400-10821000	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:10820400-10821200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:10820400-10821600	Enhancers	Liver	Liver
13	chr12:10820400-10821600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr12:10820400-10821800	Enhancers	Stomach Mucosa	stomach
15	chr12:10820400-10822000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:10820400-10825200	Weak transcription	NHDF-Ad	bronchial
17	chr12:10820600-10821600	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:10820800-10821000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:10820800-10821200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:10820800-10821200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:10820800-10821200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
22	chr12:10820800-10821400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:10820800-10821600	Enhancers	NHEK	skin
24	chr12:10820800-10821800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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