Variant report

Variant	rs7977694
Chromosome Location	chr12:10822695-10822696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10743918	0.87[EUR][1000 genomes]
rs10772348	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845199	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297205	0.97[EUR][1000 genomes];0.89[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	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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10819000-10825400	Weak transcription	HMEC	breast
2	chr12:10820400-10825200	Weak transcription	NHDF-Ad	bronchial
3	chr12:10821400-10824000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:10821400-10825000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:10821600-10822800	Flanking Active TSS	HUVEC	blood vessel
6	chr12:10821600-10824000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10821600-10824000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:10821600-10824200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:10821600-10824200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:10821600-10824400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:10821600-10824800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:10821600-10825000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:10821600-10825200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:10821600-10826000	Weak transcription	NHEK	skin
15	chr12:10821600-10826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:10821800-10824400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:10821800-10824400	Weak transcription	Stomach Mucosa	stomach
18	chr12:10821800-10825000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:10821800-10825200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:10821800-10825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:10821800-10825400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:10821800-10825400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:10822000-10824000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:10822000-10824000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:10822000-10824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:10822200-10824000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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