Variant report

Variant	rs7310905
Chromosome Location	chr12:105404343-105404344
allele	A/G
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:3)

rs_ID	r²[population]
rs12818323	0.96[ASN][1000 genomes]
rs34337968	0.96[ASN][1000 genomes]
rs7313529	0.98[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:105385800-105408400	Weak transcription	Fetal Heart	heart
4	chr12:105387600-105412200	Weak transcription	HepG2	liver
5	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
6	chr12:105389400-105406800	Weak transcription	NH-A	brain
7	chr12:105389400-105411200	Weak transcription	Osteobl	bone
8	chr12:105391000-105407400	Weak transcription	NHDF-Ad	bronchial
9	chr12:105393200-105411400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:105393400-105421200	Weak transcription	NHLF	lung
12	chr12:105393600-105412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:105393800-105405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:105393800-105406200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:105393800-105406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:105393800-105406400	Weak transcription	Spleen	Spleen
17	chr12:105393800-105406600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:105393800-105407000	Weak transcription	Pancreas	Pancrea
19	chr12:105393800-105407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:105393800-105407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:105393800-105412000	Weak transcription	Lung	lung
22	chr12:105393800-105412200	Weak transcription	Placenta	Placenta
23	chr12:105393800-105412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:105393800-105414400	Weak transcription	Esophagus	oesophagus
25	chr12:105393800-105414600	Weak transcription	Colonic Mucosa	Colon
26	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:105394000-105406800	Weak transcription	Brain Angular Gyrus	brain
28	chr12:105394000-105414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:105394200-105406800	Weak transcription	Right Ventricle	heart
31	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:105394400-105406600	Weak transcription	Thymus	Thymus
34	chr12:105394400-105412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:105394600-105406000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:105394600-105406400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:105395200-105414400	Weak transcription	Fetal Kidney	kidney
39	chr12:105396000-105405400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:105397400-105405800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:105397400-105406200	Weak transcription	Fetal Thymus	thymus
42	chr12:105397400-105407000	Weak transcription	HUVEC	blood vessel
43	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
44	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:105397800-105406000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:105397800-105406400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:105397800-105408800	Weak transcription	K562	blood
48	chr12:105397800-105412400	Weak transcription	Psoas Muscle	Psoas
49	chr12:105398000-105405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:105398000-105406600	Weak transcription	Primary T cells fromperipheralblood	blood

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