Variant report

Variant	rs7316734
Chromosome Location	chr12:123117425-123117426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10734924	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10744275	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744287	0.95[ASN][1000 genomes]
rs10773302	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773394	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10847179	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10847242	0.93[ASN][1000 genomes]
rs1392236	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2062506	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2173628	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342082	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3803005	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4319547	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61954972	0.82[EUR][1000 genomes]
rs61954973	0.82[EUR][1000 genomes]
rs6489071	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489156	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489157	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489158	0.96[ASN][1000 genomes]
rs6489159	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7295105	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295397	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307233	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307735	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309390	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7316149	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7397990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954006	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955203	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959238	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966094	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972728	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9705654	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
2	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
4	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
10	chr12:123096400-123119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:123096400-123120200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:123097800-123122200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:123099200-123122200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:123099400-123120200	Weak transcription	Fetal Brain Male	brain
15	chr12:123101600-123131000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:123105600-123121200	Weak transcription	Left Ventricle	heart
17	chr12:123105800-123122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:123105800-123122400	Weak transcription	NH-A	brain
19	chr12:123105800-123124600	Weak transcription	Fetal Brain Female	brain
20	chr12:123106000-123119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:123106200-123121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:123106800-123120600	Weak transcription	Brain Germinal Matrix	brain
23	chr12:123107000-123122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:123107800-123122200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:123108000-123119800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:123108000-123131400	Weak transcription	NHLF	lung
27	chr12:123108200-123121200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:123108200-123124200	Weak transcription	HMEC	breast
29	chr12:123108400-123128600	Weak transcription	Placenta	Placenta
30	chr12:123108800-123118200	Weak transcription	K562	blood
31	chr12:123108800-123122200	Weak transcription	Primary B cells from cord blood	blood
32	chr12:123109400-123118000	Weak transcription	HUVEC	blood vessel
33	chr12:123109400-123120000	Weak transcription	Fetal Lung	lung
34	chr12:123109400-123128000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:123109600-123118800	Weak transcription	NHEK	skin
36	chr12:123110600-123128000	Weak transcription	NHDF-Ad	bronchial
37	chr12:123111600-123122000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:123111600-123136200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:123111800-123117600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:123111800-123118600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:123111800-123120600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:123111800-123121800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:123111800-123122200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:123111800-123127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:123112000-123122200	Weak transcription	Fetal Intestine Large	intestine
46	chr12:123112000-123123400	Weak transcription	Hela-S3	cervix
47	chr12:123112000-123126400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:123112000-123128400	Weak transcription	Primary T cells from cord blood	blood
49	chr12:123112200-123118000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:123112200-123118600	Weak transcription	GM12878-XiMat	blood

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