Variant report

Variant	rs7966094
Chromosome Location	chr12:123115771-123115772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10734924	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10744211	0.88[JPT][hapmap]
rs10744275	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744287	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10773208	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap]
rs10773302	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773394	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846921	1.00[JPT][hapmap]
rs10846978	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs10847179	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10847242	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10847415	0.81[CEU][hapmap]
rs10998	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs11058226	1.00[JPT][hapmap]
rs11058402	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs1392236	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473553	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs1973463	0.88[JPT][hapmap]
rs2062506	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2173628	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2342082	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3803005	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4319547	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758643	0.88[JPT][hapmap]
rs61954972	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954973	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6416298	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6489071	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489156	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489157	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489158	0.96[ASN][1000 genomes]
rs6489159	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7295105	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295397	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301515	0.89[TSI][hapmap]
rs7307233	0.84[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7307735	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309390	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7314638	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7316149	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316734	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397990	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954006	0.89[ASW][hapmap];0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7955203	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959238	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964138	0.81[ASW][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs7972728	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9705654	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9988963	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
2	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
3	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
5	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:123081000-123116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:123086400-123116400	Strong transcription	Fetal Thymus	thymus
12	chr12:123087000-123116200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
14	chr12:123096400-123119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:123096400-123120200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:123097800-123122200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:123099200-123122200	Weak transcription	Adipose Nuclei	Adipose
18	chr12:123099400-123116800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:123099400-123120200	Weak transcription	Fetal Brain Male	brain
20	chr12:123101600-123131000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:123105600-123121200	Weak transcription	Left Ventricle	heart
22	chr12:123105800-123122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:123105800-123122400	Weak transcription	NH-A	brain
24	chr12:123105800-123124600	Weak transcription	Fetal Brain Female	brain
25	chr12:123106000-123119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123106200-123121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:123106800-123120600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:123107000-123122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:123107800-123122200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:123108000-123116400	Weak transcription	Fetal Kidney	kidney
31	chr12:123108000-123119800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:123108000-123131400	Weak transcription	NHLF	lung
33	chr12:123108200-123121200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:123108200-123124200	Weak transcription	HMEC	breast
35	chr12:123108400-123128600	Weak transcription	Placenta	Placenta
36	chr12:123108800-123118200	Weak transcription	K562	blood
37	chr12:123108800-123122200	Weak transcription	Primary B cells from cord blood	blood
38	chr12:123109400-123118000	Weak transcription	HUVEC	blood vessel
39	chr12:123109400-123120000	Weak transcription	Fetal Lung	lung
40	chr12:123109400-123128000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:123109600-123118800	Weak transcription	NHEK	skin
42	chr12:123110600-123128000	Weak transcription	NHDF-Ad	bronchial
43	chr12:123111200-123116000	Strong transcription	Fetal Stomach	stomach
44	chr12:123111600-123122000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:123111600-123136200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:123111800-123116400	Weak transcription	Ovary	ovary
47	chr12:123111800-123117600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:123111800-123118600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:123111800-123120600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:123111800-123121800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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