Variant report

Variant	rs902971
Chromosome Location	chr12:62647739-62647740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10431509	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431510	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431565	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[EUR][1000 genomes]
rs10747958	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[EUR][1000 genomes]
rs10877819	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10877824	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877829	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs10877831	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes]
rs11174397	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs11174398	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs11174399	0.84[ASN][1000 genomes]
rs11174401	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174404	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174408	1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174411	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174412	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174416	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174417	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174420	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174423	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174424	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174428	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174433	0.91[JPT][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174435	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174438	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs11174449	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11504121	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11561463	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11830242	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12228015	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231778	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12299072	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12306066	0.88[EUR][1000 genomes]
rs12307900	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310318	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310616	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1376342	0.88[EUR][1000 genomes]
rs1496859	0.88[EUR][1000 genomes]
rs1901239	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131434	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2132651	0.88[EUR][1000 genomes]
rs2242032	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6581444	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132814	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7133294	0.87[EUR][1000 genomes]
rs7137068	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7302033	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302617	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953967	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7965326	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976058	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7976608	0.81[CHB][hapmap];0.86[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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:62641800-62647800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:62643400-62651200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:62643600-62652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:62644800-62653000	Weak transcription	Left Ventricle	heart
6	chr12:62645000-62650200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:62645000-62653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:62645200-62652000	Weak transcription	Fetal Kidney	kidney
9	chr12:62645200-62653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:62645400-62650000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:62645400-62650200	Weak transcription	HMEC	breast
12	chr12:62645400-62650400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:62645400-62652600	Weak transcription	NHEK	skin
14	chr12:62645400-62652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:62645400-62652800	Weak transcription	Fetal Thymus	thymus
16	chr12:62645600-62650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:62645600-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:62645600-62650200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:62645600-62652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:62645800-62650200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:62645800-62650400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:62645800-62651400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:62645800-62652000	Weak transcription	Dnd41	blood
24	chr12:62646000-62649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:62646000-62650200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:62646000-62650200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:62646000-62650200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:62646000-62652600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:62646000-62652800	Weak transcription	Liver	Liver
30	chr12:62646200-62649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:62646200-62649600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:62646200-62650200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:62646200-62650200	Weak transcription	Primary T cells from cord blood	blood
34	chr12:62646200-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:62646200-62650200	Weak transcription	Ovary	ovary
36	chr12:62646200-62652600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:62646400-62649800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:62646400-62652200	Weak transcription	GM12878-XiMat	blood
39	chr12:62646600-62650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:62646800-62647800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:62647000-62653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:62647000-62653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:62647200-62647800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:62647600-62649400	Weak transcription	K562	blood
45	chr12:62647600-62649600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:62647600-62650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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