Variant report

Variant	rs13011485
Chromosome Location	chr2:190162544-190162545
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10187060	0.86[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs10497703	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs10755004	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs10931400	0.82[EUR][1000 genomes]
rs10931404	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931414	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931415	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931416	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931418	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10931419	0.81[EUR][1000 genomes]
rs1112578	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1157910	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs11677066	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11681286	0.88[EUR][1000 genomes]
rs11688021	0.83[EUR][1000 genomes]
rs11691604	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs11695159	0.82[EUR][1000 genomes]
rs12104769	0.81[EUR][1000 genomes]
rs12105389	0.95[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs12611950	0.87[EUR][1000 genomes]
rs12612412	0.82[EUR][1000 genomes]
rs12613876	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs12615823	0.86[EUR][1000 genomes]
rs12616234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12618438	0.87[EUR][1000 genomes]
rs12621035	0.87[EUR][1000 genomes]
rs12621806	0.87[EUR][1000 genomes]
rs12621939	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12623723	0.82[EUR][1000 genomes]
rs12988143	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs12990235	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12991770	0.87[EUR][1000 genomes]
rs12993719	0.88[EUR][1000 genomes]
rs12995956	0.82[EUR][1000 genomes]
rs12997620	0.82[EUR][1000 genomes]
rs12999122	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12999996	0.88[EUR][1000 genomes]
rs13004187	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004722	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005652	0.86[EUR][1000 genomes]
rs13005821	0.86[EUR][1000 genomes]
rs13010531	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs13011374	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13012327	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13012649	0.81[EUR][1000 genomes]
rs13015283	0.90[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13016231	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13017413	0.87[EUR][1000 genomes]
rs13019076	0.86[EUR][1000 genomes]
rs13021508	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13022633	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13028967	0.87[EUR][1000 genomes]
rs13029705	0.82[EUR][1000 genomes]
rs13031211	0.95[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs13031549	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs13032853	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs13033421	0.81[EUR][1000 genomes]
rs13033841	0.81[EUR][1000 genomes]
rs1356162	0.88[EUR][1000 genomes]
rs1356164	0.95[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1356165	0.95[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1356167	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1356168	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1356977	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1399991	0.95[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs1399992	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1402368	0.82[EUR][1000 genomes]
rs1515874	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1515876	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1520855	0.82[EUR][1000 genomes]
rs1520857	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs1520859	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1520863	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1520864	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1568334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1581351	0.80[EUR][1000 genomes]
rs1878085	0.90[EUR][1000 genomes]
rs1949484	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1949604	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1949605	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965422	0.91[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs2138374	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2222256	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2351627	0.82[EUR][1000 genomes]
rs2351636	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475196	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3914778	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4233801	0.86[EUR][1000 genomes]
rs4287797	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4353589	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4428040	0.81[EUR][1000 genomes]
rs4666774	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667264	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs4667265	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4667272	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667274	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667276	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667281	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs4667284	0.80[JPT][hapmap]
rs4998559	0.95[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs60124911	0.90[EUR][1000 genomes]
rs6434339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708419	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs6714088	0.86[EUR][1000 genomes]
rs6719104	0.86[EUR][1000 genomes]
rs6728055	0.83[EUR][1000 genomes]
rs6737071	0.82[EUR][1000 genomes]
rs6745108	0.82[EUR][1000 genomes]
rs7419276	0.86[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7419888	0.95[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7561002	0.95[CEU][hapmap]
rs7564611	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7576165	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7587147	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7587956	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7588453	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7593821	0.80[EUR][1000 genomes]
rs7596592	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7607133	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7609495	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs963738	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs9679659	0.83[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190153600-190162800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190153800-190162800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190158600-190162600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:190158600-190162800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:190159000-190162600	Weak transcription	NHDF-Ad	bronchial
6	chr2:190159000-190162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:190159600-190162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:190159800-190162800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:190159800-190170800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:190160000-190165800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:190160000-190170400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:190160000-190171000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:190160200-190171200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:190160400-190162800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:190160400-190165200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:190160400-190165200	Enhancers	Dnd41	blood
17	chr2:190161000-190165400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:190161400-190163600	Enhancers	NH-A	brain
19	chr2:190161600-190163600	Enhancers	HSMM	muscle
20	chr2:190161600-190163800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:190161800-190162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:190161800-190162800	Weak transcription	Fetal Thymus	thymus
23	chr2:190162000-190163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:190162200-190162800	Enhancers	Osteobl	bone
25	chr2:190162200-190163600	Enhancers	NHEK	skin
26	chr2:190162400-190162600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:190162400-190162600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr2:190162400-190163600	Enhancers	HMEC	breast
29	chr2:190162400-190163600	Enhancers	HSMMtube	muscle
30	chr2:190162400-190164200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:190162400-190166000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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