Variant report

Variant	rs7561002
Chromosome Location	chr2:189982418-189982419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10931400	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931404	0.81[EUR][1000 genomes]
rs11681286	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11691604	0.84[CEU][hapmap]
rs12104769	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12105389	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12611950	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12615823	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12618316	0.81[AFR][1000 genomes]
rs12618438	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12621035	0.91[EUR][1000 genomes]
rs12621806	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12621939	0.85[EUR][1000 genomes]
rs12991770	0.91[EUR][1000 genomes]
rs12993719	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12995956	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999122	0.86[EUR][1000 genomes]
rs12999996	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13005652	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13005714	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs13005821	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13012327	0.81[EUR][1000 genomes]
rs13012649	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13015283	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs13016231	0.86[EUR][1000 genomes]
rs13017413	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13019076	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13020999	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs13022633	0.81[EUR][1000 genomes]
rs13028967	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13029705	0.94[EUR][1000 genomes]
rs13030984	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs13031211	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13031549	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs13033421	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356162	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1356163	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1356164	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1356165	1.00[CEU][hapmap];0.84[YRI][hapmap];0.91[EUR][1000 genomes]
rs1356167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1399991	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1399992	0.81[EUR][1000 genomes]
rs1464135	0.80[YRI][hapmap]
rs1515864	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs1515874	0.81[EUR][1000 genomes]
rs1515876	0.81[EUR][1000 genomes]
rs1878085	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1949327	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs1949484	0.86[EUR][1000 genomes]
rs1965422	0.96[CEU][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2138373	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs2138374	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2222256	0.86[EUR][1000 genomes]
rs2351627	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35475196	0.81[EUR][1000 genomes]
rs36019389	0.81[AFR][1000 genomes]
rs3914778	0.86[EUR][1000 genomes]
rs4233801	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4417749	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs4428040	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667272	0.86[EUR][1000 genomes]
rs4667274	0.82[EUR][1000 genomes]
rs4998559	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60124911	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62182416	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182417	0.81[AFR][1000 genomes]
rs6434324	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6434325	0.82[AFR][1000 genomes]
rs6434339	0.89[CEU][hapmap]
rs6708419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6714088	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6719104	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6737071	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6749559	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs7419888	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7560973	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs7564611	0.81[EUR][1000 genomes]
rs7576165	0.92[CEU][hapmap]
rs7587147	0.86[EUR][1000 genomes]
rs7587956	0.86[EUR][1000 genomes]
rs7606337	0.82[AFR][1000 genomes]
rs7607133	0.82[EUR][1000 genomes]
rs7609495	0.81[EUR][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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
2	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189975200-189988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:189975400-189988600	Weak transcription	HUVEC	blood vessel
6	chr2:189976000-189986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:189979200-189984000	Enhancers	Osteobl	bone
8	chr2:189979200-189984200	Enhancers	A549	lung
9	chr2:189979400-189983200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:189980200-189982600	Enhancers	Fetal Lung	lung
11	chr2:189980400-189982600	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:189981000-189982600	Enhancers	HSMM	muscle
13	chr2:189981000-189993400	Weak transcription	Ovary	ovary
14	chr2:189981200-189982600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:189981200-189982600	Enhancers	NHLF	lung
16	chr2:189981200-189983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:189981200-189983200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:189981200-189983400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:189981200-189983800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:189981200-189992800	Weak transcription	NH-A	brain
21	chr2:189981200-189998000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:189981400-189983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:189981400-189983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:189981400-189984000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:189981400-189984000	Enhancers	NHDF-Ad	bronchial
26	chr2:189981400-189986000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:189981400-189989800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189981400-189991800	Weak transcription	HSMMtube	muscle
29	chr2:189981400-189992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
31	chr2:189981800-189982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:189981800-189982600	Enhancers	Colon Smooth Muscle	Colon
33	chr2:189981800-189987400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:189982200-189983200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:189982200-189984400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:189982200-189985200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:189982400-189985000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:189982400-190005800	Weak transcription	Fetal Kidney	kidney

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