Variant report

Variant	rs13000199
Chromosome Location	chr2:180456240-180456241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10048645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10169561	1.00[JPT][hapmap]
rs10189196	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10189808	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674582	1.00[CEU][hapmap]
rs11683272	1.00[CEU][hapmap]
rs11683510	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11687634	0.86[JPT][hapmap]
rs11688895	1.00[CEU][hapmap]
rs11692794	1.00[JPT][hapmap]
rs11695089	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12612821	0.80[ASN][1000 genomes]
rs12615265	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12615343	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12693195	1.00[CEU][hapmap]
rs12693196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693197	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12986652	1.00[CEU][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs12987486	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12991282	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12991713	1.00[CEU][hapmap]
rs13001067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012946	1.00[JPT][hapmap]
rs13014868	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13026689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028216	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs13029050	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs13035781	0.86[JPT][hapmap]
rs13411084	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13411180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1356069	0.86[JPT][hapmap]
rs1515304	1.00[CEU][hapmap]
rs1515313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515314	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515315	0.86[JPT][hapmap]
rs1515317	0.86[JPT][hapmap]
rs1533385	0.81[JPT][hapmap]
rs1533387	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1554101	0.85[JPT][hapmap]
rs1606813	0.89[EUR][1000 genomes]
rs1606816	0.86[JPT][hapmap];0.81[YRI][hapmap]
rs16866810	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16866814	0.84[ASN][1000 genomes]
rs16866815	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs16866819	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs16866822	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs16866823	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16866832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866834	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16866842	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16866850	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16866857	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17818050	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1877943	0.86[JPT][hapmap]
rs2138195	0.86[JPT][hapmap]
rs2176061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2222031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2887110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3106712	0.86[JPT][hapmap]
rs3106713	0.95[JPT][hapmap]
rs3106714	0.95[JPT][hapmap]
rs34313722	0.83[EUR][1000 genomes]
rs34528783	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34545498	0.83[EUR][1000 genomes]
rs34663462	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35439427	0.89[EUR][1000 genomes]
rs35664499	0.89[EUR][1000 genomes]
rs36017881	0.80[ASN][1000 genomes]
rs36060902	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4511690	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4530328	1.00[CEU][hapmap]
rs4894115	0.85[JPT][hapmap]
rs61432525	0.90[ASN][1000 genomes]
rs6717795	0.86[JPT][hapmap]
rs6721295	1.00[CEU][hapmap]
rs6728581	0.83[ASN][1000 genomes]
rs71425640	0.87[EUR][1000 genomes]
rs73973307	0.89[EUR][1000 genomes]
rs7425514	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.98[ASN][1000 genomes]
rs7558351	0.86[JPT][hapmap]
rs7581924	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7593595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601398	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs872158	0.85[JPT][hapmap]
rs872159	0.86[JPT][hapmap]
rs872160	0.86[JPT][hapmap]
rs908287	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs9288040	1.00[CEU][hapmap]
rs951425	0.85[JPT][hapmap]
rs951427	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs969231	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979901	0.95[JPT][hapmap]
rs988289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs988290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv875471	chr2:180448523-180469778	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180449800-180456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:180450000-180456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:180453600-180456400	Weak transcription	Psoas Muscle	Psoas
5	chr2:180455000-180456400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180455400-180456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:180455400-180457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180456000-180456400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:180456200-180456600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:180456200-180456600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:180456200-180456800	Enhancers	HSMM	muscle
12	chr2:180456200-180457000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:180456200-180457600	Enhancers	Osteobl	bone
14	chr2:180456200-180458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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