Variant report

Variant	rs1486253
Chromosome Location	chr8:50732260-50732261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10086004	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089399	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090657	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092384	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038534	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504093	0.86[CHB][hapmap]
rs1074385	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957620	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957679	0.88[ASN][1000 genomes]
rs10957682	0.88[ASN][1000 genomes]
rs1157932	0.86[CHB][hapmap]
rs11777957	0.86[CHB][hapmap]
rs11781675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11782597	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783631	0.86[CHB][hapmap]
rs11785147	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786939	1.00[ASN][1000 genomes]
rs11787050	0.88[ASN][1000 genomes]
rs11989680	0.95[EUR][1000 genomes]
rs11991730	0.95[EUR][1000 genomes]
rs11992716	0.95[EUR][1000 genomes]
rs11992755	0.94[EUR][1000 genomes]
rs12541363	0.84[CHB][hapmap]
rs12542041	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542687	0.85[ASN][1000 genomes]
rs12545695	0.84[ASN][1000 genomes]
rs12547245	0.97[ASN][1000 genomes]
rs12550124	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12677051	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251355	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255117	1.00[ASN][1000 genomes]
rs13261298	1.00[ASN][1000 genomes]
rs13267366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352112	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352113	0.86[ASN][1000 genomes]
rs1352117	0.91[CEU][hapmap]
rs1385974	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385975	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385976	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1385980	0.85[ASN][1000 genomes]
rs1385982	1.00[ASN][1000 genomes]
rs1486241	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486242	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486243	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486251	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486252	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486254	1.00[ASN][1000 genomes]
rs1486263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1552371	0.86[ASN][1000 genomes]
rs1552372	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552373	1.00[ASN][1000 genomes]
rs1552375	0.98[ASN][1000 genomes]
rs1552377	0.97[ASN][1000 genomes]
rs1552378	0.84[ASN][1000 genomes]
rs1552379	0.84[ASN][1000 genomes]
rs1580468	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586364	0.88[ASN][1000 genomes]
rs1601569	1.00[ASN][1000 genomes]
rs16912794	1.00[ASN][1000 genomes]
rs16913087	1.00[ASN][1000 genomes]
rs16913172	0.96[ASN][1000 genomes]
rs16913461	1.00[ASN][1000 genomes]
rs16913472	1.00[ASN][1000 genomes]
rs16913475	1.00[ASN][1000 genomes]
rs16913687	0.88[ASN][1000 genomes]
rs16914039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs170331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17674246	0.96[EUR][1000 genomes]
rs17674389	0.95[EUR][1000 genomes]
rs1906013	0.94[EUR][1000 genomes]
rs1906014	0.84[ASN][1000 genomes]
rs1906015	0.94[ASN][1000 genomes]
rs1979535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1994344	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129162	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129164	1.00[ASN][1000 genomes]
rs2129165	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2200494	0.81[CEU][hapmap]
rs223081	0.84[CEU][hapmap]
rs2247368	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2385545	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385546	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385547	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385548	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2385696	0.86[CHB][hapmap]
rs2449957	0.84[CEU][hapmap]
rs2449960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2450286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2450287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2450290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2450291	0.89[CEU][hapmap]
rs28869911	0.82[ASN][1000 genomes]
rs318850	0.84[ASN][1000 genomes]
rs318854	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs318858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs318859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs318860	0.81[CEU][hapmap]
rs318861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs318872	0.84[CEU][hapmap]
rs318873	0.91[CEU][hapmap]
rs318874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs318875	0.84[CEU][hapmap]
rs318885	0.81[CEU][hapmap]
rs318890	0.81[CEU][hapmap]
rs35958802	0.94[EUR][1000 genomes]
rs365318	0.81[CEU][hapmap]
rs415276	0.84[CEU][hapmap]
rs4242455	0.81[ASN][1000 genomes]
rs4242456	0.86[CHB][hapmap]
rs4339657	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4383988	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389954	0.81[ASN][1000 genomes]
rs4457345	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4584153	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599827	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4873113	1.00[ASN][1000 genomes]
rs4873114	1.00[ASN][1000 genomes]
rs4873116	1.00[ASN][1000 genomes]
rs4873118	0.88[ASN][1000 genomes]
rs4873119	0.88[ASN][1000 genomes]
rs4873120	0.86[CHB][hapmap]
rs4873123	0.86[CHB][hapmap]
rs4873376	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873379	0.83[ASN][1000 genomes]
rs4873382	0.98[ASN][1000 genomes]
rs4873383	1.00[ASN][1000 genomes]
rs4873388	1.00[ASN][1000 genomes]
rs4873391	1.00[ASN][1000 genomes]
rs4873392	0.88[ASN][1000 genomes]
rs55636909	0.98[ASN][1000 genomes]
rs55879210	0.88[ASN][1000 genomes]
rs56076516	0.95[EUR][1000 genomes]
rs56659775	1.00[ASN][1000 genomes]
rs57165932	0.95[EUR][1000 genomes]
rs57462717	1.00[ASN][1000 genomes]
rs58764084	1.00[ASN][1000 genomes]
rs59379959	1.00[ASN][1000 genomes]
rs59848488	1.00[ASN][1000 genomes]
rs60213702	1.00[ASN][1000 genomes]
rs60311298	0.87[EUR][1000 genomes]
rs60631955	1.00[ASN][1000 genomes]
rs61662535	1.00[ASN][1000 genomes]
rs6472721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6472722	0.84[CEU][hapmap];0.96[EUR][1000 genomes]
rs6988440	0.85[ASN][1000 genomes]
rs6994224	1.00[ASN][1000 genomes]
rs7004973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7008449	0.84[ASN][1000 genomes]
rs7008924	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013903	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72636668	0.94[EUR][1000 genomes]
rs72636670	0.94[EUR][1000 genomes]
rs72636673	0.93[EUR][1000 genomes]
rs72636675	0.94[EUR][1000 genomes]
rs72636676	0.94[EUR][1000 genomes]
rs72636678	0.94[EUR][1000 genomes]
rs72636684	0.94[EUR][1000 genomes]
rs72636691	0.95[EUR][1000 genomes]
rs72636696	0.95[EUR][1000 genomes]
rs72636698	0.95[EUR][1000 genomes]
rs72636701	0.95[EUR][1000 genomes]
rs72636702	0.95[EUR][1000 genomes]
rs73582706	1.00[ASN][1000 genomes]
rs73582713	1.00[ASN][1000 genomes]
rs73582718	0.98[ASN][1000 genomes]
rs73582724	1.00[ASN][1000 genomes]
rs73582755	1.00[ASN][1000 genomes]
rs73582756	1.00[ASN][1000 genomes]
rs73676017	0.94[ASN][1000 genomes]
rs73676077	0.84[ASN][1000 genomes]
rs7388392	0.97[ASN][1000 genomes]
rs7463456	0.81[ASN][1000 genomes]
rs7825552	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826013	0.97[ASN][1000 genomes]
rs7828311	1.00[ASN][1000 genomes]
rs7828900	0.84[CHB][hapmap]
rs7831807	0.81[ASN][1000 genomes]
rs9298228	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298229	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964011	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs967116	0.81[CEU][hapmap]
rs974740	0.88[ASN][1000 genomes]
rs974742	0.88[ASN][1000 genomes]
rs986450	0.95[EUR][1000 genomes]
rs9886451	0.83[EUR][1000 genomes];1.00[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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50727200-50732600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:50729800-50734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:50729800-50735200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:50730000-50734200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:50730000-50735000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:50730000-50735200	Weak transcription	NH-A	brain
7	chr8:50730200-50735200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:50730800-50735200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:50731200-50734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:50731200-50735400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:50731400-50735200	Weak transcription	NHDF-Ad	bronchial
12	chr8:50732200-50732400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:50732200-50732400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:50732200-50732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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