Variant report

Variant	rs344050
Chromosome Location	chr3:156478194-156478195
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156476830..156479789-chr3:156862694..156865587,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs11710516	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717138	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11927500	1.00[JPT][hapmap]
rs13321802	1.00[JPT][hapmap]
rs1355280	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1397194	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1397195	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1430412	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1510269	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1510270	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs168245	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16826858	1.00[JPT][hapmap]
rs16826864	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16826899	1.00[JPT][hapmap]
rs16826906	1.00[JPT][hapmap]
rs168295	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs171077	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171080	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs180746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180747	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs182935	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs182936	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184677	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1858229	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs186928	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs193198	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs193423	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054881	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2129909	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2136691	0.83[EUR][1000 genomes]
rs2136692	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2163296	0.80[ASN][1000 genomes]
rs237245	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs237246	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633815	1.00[JPT][hapmap]
rs2665390	0.83[LWK][hapmap];0.89[MKK][hapmap];0.89[ASN][1000 genomes]
rs28661978	0.83[ASN][1000 genomes]
rs2874490	1.00[JPT][hapmap]
rs2874491	1.00[JPT][hapmap]
rs343991	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343992	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs343995	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343996	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343997	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343998	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344000	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344001	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344005	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344006	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344008	0.89[ASN][1000 genomes]
rs344009	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344010	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344011	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344012	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344013	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344014	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344015	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344016	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344017	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344029	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs344032	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344048	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344052	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344053	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344054	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344055	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344058	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344059	1.00[CEU][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344060	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344061	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes]
rs344062	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344063	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs344064	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344065	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344066	0.89[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344068	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344069	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344070	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344076	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344077	0.83[ASN][1000 genomes]
rs344078	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344081	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344083	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344085	0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs344086	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344088	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344090	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344091	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs344092	1.00[JPT][hapmap]
rs345987	0.83[ASN][1000 genomes]
rs3796172	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs414683	1.00[JPT][hapmap]
rs419287	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs427384	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4279048	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4429586	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4679784	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4680297	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4680298	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4680299	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4680304	0.89[ASN][1000 genomes]
rs491423	1.00[JPT][hapmap]
rs5012666	0.83[EUR][1000 genomes]
rs59244547	0.83[ASN][1000 genomes]
rs6441088	0.83[LWK][hapmap]
rs6441092	1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6441093	0.83[EUR][1000 genomes]
rs6441094	0.83[EUR][1000 genomes]
rs6441095	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441099	1.00[JPT][hapmap]
rs6441100	1.00[JPT][hapmap]
rs6763644	1.00[JPT][hapmap]
rs6786167	1.00[JPT][hapmap]
rs6787535	1.00[JPT][hapmap]
rs6787952	1.00[JPT][hapmap]
rs6792917	1.00[JPT][hapmap]
rs6795327	1.00[JPT][hapmap]
rs6795516	1.00[JPT][hapmap]
rs6799457	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6802042	1.00[JPT][hapmap]
rs6802511	1.00[JPT][hapmap]
rs7609851	1.00[JPT][hapmap]
rs7618306	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7630909	1.00[JPT][hapmap]
rs7635521	1.00[JPT][hapmap]
rs7640593	0.83[EUR][1000 genomes]
rs7650127	1.00[JPT][hapmap]
rs871232	1.00[CEU][hapmap]
rs871233	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs931990	0.83[EUR][1000 genomes]
rs978108	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs978109	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9823112	1.00[CEU][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9833951	0.83[EUR][1000 genomes]
rs9847692	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9861359	1.00[JPT][hapmap]
rs9877043	0.83[EUR][1000 genomes]
rs9878709	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156471000-156478400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:156477800-156478400	Enhancers	GM12878-XiMat	blood
3	chr3:156477800-156479400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:156477800-156481000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:156477800-156481200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:156477800-156481200	Enhancers	NHEK	skin
7	chr3:156478000-156478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:156478000-156479200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:156478000-156479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:156478000-156479200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:156478000-156479200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:156478000-156480000	Enhancers	NHDF-Ad	bronchial
13	chr3:156478000-156481000	Enhancers	HMEC	breast
14	chr3:156478000-156482200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:156478000-156483400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:156478000-156483800	Enhancers	Muscle Satellite Cultured Cells	--

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