Variant report

Variant	rs6750238
Chromosome Location	chr2:178744177-178744178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178727946..178730460-chr2:178742124..178744649,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10164920	1.00[JPT][hapmap]
rs10165089	1.00[JPT][hapmap]
rs10168605	1.00[JPT][hapmap]
rs10170290	1.00[JPT][hapmap]
rs10170607	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs10170914	1.00[CEU][hapmap]
rs10171486	1.00[JPT][hapmap]
rs10174604	1.00[JPT][hapmap]
rs10181377	1.00[JPT][hapmap]
rs10183144	1.00[JPT][hapmap]
rs10186239	1.00[JPT][hapmap]
rs10190066	1.00[JPT][hapmap]
rs10190805	1.00[JPT][hapmap]
rs10191328	1.00[JPT][hapmap]
rs10193299	1.00[JPT][hapmap]
rs10194612	1.00[JPT][hapmap]
rs10198681	1.00[JPT][hapmap]
rs10198877	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs10208501	1.00[JPT][hapmap]
rs10211341	1.00[JPT][hapmap]
rs10221783	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs10497483	1.00[JPT][hapmap]
rs10930817	1.00[JPT][hapmap]
rs12151755	1.00[JPT][hapmap]
rs12693128	1.00[JPT][hapmap]
rs12693133	1.00[JPT][hapmap]
rs12995449	1.00[JPT][hapmap]
rs13003683	1.00[JPT][hapmap]
rs13008170	1.00[JPT][hapmap]
rs13008780	1.00[JPT][hapmap]
rs13009350	1.00[JPT][hapmap]
rs13015148	1.00[JPT][hapmap]
rs13386418	1.00[JPT][hapmap]
rs13400109	1.00[JPT][hapmap]
rs13400411	1.00[JPT][hapmap]
rs13410185	1.00[JPT][hapmap]
rs13411527	1.00[JPT][hapmap]
rs13411542	1.00[JPT][hapmap]
rs13411922	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs13411970	1.00[JPT][hapmap]
rs13412181	1.00[CEU][hapmap]
rs13413095	1.00[JPT][hapmap]
rs13413731	1.00[JPT][hapmap]
rs13419437	1.00[JPT][hapmap]
rs13422276	1.00[JPT][hapmap]
rs13425873	1.00[JPT][hapmap]
rs13428032	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs1347440	0.85[AMR][1000 genomes]
rs1527291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865786	0.83[EUR][1000 genomes]
rs16865818	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865821	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865903	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865951	0.88[YRI][hapmap]
rs16865998	0.85[AMR][1000 genomes]
rs16865999	0.85[AMR][1000 genomes]
rs16866003	0.85[AMR][1000 genomes]
rs16866034	1.00[CEU][hapmap]
rs16866043	0.85[AMR][1000 genomes]
rs16866058	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs17329742	1.00[JPT][hapmap]
rs17329956	1.00[JPT][hapmap]
rs17401468	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs17401650	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs17401671	1.00[JPT][hapmap]
rs17401902	0.85[LWK][hapmap]
rs1898012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2015183	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3770053	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821011	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs41357848	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4377360	1.00[JPT][hapmap]
rs4423634	1.00[JPT][hapmap]
rs57019461	0.81[AFR][1000 genomes]
rs57352786	0.92[AFR][1000 genomes]
rs58297855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58779934	0.85[AFR][1000 genomes]
rs61339042	0.92[AFR][1000 genomes]
rs61448024	0.92[AFR][1000 genomes]
rs6708449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717171	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6733229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561059	1.00[JPT][hapmap]
rs7578601	1.00[YRI][hapmap]
rs9288011	1.00[JPT][hapmap]
rs9646795	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178734400-178744800	Weak transcription	Psoas Muscle	Psoas
2	chr2:178739400-178744800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:178739600-178744800	Weak transcription	HepG2	liver
4	chr2:178740000-178744800	Weak transcription	Fetal Intestine Small	intestine
5	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:178741600-178748000	Enhancers	Liver	Liver
7	chr2:178742600-178744800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:178743400-178744800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:178743400-178746200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178743800-178744200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:178743800-178745400	Enhancers	Fetal Heart	heart

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