Variant report

Variant	rs12540148
Chromosome Location	chr7:3676120-3676121
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	chr7:3675585..3677733-chr7:3691127..3693566,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1010002	1.00[JPT][hapmap]
rs10226719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10228744	0.85[JPT][hapmap]
rs10235617	1.00[JPT][hapmap]
rs10245071	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10250929	1.00[JPT][hapmap]
rs10257937	0.88[ASN][1000 genomes]
rs10264803	1.00[JPT][hapmap]
rs10274012	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10485876	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10951207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10951255	1.00[YRI][hapmap]
rs10951265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951266	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951272	1.00[ASN][1000 genomes]
rs10951273	1.00[ASN][1000 genomes]
rs11763915	1.00[ASN][1000 genomes]
rs11765058	1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11766767	0.84[CEU][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11768609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769660	0.81[ASN][1000 genomes]
rs11770829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12531560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531698	1.00[YRI][hapmap]
rs12533563	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12534865	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536371	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536753	0.85[ASN][1000 genomes]
rs12537980	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538202	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12539289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs12540209	0.94[ASN][1000 genomes]
rs12701005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs12701014	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13223065	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs13223852	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs13239833	0.88[ASN][1000 genomes]
rs13240060	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13240393	0.97[ASN][1000 genomes]
rs13242531	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13247619	0.87[ASN][1000 genomes]
rs1522502	1.00[YRI][hapmap]
rs17320730	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1922016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002669	0.94[ASN][1000 genomes]
rs2033441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082360	1.00[ASN][1000 genomes]
rs2099302	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2341579	0.85[ASN][1000 genomes]
rs2341580	0.85[ASN][1000 genomes]
rs2341584	0.82[JPT][hapmap]
rs2341585	0.82[ASN][1000 genomes]
rs2341586	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2614950	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2614951	0.91[ASN][1000 genomes]
rs2614955	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2614957	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2686851	0.83[ASN][1000 genomes]
rs2705604	0.82[ASN][1000 genomes]
rs2705609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2880085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880086	0.86[EUR][1000 genomes]
rs2880087	1.00[JPT][hapmap]
rs34024103	0.82[ASN][1000 genomes]
rs34108699	0.88[ASN][1000 genomes]
rs34188874	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34263851	1.00[ASN][1000 genomes]
rs34369020	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703718	0.97[ASN][1000 genomes]
rs34704704	0.82[ASN][1000 genomes]
rs34784806	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34872052	0.82[ASN][1000 genomes]
rs34953429	0.82[ASN][1000 genomes]
rs35453716	0.82[ASN][1000 genomes]
rs35513976	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35635220	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35669868	0.82[ASN][1000 genomes]
rs36005986	1.00[ASN][1000 genomes]
rs3919653	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4342491	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4719964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4719998	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719999	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720001	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4722903	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4722976	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722993	1.00[ASN][1000 genomes]
rs4722994	0.94[ASN][1000 genomes]
rs4722995	1.00[ASN][1000 genomes]
rs4722997	1.00[ASN][1000 genomes]
rs4723001	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs62437874	0.82[ASN][1000 genomes]
rs62437895	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62437901	1.00[ASN][1000 genomes]
rs62440182	0.82[ASN][1000 genomes]
rs6462216	1.00[ASN][1000 genomes]
rs67062941	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6956079	1.00[ASN][1000 genomes]
rs6974350	1.00[ASN][1000 genomes]
rs6974872	0.94[ASN][1000 genomes]
rs71527450	0.89[ASN][1000 genomes]
rs73037689	0.82[ASN][1000 genomes]
rs7779391	1.00[JPT][hapmap]
rs956393	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9648355	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs968775	0.82[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830888	chr7:3577214-3776276	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv948390	chr7:3609821-3734421	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1033415	chr7:3616095-3753563	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538680	chr7:3616095-3753563	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016930	chr7:3627295-3705057	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv530553	chr7:3629504-3736851	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1016270	chr7:3650882-3753563	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538681	chr7:3650882-3753563	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3659200-3684400	Weak transcription	Right Ventricle	heart
2	chr7:3667400-3678600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3670400-3686600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3671000-3678600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:3671000-3695600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:3674000-3678600	Weak transcription	Pancreas	Pancrea
7	chr7:3674000-3681200	Weak transcription	Aorta	Aorta
8	chr7:3674000-3682600	Weak transcription	Fetal Brain Female	brain
9	chr7:3674600-3684400	Weak transcription	Fetal Lung	lung
10	chr7:3675200-3676400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:3676000-3676200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:3676000-3676400	Enhancers	NHDF-Ad	bronchial
13	chr7:3676000-3676600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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