Variant report

Variant	rs3817615
Chromosome Location	chr7:3678514-3678515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10216009	0.80[CHD][hapmap]
rs10225865	0.84[CHB][hapmap]
rs10230406	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231366	0.84[EUR][1000 genomes]
rs10233162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235750	0.89[CHB][hapmap]
rs10236517	0.83[EUR][1000 genomes]
rs10237270	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10245607	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10246062	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10247668	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10256371	0.90[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs10258910	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260558	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10262079	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10263338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10267519	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271664	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10275915	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10275918	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279369	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10280102	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951254	0.86[CHD][hapmap]
rs10951264	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs1122065	0.86[ASN][1000 genomes]
rs11767639	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs11971242	0.87[EUR][1000 genomes]
rs11972207	0.85[EUR][1000 genomes]
rs11974255	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11976554	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11976762	0.85[EUR][1000 genomes]
rs11976780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977537	0.80[ASN][1000 genomes]
rs11978956	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11979907	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979940	0.86[ASN][1000 genomes]
rs12111969	0.83[CEU][hapmap]
rs13223746	0.81[CEU][hapmap]
rs16870900	0.82[ASN][1000 genomes]
rs17133566	0.81[CHD][hapmap]
rs17133591	0.82[ASN][1000 genomes]
rs17133605	0.86[CHB][hapmap]
rs17133624	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1864842	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1922014	0.82[ASN][1000 genomes]
rs1922015	0.82[ASN][1000 genomes]
rs1991758	0.89[ASN][1000 genomes]
rs2002670	0.87[EUR][1000 genomes]
rs2002671	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2016197	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2060179	0.86[ASN][1000 genomes]
rs2082359	0.89[EUR][1000 genomes]
rs2178626	0.83[CHD][hapmap]
rs2272527	0.84[CEU][hapmap]
rs2341447	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2341448	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs2341449	0.87[EUR][1000 genomes]
rs2341450	0.86[EUR][1000 genomes]
rs2341451	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2341452	0.87[EUR][1000 genomes]
rs2341453	0.87[EUR][1000 genomes]
rs2341587	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs2705606	0.86[CHD][hapmap]
rs28684473	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28698721	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28712054	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4449688	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4722980	0.84[CHB][hapmap]
rs55785035	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56025717	0.83[EUR][1000 genomes]
rs56100032	0.86[EUR][1000 genomes]
rs56329315	0.87[ASN][1000 genomes]
rs56669571	0.83[ASN][1000 genomes]
rs56995955	0.82[ASN][1000 genomes]
rs57125879	0.84[ASN][1000 genomes]
rs57444839	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57473088	0.85[ASN][1000 genomes]
rs57480717	0.87[ASN][1000 genomes]
rs57515074	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57709741	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58498999	0.83[ASN][1000 genomes]
rs58617422	0.80[ASN][1000 genomes]
rs58688082	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465686	0.81[ASN][1000 genomes]
rs60281960	0.93[ASN][1000 genomes]
rs60372133	0.85[ASN][1000 genomes]
rs60673182	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61175597	0.94[ASN][1000 genomes]
rs61425932	0.87[ASN][1000 genomes]
rs61531398	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6462200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462201	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462203	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462207	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462212	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs6462218	0.87[EUR][1000 genomes]
rs6945446	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6959706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961261	0.86[ASN][1000 genomes]
rs6961396	0.81[CHB][hapmap]
rs6964347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6968326	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6969256	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs6971989	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs7341473	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73673633	0.87[ASN][1000 genomes]
rs73673634	0.87[ASN][1000 genomes]
rs750820	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs750821	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs750822	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs752586	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7776767	0.90[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7782934	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7792749	0.83[EUR][1000 genomes]
rs7793515	0.90[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs7793775	0.83[EUR][1000 genomes]
rs7800550	0.88[EUR][1000 genomes]
rs7800738	0.98[ASN][1000 genomes]
rs7800891	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7802868	0.83[ASN][1000 genomes]
rs7805946	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7807210	0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7811339	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891856	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs919709	0.80[CHB][hapmap]
rs957360	0.81[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9654994	0.85[CHD][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3817615	SDK1	cis	Whole Blood	GTEx

Chromatin state (count:16 , 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	chr7:3676200-3688600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:3676400-3681200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:3676600-3687800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:3677400-3681000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:3677600-3683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:3678000-3681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:3678200-3678800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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