Variant report

Variant	rs957360
Chromosome Location	chr7:3660918-3660919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3657416..3659816-chr7:3660917..3663637,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10085602	0.81[CEU][hapmap]
rs10215541	0.80[ASN][1000 genomes]
rs10215554	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs10215632	0.80[ASN][1000 genomes]
rs10216009	0.81[CEU][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.80[ASN][1000 genomes]
rs10225865	0.89[CHB][hapmap]
rs10227151	0.81[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs10230406	0.89[ASN][1000 genomes]
rs10233162	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10235750	0.83[CHB][hapmap]
rs10236989	0.81[ASN][1000 genomes]
rs10237270	0.86[ASN][1000 genomes]
rs10238783	0.81[CEU][hapmap]
rs10241070	0.81[ASN][1000 genomes]
rs10245607	0.89[ASN][1000 genomes]
rs10246062	0.85[ASN][1000 genomes]
rs10247668	0.81[CEU][hapmap]
rs10256371	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs10258910	0.95[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10259072	0.81[CEU][hapmap]
rs10260558	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10262079	0.85[ASN][1000 genomes]
rs10263338	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10264275	0.80[ASN][1000 genomes]
rs10267519	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10271664	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10272876	0.81[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs10275747	0.85[CEU][hapmap]
rs10275915	0.85[ASN][1000 genomes]
rs10275918	0.85[ASN][1000 genomes]
rs10276626	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10277776	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs10279369	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs10280102	0.90[ASN][1000 genomes]
rs10951254	0.84[CHD][hapmap]
rs10951264	0.86[CHB][hapmap];0.91[CHD][hapmap]
rs1122065	0.86[ASN][1000 genomes]
rs11531493	0.80[ASN][1000 genomes]
rs11767639	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs11974255	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11976554	0.85[ASN][1000 genomes]
rs11976780	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs11977942	0.81[CEU][hapmap]
rs11979907	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11979940	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12055947	0.80[CHB][hapmap]
rs12111969	0.84[CEU][hapmap]
rs12670592	0.81[ASN][1000 genomes]
rs12672248	0.81[CEU][hapmap]
rs1522505	0.81[CEU][hapmap]
rs1608136	0.81[CEU][hapmap]
rs16870900	0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17133420	0.85[JPT][hapmap]
rs17133426	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs17133432	0.85[JPT][hapmap]
rs17133501	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs17133554	0.80[ASN][1000 genomes]
rs17133555	0.81[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs17133591	0.85[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17133605	0.80[CHB][hapmap]
rs17133624	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1864842	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs1922014	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1922015	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1922017	0.81[CEU][hapmap]
rs1922019	0.81[CEU][hapmap]
rs1991758	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002671	0.90[CEU][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2016197	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060179	0.96[ASN][1000 genomes]
rs2141825	0.81[ASN][1000 genomes]
rs2178626	0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272527	0.80[CEU][hapmap]
rs2341447	0.90[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs2341448	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs2341451	0.86[ASN][1000 genomes]
rs2341587	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs2614966	0.83[CHB][hapmap]
rs2705606	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs28451147	0.81[ASN][1000 genomes]
rs28684473	0.86[ASN][1000 genomes]
rs28712054	0.86[ASN][1000 genomes]
rs3817615	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]
rs4449688	0.85[ASN][1000 genomes]
rs55785035	0.86[ASN][1000 genomes]
rs56329315	0.96[ASN][1000 genomes]
rs56669571	0.89[ASN][1000 genomes]
rs56995955	0.91[ASN][1000 genomes]
rs57125879	0.93[ASN][1000 genomes]
rs57473088	0.95[ASN][1000 genomes]
rs57480717	0.96[ASN][1000 genomes]
rs57515074	0.86[ASN][1000 genomes]
rs58498999	0.92[ASN][1000 genomes]
rs58688082	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59465686	0.90[ASN][1000 genomes]
rs60281960	0.93[ASN][1000 genomes]
rs60372133	0.95[ASN][1000 genomes]
rs60673182	0.86[ASN][1000 genomes]
rs61175597	0.85[ASN][1000 genomes]
rs61425932	0.96[ASN][1000 genomes]
rs61531398	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462121	0.81[CEU][hapmap]
rs6462200	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6462201	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6462203	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462207	0.90[ASN][1000 genomes]
rs6462212	0.90[CEU][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs6945446	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6947615	0.81[CEU][hapmap]
rs6959706	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6961261	0.96[ASN][1000 genomes]
rs6961396	0.86[CHB][hapmap]
rs6964347	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs6968326	0.86[ASN][1000 genomes]
rs6969256	0.86[CHB][hapmap];0.91[CHD][hapmap]
rs6971989	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7341473	0.86[ASN][1000 genomes]
rs73673633	0.96[ASN][1000 genomes]
rs73673634	0.96[ASN][1000 genomes]
rs750820	0.85[ASN][1000 genomes]
rs750821	0.85[ASN][1000 genomes]
rs750822	0.85[ASN][1000 genomes]
rs752586	0.85[ASN][1000 genomes]
rs7776767	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs7782934	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7793515	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs7800738	0.89[ASN][1000 genomes]
rs7800891	0.88[ASN][1000 genomes]
rs7800962	0.81[CEU][hapmap]
rs7802868	0.92[ASN][1000 genomes]
rs7805598	0.81[CEU][hapmap]
rs7805946	0.90[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap]
rs7807210	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7811339	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs919709	0.85[CHB][hapmap]
rs9654994	0.83[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9771445	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	esv1792280	chr7:3592290-3668229	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv605928	chr7:3654580-3665040	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs957360	NENF	trans	cerebellum	SCAN
rs957360	SDK1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3649600-3673400	Weak transcription	Pancreas	Pancrea
2	chr7:3654400-3667600	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:3655400-3662000	Weak transcription	Fetal Lung	lung
4	chr7:3656800-3668800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:3657400-3665000	Weak transcription	Spleen	Spleen
6	chr7:3657400-3669800	Weak transcription	Fetal Stomach	stomach
7	chr7:3657600-3661000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:3659200-3684400	Weak transcription	Right Ventricle	heart
9	chr7:3660800-3663400	Weak transcription	Aorta	Aorta
10	chr7:3660800-3666200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:3660800-3666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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