Variant report

Variant	rs158699
Chromosome Location	chr5:60325888-60325889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60321206..60323750-chr5:60323786..60326003,2	K562	blood:
2	chr5:60324520..60326950-chr5:60332622..60334608,2	K562	blood:
3	chr5:60240835..60243505-chr5:60324746..60327313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000049167	Chromatin interaction
ENSG00000164182	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10062465	0.82[ASN][1000 genomes]
rs10064187	0.86[ASN][1000 genomes]
rs10076937	0.80[ASN][1000 genomes]
rs1020371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1038144	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs10471502	0.94[ASN][1000 genomes]
rs10514906	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11744756	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11957772	0.94[ASN][1000 genomes]
rs124898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12518865	0.94[ASN][1000 genomes]
rs12522154	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13155076	0.80[ASN][1000 genomes]
rs13168191	0.94[ASN][1000 genomes]
rs1382914	0.94[ASN][1000 genomes]
rs158564	0.94[ASN][1000 genomes]
rs158570	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs158571	0.91[ASN][1000 genomes]
rs158572	1.00[JPT][hapmap]
rs158696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158914	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158915	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158918	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs158919	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158921	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs158922	0.91[ASN][1000 genomes]
rs158923	0.94[ASN][1000 genomes]
rs158924	0.94[ASN][1000 genomes]
rs158927	0.86[ASN][1000 genomes]
rs158929	0.86[ASN][1000 genomes]
rs158931	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158932	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs158933	0.91[ASN][1000 genomes]
rs158934	0.91[ASN][1000 genomes]
rs158935	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158936	0.91[ASN][1000 genomes]
rs158937	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs158938	0.91[ASN][1000 genomes]
rs159357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159374	0.88[ASN][1000 genomes]
rs159375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159376	0.88[ASN][1000 genomes]
rs159377	0.88[ASN][1000 genomes]
rs159378	0.88[ASN][1000 genomes]
rs159380	0.88[ASN][1000 genomes]
rs162227	0.84[AMR][1000 genomes]
rs162228	0.86[ASN][1000 genomes]
rs162234	0.94[ASN][1000 genomes]
rs162238	0.94[ASN][1000 genomes]
rs162241	0.94[ASN][1000 genomes]
rs162242	0.94[ASN][1000 genomes]
rs162243	0.97[ASN][1000 genomes]
rs162244	0.94[ASN][1000 genomes]
rs162246	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs162248	0.94[ASN][1000 genomes]
rs162251	0.94[ASN][1000 genomes]
rs168710	0.94[ASN][1000 genomes]
rs16878547	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878548	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169700	0.94[ASN][1000 genomes]
rs172348	0.94[ASN][1000 genomes]
rs172945	0.94[ASN][1000 genomes]
rs1820082	0.86[ASN][1000 genomes]
rs182410	0.88[ASN][1000 genomes]
rs1867598	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs187459	0.94[ASN][1000 genomes]
rs1989653	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080869	0.94[ASN][1000 genomes]
rs2120954	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2120955	0.86[ASN][1000 genomes]
rs2263514	0.94[ASN][1000 genomes]
rs2270822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248677	0.94[ASN][1000 genomes]
rs248682	0.94[ASN][1000 genomes]
rs248683	0.94[ASN][1000 genomes]
rs248685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs248688	0.94[ASN][1000 genomes]
rs2545475	0.88[ASN][1000 genomes]
rs2545478	0.83[ASN][1000 genomes]
rs2545493	0.91[ASN][1000 genomes]
rs2545503	0.88[ASN][1000 genomes]
rs256375	0.88[ASN][1000 genomes]
rs256376	0.88[ASN][1000 genomes]
rs2590570	0.91[ASN][1000 genomes]
rs2619890	0.94[ASN][1000 genomes]
rs2619893	0.94[ASN][1000 genomes]
rs2650512	0.94[ASN][1000 genomes]
rs2650517	0.94[ASN][1000 genomes]
rs2694518	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2694528	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2694530	0.94[ASN][1000 genomes]
rs2694531	0.94[ASN][1000 genomes]
rs28407266	0.86[ASN][1000 genomes]
rs290503	0.94[ASN][1000 genomes]
rs290506	0.94[ASN][1000 genomes]
rs290507	0.94[ASN][1000 genomes]
rs290511	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs290513	0.94[ASN][1000 genomes]
rs290514	0.86[ASN][1000 genomes]
rs290515	0.86[ASN][1000 genomes]
rs2950235	0.94[ASN][1000 genomes]
rs295522	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs295524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295531	0.88[ASN][1000 genomes]
rs295533	0.94[ASN][1000 genomes]
rs295551	0.88[ASN][1000 genomes]
rs295559	0.88[ASN][1000 genomes]
rs295560	0.88[ASN][1000 genomes]
rs295561	0.88[ASN][1000 genomes]
rs295563	0.88[ASN][1000 genomes]
rs295564	0.88[ASN][1000 genomes]
rs295566	0.86[ASN][1000 genomes]
rs295569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs295573	0.88[ASN][1000 genomes]
rs295578	0.88[ASN][1000 genomes]
rs295579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3101879	0.94[ASN][1000 genomes]
rs3108388	0.94[ASN][1000 genomes]
rs3117	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs329622	0.94[ASN][1000 genomes]
rs329623	0.94[ASN][1000 genomes]
rs329624	0.94[ASN][1000 genomes]
rs329625	0.94[ASN][1000 genomes]
rs329626	0.94[ASN][1000 genomes]
rs34591	0.94[ASN][1000 genomes]
rs34592	0.94[ASN][1000 genomes]
rs34593	0.94[ASN][1000 genomes]
rs34610	0.88[ASN][1000 genomes]
rs34614	0.88[ASN][1000 genomes]
rs34621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34624	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs34636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34637	0.88[ASN][1000 genomes]
rs34638	0.94[ASN][1000 genomes]
rs34639	0.94[ASN][1000 genomes]
rs34643	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs34644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35546392	0.83[ASN][1000 genomes]
rs35617853	0.85[ASN][1000 genomes]
rs35766700	0.80[ASN][1000 genomes]
rs35948426	0.80[ASN][1000 genomes]
rs39661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs40084	0.94[ASN][1000 genomes]
rs40421	0.94[ASN][1000 genomes]
rs4141502	0.94[ASN][1000 genomes]
rs4235483	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4235484	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs42437	0.94[ASN][1000 genomes]
rs4546327	0.85[ASN][1000 genomes]
rs4647045	1.00[CHB][hapmap]
rs4647102	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4647138	0.80[ASN][1000 genomes]
rs4647139	0.80[ASN][1000 genomes]
rs4647151	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs4699963	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4699967	0.94[ASN][1000 genomes]
rs4700406	0.94[ASN][1000 genomes]
rs4700410	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56409036	0.94[ASN][1000 genomes]
rs59292447	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6862622	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6863749	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6868884	0.94[ASN][1000 genomes]
rs6869073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6869454	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6878124	0.94[ASN][1000 genomes]
rs6885989	0.80[ASN][1000 genomes]
rs6886481	0.94[ASN][1000 genomes]
rs6893210	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs723276	0.94[ASN][1000 genomes]
rs7712364	0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7718028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7723754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs810883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs810884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9291702	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929780	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs973304	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs976080	1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes]
rs9763418	0.80[ASN][1000 genomes]
rs976581	0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518695	chr5:60266875-60329624	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324400-60326200	Enhancers	Fetal Brain Male	brain
3	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:60324800-60326000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:60324800-60326200	Enhancers	Stomach Smooth Muscle	stomach
6	chr5:60325200-60326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:60325200-60326000	Enhancers	Liver	Liver
8	chr5:60325200-60326000	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:60325200-60326200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:60325200-60326200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:60325200-60326400	Enhancers	NHLF	lung
12	chr5:60325200-60326800	Enhancers	NHDF-Ad	bronchial
13	chr5:60325400-60326000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:60325400-60326000	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr5:60325400-60326000	Enhancers	Left Ventricle	heart
16	chr5:60325400-60326000	Enhancers	Ovary	ovary
17	chr5:60325400-60326200	Enhancers	Aorta	Aorta
18	chr5:60325600-60326000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:60325600-60326200	Enhancers	Fetal Lung	lung
20	chr5:60325600-60326200	Enhancers	Fetal Stomach	stomach
21	chr5:60325600-60326200	Enhancers	Osteobl	bone
22	chr5:60325600-60326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:60325600-60326800	Enhancers	Fetal Brain Female	brain
24	chr5:60325800-60326000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:60325800-60326200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:60325800-60326400	Enhancers	Muscle Satellite Cultured Cells	--

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