Variant report

Variant	rs16878547
Chromosome Location	chr5:60367377-60367378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60365711..60368002-chr5:60369594..60371777,2	K562	blood:

Extended variants
information (count: 192 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10064187	0.86[ASN][1000 genomes]
rs10076937	0.80[ASN][1000 genomes]
rs1020371	0.85[ASN][1000 genomes]
rs1038144	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10471502	0.94[ASN][1000 genomes]
rs10514906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11744756	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][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	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	0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs158571	0.91[ASN][1000 genomes]
rs158572	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs158696	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158697	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158700	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158914	0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158915	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158918	0.97[ASN][1000 genomes]
rs158919	0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158921	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	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	0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs158936	0.91[ASN][1000 genomes]
rs158937	1.00[JPT][hapmap];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];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159371	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs159374	0.88[ASN][1000 genomes]
rs159375	1.00[CHB][hapmap];1.00[CHD][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]
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	0.97[ASN][1000 genomes]
rs162248	0.94[ASN][1000 genomes]
rs162251	0.94[ASN][1000 genomes]
rs168710	0.94[ASN][1000 genomes]
rs16878548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.85[ASN][1000 genomes]
rs187459	0.94[ASN][1000 genomes]
rs1989653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080869	0.94[ASN][1000 genomes]
rs2120954	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2120955	0.86[ASN][1000 genomes]
rs2263514	0.94[ASN][1000 genomes]
rs2270822	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[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];0.90[CHD][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	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2694528	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	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];0.84[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	0.90[CHD][hapmap];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];0.90[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs34636	1.00[CHB][hapmap];0.90[CHD][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	1.00[JPT][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];0.90[CHD][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	0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4235484	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs42437	0.94[ASN][1000 genomes]
rs4546327	0.85[ASN][1000 genomes]
rs4647045	1.00[CHB][hapmap]
rs4647102	0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4647138	0.80[ASN][1000 genomes]
rs4647139	0.80[ASN][1000 genomes]
rs4647151	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4699963	0.85[ASN][1000 genomes]
rs4699967	0.94[ASN][1000 genomes]
rs4700406	0.94[ASN][1000 genomes]
rs4700410	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56409036	0.94[ASN][1000 genomes]
rs59292447	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6862622	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6863749	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[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];0.87[AMR][1000 genomes];1.00[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs723276	0.94[ASN][1000 genomes]
rs7712364	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7718028	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7723754	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs810883	1.00[CHB][hapmap];0.90[CHD][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	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929780	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs973304	0.85[ASN][1000 genomes]
rs976080	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs9763418	0.80[ASN][1000 genomes]
rs976581	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16878547	ERCC8	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60347200-60379200	Weak transcription	Ovary	ovary
3	chr5:60349400-60370800	Weak transcription	HSMM	muscle
4	chr5:60350400-60371400	Weak transcription	NHDF-Ad	bronchial
5	chr5:60350600-60378600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:60350800-60396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:60357800-60369000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:60362800-60377200	Weak transcription	Psoas Muscle	Psoas
9	chr5:60363000-60369200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:60365200-60372400	Weak transcription	Dnd41	blood
11	chr5:60365600-60369200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:60365600-60376400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:60365600-60387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:60366400-60397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:60366800-60368200	Enhancers	Fetal Kidney	kidney
16	chr5:60367000-60367400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:60367000-60367600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:60367000-60367600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:60367000-60367800	Enhancers	Stomach Mucosa	stomach
20	chr5:60367000-60368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:60367000-60368000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:60367000-60368000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:60367000-60368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:60367000-60368200	Enhancers	Fetal Intestine Small	intestine
25	chr5:60367200-60367400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:60367200-60367400	Weak transcription	NHEK	skin
27	chr5:60367200-60367600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:60367200-60367600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:60367200-60367600	Active TSS	Duodenum Mucosa	Duodenum
30	chr5:60367200-60369000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:60367200-60382200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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