Variant report

Variant	rs8112706
Chromosome Location	chr19:38257313-38257314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38256038..38258477-chr19:38258531..38260725,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10048511	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10401968	0.83[EUR][1000 genomes]
rs10402530	0.82[EUR][1000 genomes]
rs10403173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10404567	1.00[CEU][hapmap]
rs10408619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs10409402	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10409487	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10415548	0.83[CEU][hapmap]
rs10420746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420891	0.82[EUR][1000 genomes]
rs11083432	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs1119229	0.87[CEU][hapmap]
rs11673023	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11878269	0.83[EUR][1000 genomes]
rs11879180	0.82[EUR][1000 genomes]
rs1291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12974225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975057	0.82[EUR][1000 genomes]
rs12979640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs16958861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs16958863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs171376	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1725499	0.83[CEU][hapmap]
rs1974714	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1975937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2075281	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs2075284	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2287229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs241932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241933	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241950	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909085	0.82[ASN][1000 genomes]
rs2909088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs2909093	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2909098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2909100	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2909102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs2909105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs2909109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs2927739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2927740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap]
rs2927746	0.81[ASN][1000 genomes]
rs2927747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs2972430	0.81[ASN][1000 genomes]
rs2972434	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972445	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2972448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs3095724	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3095726	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112434	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs353410	0.83[CEU][hapmap]
rs353411	0.83[CEU][hapmap]
rs353414	1.00[CEU][hapmap]
rs353415	1.00[CEU][hapmap]
rs353423	1.00[CEU][hapmap]
rs3786869	0.83[CEU][hapmap]
rs3829688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs3848626	0.82[EUR][1000 genomes]
rs4239516	0.82[CEU][hapmap]
rs4802135	0.86[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs4803262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs4803509	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803524	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs4803551	0.87[CEU][hapmap]
rs4803573	0.87[CEU][hapmap]
rs56151076	0.81[ASN][1000 genomes]
rs6508736	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6508742	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs705491	0.87[CEU][hapmap]
rs705492	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs705493	0.87[CEU][hapmap]
rs705494	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs705495	0.87[CEU][hapmap]
rs7250409	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs7257125	0.83[EUR][1000 genomes]
rs8101752	0.82[EUR][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs8103633	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8104076	0.83[EUR][1000 genomes]
rs8110284	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs8113521	0.83[CEU][hapmap]
rs8182498	0.82[EUR][1000 genomes]
rs833926	1.00[CEU][hapmap]
rs856300	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs856304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304569	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958305	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs968073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8112706	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
2	chr19:38231000-38258200	Weak transcription	Brain Anterior Caudate	brain
3	chr19:38231000-38258400	Weak transcription	Fetal Kidney	kidney
4	chr19:38231000-38258800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:38231800-38257600	Weak transcription	HSMM	muscle
9	chr19:38231800-38258200	Weak transcription	HSMMtube	muscle
10	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
11	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
12	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
14	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
15	chr19:38239400-38257400	Weak transcription	Brain Angular Gyrus	brain
16	chr19:38242200-38258400	Weak transcription	NHDF-Ad	bronchial
17	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:38243000-38258200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:38245200-38258200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38246200-38258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:38246800-38259600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:38246800-38259800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:38247400-38258200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:38247400-38259800	Weak transcription	Placenta	Placenta
25	chr19:38247800-38260000	Weak transcription	Osteobl	bone
26	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
27	chr19:38248400-38264600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:38248800-38269400	Weak transcription	NH-A	brain
29	chr19:38249000-38259000	Weak transcription	Thymus	Thymus
30	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
31	chr19:38249400-38258200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:38250400-38259600	Weak transcription	Esophagus	oesophagus
34	chr19:38250600-38262600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr19:38250600-38264000	Strong transcription	Primary T cells from cord blood	blood
36	chr19:38250600-38264400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:38250600-38265000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:38250600-38266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:38250800-38261400	Strong transcription	Fetal Stomach	stomach
40	chr19:38251000-38258400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:38251000-38259600	Weak transcription	Brain Germinal Matrix	brain
42	chr19:38251200-38258800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:38251400-38261200	Strong transcription	Fetal Muscle Leg	muscle
44	chr19:38251800-38269400	Weak transcription	Gastric	stomach
45	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
46	chr19:38252200-38259600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:38252600-38269000	Weak transcription	NHEK	skin
49	chr19:38252800-38257800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:38253000-38260000	Weak transcription	HepG2	liver

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