Variant report

Variant	rs8111782
Chromosome Location	chr19:37867904-37867905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37867252..37869425-chr19:37869859..37871564,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1015848	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1015849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1035479	0.91[EUR][1000 genomes]
rs10403582	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10403613	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10404602	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10404920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10404945	0.93[CEU][hapmap]
rs10405064	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10405325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405407	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs10406177	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs10407084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10412043	0.90[EUR][1000 genomes]
rs10413602	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10414904	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs10415024	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10415358	0.93[EUR][1000 genomes]
rs10415937	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs10417503	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417844	0.93[CEU][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes]
rs10420430	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420722	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10420754	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs10422074	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10422423	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10422667	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10422967	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10424574	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426297	0.84[EUR][1000 genomes]
rs10426618	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10426666	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10426699	0.93[EUR][1000 genomes]
rs12104380	0.88[EUR][1000 genomes]
rs12104381	0.90[EUR][1000 genomes]
rs12709812	0.86[EUR][1000 genomes]
rs12709813	0.91[EUR][1000 genomes]
rs12972252	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12979470	0.86[EUR][1000 genomes]
rs12981532	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12982333	0.83[EUR][1000 genomes]
rs13343471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13343485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13345116	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs13345148	0.91[EUR][1000 genomes]
rs1373991	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs1382357	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs1529957	0.87[CEU][hapmap]
rs1559229	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823061	0.86[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs2045908	0.81[EUR][1000 genomes]
rs2081096	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs2112920	0.80[ASN][1000 genomes]
rs2112922	0.81[EUR][1000 genomes]
rs2112923	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2126977	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs2279148	0.94[CEU][hapmap]
rs2279149	0.93[CEU][hapmap]
rs2291004	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2303131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28373708	0.81[EUR][1000 genomes]
rs28402338	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28538699	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28623164	0.86[EUR][1000 genomes]
rs2891699	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs35085437	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35777021	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3745765	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs3760825	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs3803895	0.91[EUR][1000 genomes]
rs4417644	1.00[CEU][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4452075	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4801759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4801803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4802766	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802889	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4803210	0.83[CEU][hapmap]
rs4803229	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes]
rs4803347	0.91[EUR][1000 genomes]
rs4803460	0.91[EUR][1000 genomes]
rs4803539	0.91[EUR][1000 genomes]
rs4969487	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57795776	0.80[EUR][1000 genomes]
rs59224125	0.82[EUR][1000 genomes]
rs6508711	0.91[EUR][1000 genomes]
rs6508713	0.82[EUR][1000 genomes]
rs6508714	0.82[EUR][1000 genomes]
rs6508715	0.82[EUR][1000 genomes]
rs6508716	0.90[EUR][1000 genomes]
rs6508719	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6508732	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs6508733	0.93[CEU][hapmap];0.95[JPT][hapmap]
rs67293224	0.86[EUR][1000 genomes]
rs713256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7246657	0.86[CEU][hapmap];0.80[JPT][hapmap]
rs7246993	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247259	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7248733	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs7252099	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252325	0.86[EUR][1000 genomes]
rs7252346	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs7253091	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs7253114	0.93[CEU][hapmap];0.80[JPT][hapmap]
rs7255407	0.86[EUR][1000 genomes]
rs7255785	0.81[EUR][1000 genomes]
rs7255952	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7255972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7255996	0.81[EUR][1000 genomes]
rs7256130	0.83[EUR][1000 genomes]
rs7257495	0.91[EUR][1000 genomes]
rs7257672	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs7258692	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs7259968	0.91[EUR][1000 genomes]
rs73631095	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7408133	0.93[EUR][1000 genomes]
rs7408446	0.81[EUR][1000 genomes]
rs7408563	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs8106839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8109038	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs8109632	0.86[EUR][1000 genomes]
rs8112011	0.82[CHB][hapmap]
rs8112610	0.83[EUR][1000 genomes]
rs9304566	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9676739	0.81[EUR][1000 genomes]
rs9676967	0.86[EUR][1000 genomes]
rs9917081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8111782	ZNF793	cis	lung	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37862600-37871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37862800-37870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:37862800-37871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:37863200-37872000	Weak transcription	Fetal Heart	heart
5	chr19:37863400-37872000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:37863800-37868800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:37863800-37873200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:37864000-37869000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:37864000-37869400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:37864000-37882000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:37864000-37882000	ZNF genes & repeats	Liver	Liver
12	chr19:37864400-37869000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr19:37864400-37869200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:37864400-37880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:37864400-37880800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:37864600-37868800	ZNF genes & repeats	Ovary	ovary
17	chr19:37864600-37869200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37864600-37873400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:37864600-37880600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr19:37864600-37890600	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:37864800-37870800	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr19:37864800-37870800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:37865000-37868800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:37865000-37870800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:37865000-37871000	Strong transcription	Brain Anterior Caudate	brain
26	chr19:37865000-37875400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:37865000-37880600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:37865200-37868600	Strong transcription	Osteobl	bone
29	chr19:37865200-37869000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:37865200-37870000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:37865200-37870400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:37865200-37874200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:37865200-37874600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:37865400-37868000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:37865400-37868400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:37865400-37868400	Strong transcription	Fetal Kidney	kidney
37	chr19:37865400-37868800	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr19:37865400-37880600	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr19:37865800-37869200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr19:37865800-37875800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:37866000-37868200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:37866000-37868400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:37866000-37869800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:37866000-37870800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:37866000-37874200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:37866200-37870800	Weak transcription	NHDF-Ad	bronchial
47	chr19:37866600-37869400	ZNF genes & repeats	Fetal Stomach	stomach
48	chr19:37866600-37871000	Strong transcription	Left Ventricle	heart
49	chr19:37866800-37870800	Weak transcription	HUVEC	blood vessel
50	chr19:37867000-37868200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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