Variant report

Variant	rs7255785
Chromosome Location	chr19:37971683-37971684
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	chr19:37970659..37972436-chr19:37977630..37979796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267381	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1015848	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1015849	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1035479	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403582	0.91[EUR][1000 genomes]
rs10404920	0.81[EUR][1000 genomes]
rs10404945	0.87[EUR][1000 genomes]
rs10405064	0.81[EUR][1000 genomes]
rs10405325	0.84[EUR][1000 genomes]
rs10405407	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10406177	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10407084	0.89[EUR][1000 genomes]
rs10409204	0.91[EUR][1000 genomes]
rs10411574	0.89[EUR][1000 genomes]
rs10413602	0.86[EUR][1000 genomes]
rs10414904	0.80[EUR][1000 genomes]
rs10415937	0.80[EUR][1000 genomes]
rs10417844	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10420430	0.86[EUR][1000 genomes]
rs10420722	0.92[EUR][1000 genomes]
rs10420754	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422074	0.86[EUR][1000 genomes]
rs10422667	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10426618	0.93[EUR][1000 genomes]
rs11083426	0.84[EUR][1000 genomes]
rs11671972	0.89[ASN][1000 genomes]
rs12709813	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12972252	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12979470	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12981532	0.86[EUR][1000 genomes]
rs13343471	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13343502	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13345116	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1373991	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1382357	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559229	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2045908	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081096	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112920	0.83[EUR][1000 genomes]
rs2112922	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2112923	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126977	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279148	0.84[EUR][1000 genomes]
rs2279149	0.84[EUR][1000 genomes]
rs2291004	0.88[EUR][1000 genomes]
rs2303131	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28373708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28538699	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28605784	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28623164	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2891699	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35540940	0.88[EUR][1000 genomes]
rs35777021	0.91[EUR][1000 genomes]
rs3745765	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3760825	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803895	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452075	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4801759	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4801803	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802766	0.93[EUR][1000 genomes]
rs4802889	0.90[EUR][1000 genomes]
rs4803195	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4803229	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803347	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4803460	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803539	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59224125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110394	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6508719	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6508732	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508733	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs713256	0.83[EUR][1000 genomes]
rs7246993	0.86[EUR][1000 genomes]
rs7247259	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7248733	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252099	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7252325	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252346	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253114	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7255407	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255952	0.91[EUR][1000 genomes]
rs7255972	0.91[EUR][1000 genomes]
rs7255996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256130	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73631095	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8106839	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109038	0.85[EUR][1000 genomes]
rs8109632	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111782	0.81[EUR][1000 genomes]
rs8112610	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676739	0.91[EUR][1000 genomes]
rs9676967	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv579467	chr19:37969499-37972805	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7255785	ZNF793	cis	lung	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37961000-37973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37961000-37974000	Weak transcription	Stomach Mucosa	stomach
3	chr19:37961400-37980400	ZNF genes & repeats	Liver	Liver
4	chr19:37962200-37976200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:37962200-37976400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:37962200-37977800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:37962200-37977800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37962400-37977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37962400-37979200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:37963200-37976600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:37963200-37981000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:37963800-37976400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr19:37963800-37985600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:37964000-37976400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:37964200-37977600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:37966200-37976400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:37966200-37979200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:37966200-37984000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr19:37966400-37976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:37966600-37976000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr19:37966600-37976200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
22	chr19:37966600-37977800	ZNF genes & repeats	Fetal Lung	lung
23	chr19:37966600-37977800	ZNF genes & repeats	Dnd41	blood
24	chr19:37966800-37977600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:37967400-37972600	Weak transcription	NH-A	brain
26	chr19:37967800-37973000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr19:37968200-37972600	Weak transcription	Brain Angular Gyrus	brain
28	chr19:37968200-37972600	Weak transcription	HSMMtube	muscle
29	chr19:37968200-37972600	Weak transcription	HUVEC	blood vessel
30	chr19:37968200-37973000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:37968800-37972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:37969400-37977400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr19:37969400-37978200	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr19:37969600-37972200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:37969600-37972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:37969600-37975800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:37969800-37976400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:37970000-37972400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:37970200-37978000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:37970200-37979000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:37970400-37973000	Weak transcription	Fetal Heart	heart
42	chr19:37970600-37972600	Weak transcription	Osteobl	bone
43	chr19:37970800-37977800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:37971000-37972400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:37971000-37972400	ZNF genes & repeats	Fetal Stomach	stomach
46	chr19:37971000-37973800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:37971000-37974000	ZNF genes & repeats	Aorta	Aorta
48	chr19:37971000-37974000	ZNF genes & repeats	Lung	lung
49	chr19:37971000-37974200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:37971000-37974200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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