Variant report

Variant	rs7094783
Chromosome Location	chr10:96081137-96081138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:96081100-96081254	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96078728..96081715-chr10:96121062..96123375,2	MCF-7	breast:

Variant related genes	Relation type
PLCE1	TF binding region
ENSG00000173145	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10509670	0.89[ASN][1000 genomes]
rs10786161	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882416	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882422	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10882424	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882430	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882435	0.84[EUR][1000 genomes]
rs10882436	0.84[EUR][1000 genomes]
rs10882437	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11187850	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11187853	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187869	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11187876	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187881	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187893	0.84[EUR][1000 genomes]
rs11187894	0.84[EUR][1000 genomes]
rs11187899	0.84[EUR][1000 genomes]
rs11187900	0.84[EUR][1000 genomes]
rs11187901	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11558740	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12217597	0.83[EUR][1000 genomes]
rs12220125	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12263737	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12773229	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12780491	0.81[EUR][1000 genomes]
rs12781451	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2274223	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34689035	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3765524	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3781265	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3818432	0.94[EUR][1000 genomes]
rs6583934	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6583935	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583937	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6583940	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7074125	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7084339	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7084988	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7085378	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7092226	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7096037	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7099485	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7100430	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7100870	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7897678	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7897963	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7903902	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7908638	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7914672	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96036000-96081600	Weak transcription	Left Ventricle	heart
3	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
4	chr10:96049400-96081600	Weak transcription	Spleen	Spleen
5	chr10:96053000-96083200	Weak transcription	Fetal Kidney	kidney
6	chr10:96053200-96081600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:96059400-96083200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:96059600-96081600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:96067400-96081800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:96067400-96084400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:96069200-96089800	Weak transcription	HUVEC	blood vessel
12	chr10:96069600-96081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:96070200-96081800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:96070400-96081800	Weak transcription	Lung	lung
15	chr10:96071000-96081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:96071400-96081800	Weak transcription	Colonic Mucosa	Colon
17	chr10:96072600-96081600	Weak transcription	Esophagus	oesophagus
18	chr10:96072800-96093800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:96073200-96084200	Weak transcription	Brain Germinal Matrix	brain
20	chr10:96073800-96084000	Weak transcription	Ovary	ovary
21	chr10:96074000-96081600	Weak transcription	Fetal Brain Female	brain
22	chr10:96074000-96084200	Weak transcription	Gastric	stomach
23	chr10:96075200-96081200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:96075200-96081600	Weak transcription	Placenta	Placenta
25	chr10:96075200-96081800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:96075200-96081800	Weak transcription	Pancreas	Pancrea
27	chr10:96075200-96091000	Weak transcription	Right Ventricle	heart
28	chr10:96075200-96112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:96075400-96081600	Weak transcription	Aorta	Aorta
30	chr10:96075800-96081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:96075800-96081800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:96075800-96087200	Weak transcription	Small Intestine	intestine
33	chr10:96076000-96081800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:96076000-96081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:96076000-96081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:96076000-96089000	Weak transcription	Fetal Heart	heart
37	chr10:96076000-96095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:96076200-96081600	Weak transcription	Adipose Nuclei	Adipose
39	chr10:96076200-96083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:96076400-96081600	Weak transcription	NH-A	brain
41	chr10:96076400-96082800	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:96076400-96093600	Weak transcription	HepG2	liver
43	chr10:96076600-96081400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:96076600-96081600	Weak transcription	Fetal Intestine Large	intestine
45	chr10:96076600-96081600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:96076600-96081600	Weak transcription	HSMMtube	muscle
47	chr10:96076600-96081800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr10:96076600-96081800	Weak transcription	Fetal Lung	lung
49	chr10:96076600-96084400	Weak transcription	NHLF	lung
50	chr10:96076600-96090400	Weak transcription	NHDF-Ad	bronchial

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