Variant report

Variant	rs10099230
Chromosome Location	chr8:119066031-119066032
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119064917..119066588-chr8:119122468..119124143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10088107	0.96[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10088828	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095646	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104745	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106128	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1020916	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10216949	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10505325	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10955850	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10955851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11562725	0.96[CEU][hapmap];0.82[JPT][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11562727	0.96[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11562814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12541849	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12544344	0.93[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13264371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271950	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13277304	0.96[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277610	0.96[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13282822	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2100617	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2124959	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4876399	0.81[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6990802	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997001	0.96[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004377	0.86[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325947	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7357466	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7357586	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7357588	0.93[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7813805	0.92[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7819492	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7829981	0.92[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7832327	0.84[EUR][1000 genomes]
rs7833710	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs881989	0.93[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9649944	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9650073	0.93[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
2	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
3	chr8:119062000-119066400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119062000-119067400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:119062200-119066200	Weak transcription	Psoas Muscle	Psoas
7	chr8:119062200-119066200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:119062200-119068400	Weak transcription	Left Ventricle	heart
9	chr8:119062200-119068600	Weak transcription	Right Atrium	heart
10	chr8:119062200-119068600	Weak transcription	Stomach Mucosa	stomach
11	chr8:119062200-119068800	Weak transcription	Esophagus	oesophagus
12	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
14	chr8:119063600-119066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:119063800-119066800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119063800-119066800	Enhancers	NH-A	brain
17	chr8:119063800-119067000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:119064000-119066600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:119064000-119069400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:119064000-119070600	Enhancers	HMEC	breast
21	chr8:119064200-119066600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:119064200-119066800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:119064400-119067000	Enhancers	HSMM	muscle
24	chr8:119064400-119067400	Enhancers	Osteobl	bone
25	chr8:119064600-119066200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:119064800-119066200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:119064800-119066200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:119064800-119066200	Genic enhancers	NHDF-Ad	bronchial
29	chr8:119064800-119066400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:119064800-119066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:119064800-119067000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:119064800-119067400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:119065000-119066200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:119065000-119066800	Enhancers	A549	lung
35	chr8:119065000-119071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:119065400-119066800	Enhancers	HepG2	liver
37	chr8:119065400-119067200	Enhancers	Liver	Liver
38	chr8:119065400-119068200	Weak transcription	HSMMtube	muscle
39	chr8:119065400-119068200	Enhancers	NHEK	skin
40	chr8:119065400-119068600	Weak transcription	Aorta	Aorta
41	chr8:119065400-119068800	Weak transcription	Gastric	stomach
42	chr8:119065400-119073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:119065600-119066600	Enhancers	Fetal Intestine Large	intestine
44	chr8:119065600-119068400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:119065600-119068800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:119065600-119069400	Enhancers	NHLF	lung
47	chr8:119065600-119072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:119065600-119072800	Weak transcription	Ovary	ovary
49	chr8:119065600-119072800	Weak transcription	Spleen	Spleen
50	chr8:119065600-119073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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