Variant report

Variant	rs10464994
Chromosome Location	chr8:19521273-19521274
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	chr8:19517559..19519398-chr8:19521074..19523001,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60443509	1.00[ASN][1000 genomes]
rs60778959	1.00[ASN][1000 genomes]
rs7012082	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:19512200-19522400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19515200-19523000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:19516600-19525000	Enhancers	Placenta	Placenta
4	chr8:19518000-19522200	Enhancers	HepG2	liver
5	chr8:19518200-19521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:19518200-19524000	Enhancers	NHEK	skin
7	chr8:19518200-19524200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:19518600-19524000	Enhancers	HMEC	breast
9	chr8:19519200-19522600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:19519400-19521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:19519400-19522800	Enhancers	Primary T cells from cord blood	blood
12	chr8:19519600-19521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:19519600-19521600	Enhancers	Left Ventricle	heart
14	chr8:19519600-19522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:19519800-19521400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:19519800-19522600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:19519800-19523800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:19519800-19524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19520000-19521400	Enhancers	NHDF-Ad	bronchial
20	chr8:19520000-19521800	Enhancers	Right Ventricle	heart
21	chr8:19520000-19522400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:19520000-19524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:19520200-19521600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:19520200-19521600	Enhancers	Ovary	ovary
25	chr8:19520200-19521600	Flanking Active TSS	Hela-S3	cervix
26	chr8:19520200-19522400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:19520200-19523200	Enhancers	Right Atrium	heart
28	chr8:19520200-19523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:19520200-19529000	Enhancers	Primary B cells from cord blood	blood
30	chr8:19520400-19521800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:19520400-19522000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:19520400-19523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:19520400-19523800	Enhancers	NH-A	brain
34	chr8:19520400-19527600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:19520400-19528600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:19520400-19530400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:19520600-19521400	Flanking Active TSS	A549	lung
41	chr8:19520600-19522200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:19520600-19523800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:19520600-19523800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:19520600-19525000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:19520600-19527200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:19520600-19528400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:19520600-19528600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:19520600-19528600	Weak transcription	Lung	lung
49	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus

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