Variant report

Variant	rs17128428
Chromosome Location	chr8:19302625-19302626
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	chr8:19294799..19297740-chr8:19300863..19302648,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10090079	1.00[AFR][1000 genomes]
rs10096485	0.83[AFR][1000 genomes]
rs10481442	1.00[AFR][1000 genomes]
rs17128520	0.91[AFR][1000 genomes]
rs28491635	0.83[AFR][1000 genomes]
rs28558362	1.00[AFR][1000 genomes]
rs28607676	0.83[AFR][1000 genomes]
rs28872331	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
6	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19271800-19305200	Weak transcription	Pancreas	Pancrea
2	chr8:19277600-19307800	Weak transcription	Fetal Stomach	stomach
3	chr8:19278000-19304800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19283800-19307800	Weak transcription	Ovary	ovary
5	chr8:19291600-19308000	Weak transcription	Right Ventricle	heart
6	chr8:19295000-19318800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:19295800-19302800	Weak transcription	Thymus	Thymus
8	chr8:19296600-19309400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:19296600-19317400	Weak transcription	Hela-S3	cervix
10	chr8:19297200-19309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:19297400-19313400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:19297600-19304000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:19297600-19307800	Weak transcription	Left Ventricle	heart
14	chr8:19297600-19308000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:19297600-19319000	Weak transcription	Spleen	Spleen
16	chr8:19300000-19313800	Weak transcription	Fetal Heart	heart
17	chr8:19300400-19305800	Strong transcription	Placenta	Placenta
18	chr8:19300600-19319200	Weak transcription	Gastric	stomach
19	chr8:19301400-19303800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:19301600-19317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:19301800-19303000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:19301800-19307800	Weak transcription	Right Atrium	heart
23	chr8:19302000-19302800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:19302000-19303000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:19302000-19303200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:19302000-19303200	Enhancers	HUVEC	blood vessel
27	chr8:19302000-19304200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:19302200-19302800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:19302200-19303000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:19302200-19303000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:19302200-19303000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:19302200-19303200	Enhancers	Adipose Nuclei	Adipose
33	chr8:19302200-19303200	Enhancers	HepG2	liver
34	chr8:19302200-19303400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:19302200-19304800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:19302400-19302800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:19302400-19302800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:19302400-19303000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:19302400-19303200	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:19302400-19303400	Genic enhancers	A549	lung
41	chr8:19302400-19303600	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:19302400-19305200	Enhancers	Fetal Thymus	thymus
43	chr8:19302600-19302800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr8:19302600-19303200	Enhancers	Primary B cells from cord blood	blood
45	chr8:19302600-19303400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr8:19302600-19303400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr8:19302600-19303400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:19302600-19303400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr8:19302600-19303400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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