Variant report

Variant	rs2514718
Chromosome Location	chr8:119087857-119087858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:
2	chr8:119078696..119080896-chr8:119086138..119088865,2	MCF-7	breast:
3	chr8:119087073..119088904-chr8:119093455..119095090,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10955853	0.84[AFR][1000 genomes]
rs1824175	0.81[ASN][1000 genomes]
rs1824176	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1839	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255931	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445903	0.93[ASN][1000 genomes]
rs2447528	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447529	0.94[ASN][1000 genomes]
rs2447530	0.94[ASN][1000 genomes]
rs2447532	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447534	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447542	0.87[AMR][1000 genomes]
rs2451157	0.94[ASN][1000 genomes]
rs2451158	0.94[ASN][1000 genomes]
rs2451159	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468134	0.94[ASN][1000 genomes]
rs2468135	0.93[ASN][1000 genomes]
rs2514716	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514717	0.95[ASN][1000 genomes]
rs2514754	0.93[ASN][1000 genomes]
rs2514755	0.93[ASN][1000 genomes]
rs2514756	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297575	0.84[AFR][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	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
6	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
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
4	chr8:119078000-119099000	Weak transcription	Dnd41	blood
5	chr8:119078400-119088400	Weak transcription	Hela-S3	cervix
6	chr8:119078400-119091600	Weak transcription	Gastric	stomach
7	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:119085200-119088000	Enhancers	Fetal Brain Male	brain
9	chr8:119085200-119091600	Weak transcription	HSMM	muscle
10	chr8:119085400-119088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119085600-119089600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
13	chr8:119085800-119089800	Enhancers	Fetal Heart	heart
14	chr8:119086000-119088800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119086000-119089000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:119086200-119088000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119086200-119088200	Enhancers	Lung	lung
18	chr8:119086200-119088600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:119086200-119088800	Weak transcription	Liver	Liver
20	chr8:119086800-119088400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:119086800-119088600	Weak transcription	Esophagus	oesophagus
22	chr8:119086800-119089600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:119086800-119089800	Enhancers	Fetal Lung	lung
24	chr8:119087000-119088000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:119087000-119088000	Enhancers	Aorta	Aorta
26	chr8:119087000-119088000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:119087000-119088000	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:119087000-119088200	Enhancers	Right Ventricle	heart
29	chr8:119087000-119088200	Enhancers	HepG2	liver
30	chr8:119087000-119088400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:119087000-119088800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:119087000-119088800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:119087000-119088800	Enhancers	Psoas Muscle	Psoas
34	chr8:119087000-119088800	Enhancers	Right Atrium	heart
35	chr8:119087000-119089600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:119087000-119089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:119087000-119090000	Genic enhancers	Osteobl	bone
38	chr8:119087000-119090800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:119087200-119088000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:119087200-119088000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:119087200-119088000	Enhancers	Brain Germinal Matrix	brain
42	chr8:119087200-119088200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:119087200-119088600	Enhancers	Fetal Kidney	kidney
44	chr8:119087200-119089200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:119087200-119089200	Enhancers	Fetal Stomach	stomach
46	chr8:119087200-119089600	Enhancers	Ovary	ovary
47	chr8:119087200-119089800	Enhancers	NHDF-Ad	bronchial
48	chr8:119087200-119091000	Weak transcription	Fetal Intestine Large	intestine
49	chr8:119087200-119093200	Weak transcription	Fetal Intestine Small	intestine
50	chr8:119087400-119088200	Enhancers	Left Ventricle	heart

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