Variant report

Variant	rs17505093
Chromosome Location	chr8:119016281-119016282
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	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
2	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17476637	1.00[AMR][1000 genomes]
rs17476756	1.00[AMR][1000 genomes]
rs17476882	1.00[AMR][1000 genomes]
rs17503264	1.00[AMR][1000 genomes]
rs17503537	1.00[AMR][1000 genomes]
rs17505450	1.00[AMR][1000 genomes]
rs17505527	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:119005000-119016400	Weak transcription	Left Ventricle	heart
5	chr8:119005000-119016400	Weak transcription	Right Atrium	heart
6	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
7	chr8:119005000-119021200	Weak transcription	Gastric	stomach
8	chr8:119007800-119016400	Weak transcription	Psoas Muscle	Psoas
9	chr8:119008400-119016400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:119011200-119016400	Weak transcription	HSMM	muscle
11	chr8:119012000-119016600	Weak transcription	Aorta	Aorta
12	chr8:119013000-119016400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:119013000-119016400	Weak transcription	Fetal Kidney	kidney
14	chr8:119013000-119016400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:119013000-119016400	Weak transcription	Ovary	ovary
16	chr8:119013000-119016400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:119013000-119016400	Weak transcription	Spleen	Spleen
18	chr8:119013000-119016800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:119013000-119016800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:119013000-119016800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:119013000-119016800	Weak transcription	Stomach Mucosa	stomach
22	chr8:119013000-119017200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:119013000-119017200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:119013000-119021800	Weak transcription	Lung	lung
27	chr8:119013200-119016600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:119013200-119016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:119013200-119017000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:119013200-119017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:119013200-119017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
35	chr8:119013400-119017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:119013400-119017000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:119013400-119017200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:119013600-119016400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:119013600-119016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:119013600-119016400	Weak transcription	Pancreas	Pancrea
42	chr8:119013600-119016400	Weak transcription	GM12878-XiMat	blood
43	chr8:119013600-119016400	Weak transcription	NHLF	lung
44	chr8:119013600-119016600	Weak transcription	Small Intestine	intestine
45	chr8:119013600-119016800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:119013600-119016800	Weak transcription	Esophagus	oesophagus
47	chr8:119013600-119016800	Weak transcription	Fetal Intestine Small	intestine
48	chr8:119013800-119016400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:119013800-119016400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:119013800-119016600	Weak transcription	Rectal Mucosa Donor 29	rectum

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