Variant report

Variant	rs17505304
Chromosome Location	chr8:119042304-119042305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119041694..119043358-chr8:119123015..119125384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097988	1.00[AMR][1000 genomes]
rs10099089	1.00[AMR][1000 genomes]
rs17475246	1.00[AMR][1000 genomes]
rs17475939	1.00[AMR][1000 genomes]
rs17475966	1.00[AMR][1000 genomes]
rs17476338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476380	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476623	1.00[AMR][1000 genomes]
rs17476700	1.00[AMR][1000 genomes]
rs17476924	1.00[AMR][1000 genomes]
rs17503962	1.00[AMR][1000 genomes]
rs17503990	1.00[AMR][1000 genomes]
rs17504018	1.00[AMR][1000 genomes]
rs17504736	1.00[AMR][1000 genomes]
rs17505086	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505513	1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[AMR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28445582	1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	1.00[AMR][1000 genomes]
rs57174831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs61306907	1.00[AMR][1000 genomes]
rs73704842	1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AMR][1000 genomes]
rs73704897	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119032400-119043200	Weak transcription	GM12878-XiMat	blood
2	chr8:119035000-119044600	Enhancers	Liver	Liver
3	chr8:119035600-119044200	Enhancers	HepG2	liver
4	chr8:119036400-119042800	Weak transcription	Esophagus	oesophagus
5	chr8:119036600-119046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:119037200-119046600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:119037600-119043200	Weak transcription	Fetal Brain Male	brain
8	chr8:119037600-119046600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:119037600-119046600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:119038200-119043200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:119038200-119046600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:119038400-119042400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:119038400-119043000	Weak transcription	Placenta	Placenta
14	chr8:119038400-119043200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:119038400-119046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:119038400-119046600	Weak transcription	Spleen	Spleen
17	chr8:119038400-119046800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:119038600-119042400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:119038600-119044000	Weak transcription	Fetal Kidney	kidney
20	chr8:119038800-119043000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:119038800-119046400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:119039200-119043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:119039200-119046400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:119039200-119046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:119039200-119046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:119039200-119046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:119039200-119049000	Weak transcription	HUVEC	blood vessel
28	chr8:119039400-119042800	Weak transcription	Lung	lung
29	chr8:119039400-119043000	Weak transcription	NHEK	skin
30	chr8:119040000-119045800	Weak transcription	Psoas Muscle	Psoas
31	chr8:119040000-119046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:119040000-119046600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:119040200-119043200	Weak transcription	Aorta	Aorta
34	chr8:119040400-119043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:119040400-119043000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:119040400-119046600	Weak transcription	Fetal Heart	heart
37	chr8:119040600-119043000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:119040600-119043200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:119040600-119043200	Weak transcription	Colonic Mucosa	Colon
40	chr8:119040600-119044000	Weak transcription	Right Atrium	heart
41	chr8:119040600-119044600	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
43	chr8:119041200-119042600	Enhancers	Small Intestine	intestine
44	chr8:119041200-119043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:119041200-119045000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:119041200-119046800	Enhancers	Osteobl	bone
47	chr8:119041400-119042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:119041400-119043400	Enhancers	Ovary	ovary
49	chr8:119041400-119044000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:119041400-119044400	Enhancers	Fetal Lung	lung

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