Variant report

Variant	rs17506086
Chromosome Location	chr8:119093950-119093951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119087073..119088904-chr8:119093455..119095090,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]
rs17505821	1.00[YRI][hapmap]
rs17505924	1.00[YRI][hapmap]
rs17506128	1.00[YRI][hapmap]
rs17506142	1.00[YRI][hapmap]

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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
2	chr8:119078000-119099000	Weak transcription	Dnd41	blood
3	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
5	chr8:119087400-119094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:119087600-119094800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:119087600-119095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:119087600-119099200	Weak transcription	Pancreas	Pancrea
9	chr8:119087600-119101800	Weak transcription	Fetal Thymus	thymus
10	chr8:119087800-119096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:119087800-119098600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:119088000-119098400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:119088000-119100200	Weak transcription	Aorta	Aorta
14	chr8:119088200-119096600	Weak transcription	Left Ventricle	heart
15	chr8:119088200-119102000	Weak transcription	Lung	lung
16	chr8:119088200-119102000	Weak transcription	Right Ventricle	heart
17	chr8:119088800-119099200	Weak transcription	Psoas Muscle	Psoas
18	chr8:119089200-119100400	Weak transcription	Fetal Stomach	stomach
19	chr8:119089600-119097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:119089600-119098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:119089600-119098600	Weak transcription	Ovary	ovary
22	chr8:119089600-119100400	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:119089800-119094200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:119089800-119095400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:119089800-119102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:119090000-119099200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:119090800-119094400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:119090800-119102000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:119091000-119094400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:119091200-119094000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:119091800-119098600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:119092000-119097400	Genic enhancers	Osteobl	bone
33	chr8:119092200-119099200	Weak transcription	Fetal Intestine Large	intestine
34	chr8:119092400-119094400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:119092400-119094600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:119092400-119095400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:119092400-119095400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:119092400-119098200	Weak transcription	Fetal Lung	lung
39	chr8:119092400-119098200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:119092400-119100400	Weak transcription	HMEC	breast
41	chr8:119092400-119102000	Weak transcription	Gastric	stomach
42	chr8:119092400-119104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:119092600-119094600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:119092600-119096200	Weak transcription	NHLF	lung
45	chr8:119092600-119097000	Weak transcription	HUVEC	blood vessel
46	chr8:119092600-119098600	Weak transcription	NHEK	skin
47	chr8:119092600-119099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:119092600-119100800	Weak transcription	HSMM	muscle
49	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:119092800-119094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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