Variant report

Variant	rs17451050
Chromosome Location	chr8:118949709-118949710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17431728	1.00[CHB][hapmap]
rs17431748	1.00[CHB][hapmap]
rs17431757	1.00[CHB][hapmap]
rs17454120	1.00[CHB][hapmap]
rs1870100	1.00[CHB][hapmap]
rs6992023	1.00[CHB][hapmap]
rs7843725	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
2	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
3	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:118943800-118950800	Enhancers	Liver	Liver
5	chr8:118946000-118950600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr8:118946200-118950400	Enhancers	Fetal Heart	heart
7	chr8:118946200-118950600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118946400-118953000	Enhancers	NHLF	lung
9	chr8:118946600-118950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:118946800-118949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:118946800-118950000	Weak transcription	Colonic Mucosa	Colon
12	chr8:118946800-118950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:118946800-118952400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
15	chr8:118947000-118951200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:118947000-118952200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:118947000-118956000	Weak transcription	Gastric	stomach
18	chr8:118947200-118949800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:118947200-118949800	Weak transcription	Ovary	ovary
20	chr8:118947200-118949800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:118947200-118952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:118947400-118949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:118947400-118949800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:118947400-118951800	Weak transcription	Primary T cells from cord blood	blood
25	chr8:118947400-118952000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:118947400-118952400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:118947400-118952800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:118947400-118953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
30	chr8:118947600-118949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:118947600-118949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:118947600-118952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:118947600-118953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:118947800-118949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:118947800-118952400	Weak transcription	Lung	lung
36	chr8:118947800-118952800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:118948200-118950600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:118948400-118949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:118948400-118951800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:118949000-118950000	Weak transcription	Aorta	Aorta
41	chr8:118949000-118950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:118949200-118949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:118949200-118949800	Enhancers	NHDF-Ad	bronchial
44	chr8:118949200-118950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:118949200-118950200	Enhancers	Colon Smooth Muscle	Colon
46	chr8:118949200-118950400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:118949200-118950400	Enhancers	Brain Anterior Caudate	brain
48	chr8:118949200-118950400	Enhancers	Rectal Smooth Muscle	rectum
49	chr8:118949200-118950400	Enhancers	HSMMtube	muscle
50	chr8:118949200-118950600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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