Variant report

Variant	rs17431284
Chromosome Location	chr8:119019138-119019139
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10955843	0.86[CHB][hapmap]
rs10955844	0.93[CHB][hapmap]
rs10955847	0.93[CHB][hapmap]
rs17431291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126630	0.86[JPT][hapmap]
rs28357298	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7834892	0.86[CHB][hapmap]

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:79 , 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	chr8:119005000-119021200	Weak transcription	Gastric	stomach
5	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:119013000-119021800	Weak transcription	Lung	lung
8	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
11	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:119016200-119019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:119016200-119019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119016200-119026000	Enhancers	Liver	Liver
16	chr8:119016400-119019200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:119016600-119021200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:119016800-119023200	Enhancers	NHDF-Ad	bronchial
19	chr8:119017000-119019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:119017400-119021200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:119017400-119021200	Weak transcription	Psoas Muscle	Psoas
22	chr8:119017600-119020200	Weak transcription	Placenta	Placenta
23	chr8:119017600-119020200	Enhancers	NHEK	skin
24	chr8:119017600-119021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:119017600-119021000	Weak transcription	HSMMtube	muscle
26	chr8:119017600-119021200	Weak transcription	Fetal Kidney	kidney
27	chr8:119017600-119021200	Weak transcription	Ovary	ovary
28	chr8:119017600-119021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:119017600-119021600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:119017600-119022800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:119017800-119019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:119017800-119019600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:119017800-119020200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:119017800-119021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:119017800-119021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:119017800-119021200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:119017800-119021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:119017800-119021200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:119017800-119021200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:119017800-119021200	Weak transcription	Stomach Mucosa	stomach
41	chr8:119017800-119022800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:119017800-119022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:119018000-119019200	Enhancers	HUVEC	blood vessel
44	chr8:119018000-119019600	Weak transcription	HSMM	muscle
45	chr8:119018000-119020200	Weak transcription	Left Ventricle	heart
46	chr8:119018000-119020400	Weak transcription	Right Ventricle	heart
47	chr8:119018000-119020600	Weak transcription	Right Atrium	heart
48	chr8:119018000-119020800	Weak transcription	Fetal Lung	lung
49	chr8:119018000-119021200	Weak transcription	Fetal Intestine Large	intestine
50	chr8:119018000-119021200	Weak transcription	Fetal Intestine Small	intestine

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