Variant report

Variant	rs17474727
Chromosome Location	chr8:118855469-118855470
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	8:118854388-118858307..8:119119523-119124860	GM12878	blood:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17474393	1.00[YRI][hapmap]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17503747	1.00[YRI][hapmap]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:118828600-118857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
8	chr8:118832600-118859800	Weak transcription	Spleen	Spleen
9	chr8:118835000-118859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:118835000-118859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:118841600-118857200	Weak transcription	Fetal Intestine Large	intestine
12	chr8:118844200-118857200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:118845400-118859600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:118846600-118861800	Weak transcription	HUVEC	blood vessel
15	chr8:118848000-118859800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:118848200-118859600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:118848400-118859800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:118848800-118858000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:118849000-118857200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:118849000-118859000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:118849200-118859000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:118849400-118856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:118849400-118857000	Weak transcription	Pancreas	Pancrea
24	chr8:118849400-118859000	Weak transcription	Fetal Stomach	stomach
25	chr8:118849600-118856200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:118849600-118865800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:118849800-118859200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:118850000-118856200	Enhancers	Osteobl	bone
29	chr8:118850600-118859800	Weak transcription	A549	lung
30	chr8:118851200-118856200	Enhancers	NHDF-Ad	bronchial
31	chr8:118851600-118855800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:118852400-118856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:118852800-118858800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:118853000-118855800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:118853000-118855800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:118853000-118856000	Enhancers	NHEK	skin
37	chr8:118853200-118855800	Enhancers	Ovary	ovary
38	chr8:118853400-118856200	Enhancers	NHLF	lung
39	chr8:118853400-118859200	Weak transcription	Brain Anterior Caudate	brain
40	chr8:118853600-118858400	Weak transcription	Fetal Brain Male	brain
41	chr8:118853600-118860000	Weak transcription	Right Ventricle	heart
42	chr8:118853800-118856800	Weak transcription	Fetal Lung	lung
43	chr8:118853800-118857400	Weak transcription	Small Intestine	intestine
44	chr8:118853800-118859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:118853800-118861200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:118854000-118856000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:118854200-118856200	Enhancers	NH-A	brain
48	chr8:118854200-118858000	Weak transcription	Fetal Heart	heart
49	chr8:118854400-118855600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:118854400-118855800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links