Variant report

Variant	rs17430645
Chromosome Location	chr8:118922986-118922987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11562671	1.00[CEU][hapmap]
rs11562687	1.00[CEU][hapmap]
rs11562703	1.00[CEU][hapmap]
rs11562737	1.00[CEU][hapmap]
rs11562774	1.00[CEU][hapmap]
rs11562775	1.00[CEU][hapmap]
rs11562776	1.00[CEU][hapmap]
rs11562821	1.00[CEU][hapmap]
rs11562822	1.00[CEU][hapmap]
rs11562823	1.00[CEU][hapmap]
rs17430140	1.00[AFR][1000 genomes]
rs17430666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430721	1.00[CEU][hapmap]
rs17430755	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430819	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430930	1.00[CEU][hapmap]
rs17430965	1.00[CEU][hapmap]
rs17431152	1.00[CEU][hapmap]
rs17431166	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431208	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431215	1.00[CEU][hapmap]
rs17431249	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17453105	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453344	1.00[CEU][hapmap]
rs17453357	1.00[CEU][hapmap]
rs17453448	1.00[CEU][hapmap]
rs17453560	1.00[CEU][hapmap]
rs17453567	1.00[CEU][hapmap]
rs17453602	1.00[CEU][hapmap]
rs17453651	1.00[CEU][hapmap]
rs17453784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475946	1.00[CEU][hapmap]
rs17476226	1.00[CEU][hapmap]
rs17476233	1.00[CEU][hapmap]
rs17476254	1.00[CEU][hapmap]
rs17476296	1.00[CEU][hapmap]
rs28357283	1.00[AMR][1000 genomes]
rs28357284	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs56660440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673922	1.00[AFR][1000 genomes]
rs7843728	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843780	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844054	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844255	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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	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
4	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
5	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
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118909800-118923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:118913000-118923200	Weak transcription	Gastric	stomach
5	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:118917800-118923200	Weak transcription	Esophagus	oesophagus
8	chr8:118918000-118923000	Weak transcription	Pancreas	Pancrea
9	chr8:118919000-118926800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:118919800-118925800	Weak transcription	Small Intestine	intestine
12	chr8:118921200-118926400	Enhancers	NHDF-Ad	bronchial
13	chr8:118921200-118926600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:118921400-118923800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:118921400-118924600	Enhancers	HMEC	breast
16	chr8:118921600-118924000	Enhancers	NHEK	skin
17	chr8:118921600-118924200	Enhancers	NH-A	brain
18	chr8:118921600-118926400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:118921800-118923000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:118921800-118923200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:118921800-118924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:118921800-118926400	Enhancers	NHLF	lung
23	chr8:118922000-118923200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:118922000-118923400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:118922000-118924000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:118922200-118923200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:118922200-118923400	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:118922200-118923400	Enhancers	Right Atrium	heart
29	chr8:118922200-118923800	Enhancers	Fetal Muscle Leg	muscle
30	chr8:118922200-118923800	Enhancers	Right Ventricle	heart
31	chr8:118922200-118923800	Enhancers	HUVEC	blood vessel
32	chr8:118922200-118924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:118922200-118924000	Enhancers	Adipose Nuclei	Adipose
34	chr8:118922200-118924000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:118922200-118924000	Enhancers	Left Ventricle	heart
36	chr8:118922200-118924000	Enhancers	Ovary	ovary
37	chr8:118922400-118923000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:118922400-118923000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:118922400-118923000	Flanking Active TSS	A549	lung
40	chr8:118922400-118923400	Enhancers	Fetal Heart	heart
41	chr8:118922400-118924000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:118922400-118926400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:118922600-118923000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:118922600-118923200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:118922600-118923200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:118922600-118923200	Enhancers	Stomach Smooth Muscle	stomach
47	chr8:118922600-118923400	Enhancers	Fetal Brain Male	brain
48	chr8:118922600-118923400	Enhancers	HSMMtube	muscle
49	chr8:118922600-118923800	Enhancers	Aorta	Aorta
50	chr8:118922600-118923800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links