Variant report

Variant	rs17450681
Chromosome Location	chr8:118874892-118874893
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	chr8:118874390..118877427-chr8:119122549..119125397,3	MCF-7	breast:
2	chr8:118874293..118875149-chr8:119132498..119133544,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10090920	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10091596	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10094440	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10094527	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10098149	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098896	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10098992	0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs10102199	0.82[EUR][1000 genomes]
rs10102974	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs10103242	0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs10103734	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10105753	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs10107623	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10109017	0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10109062	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10111197	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10111573	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10111748	0.82[EUR][1000 genomes]
rs10111990	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs10112120	0.82[EUR][1000 genomes]
rs10113092	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430042	0.82[EUR][1000 genomes]
rs17430154	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430175	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430182	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430252	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430273	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430294	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17430301	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17439791	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17439798	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17439812	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17439840	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17439847	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs17439868	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17450494	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs17450612	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs17450661	0.85[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17450667	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17452687	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17474672	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17474679	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17474839	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17479362	0.82[EUR][1000 genomes]
rs17503377	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17503447	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2067866	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs6987177	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs73706423	0.82[EUR][1000 genomes]
rs73706427	0.82[EUR][1000 genomes]
rs7835395	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs9656922	0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs9792392	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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
6	nsv612026	chr8:118871476-118875535	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	esv3503420	chr8:118873121-118876619	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3503421	chr8:118873121-118876619	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3481486	chr8:118873566-118875551	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3481487	chr8:118873566-118875551	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv512062	chr8:118873680-118875924	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv12380	chr8:118874053-118875618	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv612028	chr8:118874307-118875062	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv612029	chr8:118874307-118875168	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv612030	chr8:118874307-118875201	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv612031	chr8:118874307-118875308	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv612032	chr8:118874307-118875496	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv612033	chr8:118874307-118875535	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv612034	chr8:118874307-118879130	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv612035	chr8:118874307-118881866	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv612036	chr8:118874410-118875062	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv612037	chr8:118874410-118875168	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv612038	chr8:118874410-118875201	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv612039	chr8:118874463-118875062	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv612040	chr8:118874463-118875168	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv612041	chr8:118874515-118875201	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv612042	chr8:118874515-118875535	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv612043	chr8:118874563-118875201	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv612044	chr8:118874563-118875535	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv612045	chr8:118874740-118875535	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118861200-118875000	Weak transcription	Right Ventricle	heart
2	chr8:118861400-118878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:118861600-118876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:118861600-118878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:118864200-118878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:118870000-118876000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:118870000-118876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:118872400-118876000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:118872600-118875600	Enhancers	HMEC	breast
11	chr8:118872600-118876000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:118872600-118876400	Enhancers	Colon Smooth Muscle	Colon
13	chr8:118872800-118876400	Enhancers	Liver	Liver
14	chr8:118873000-118875000	Enhancers	Osteobl	bone
15	chr8:118873200-118875400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:118873200-118875800	Weak transcription	Small Intestine	intestine
17	chr8:118873200-118876400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:118873400-118876200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
20	chr8:118873800-118876200	Enhancers	NHLF	lung
21	chr8:118874000-118875600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:118874000-118876000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:118874000-118876200	Enhancers	Fetal Lung	lung
24	chr8:118874000-118876200	Enhancers	Ovary	ovary
25	chr8:118874000-118881200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:118874200-118875000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:118874200-118875000	Enhancers	HSMMtube	muscle
28	chr8:118874200-118875400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr8:118874200-118875400	Enhancers	HSMM	muscle
30	chr8:118874200-118876000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr8:118874200-118876400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:118874200-118876600	Enhancers	NHDF-Ad	bronchial
33	chr8:118874200-118876800	Enhancers	A549	lung
34	chr8:118874200-118878000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:118874400-118876200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:118874400-118876200	Enhancers	Fetal Muscle Leg	muscle
37	chr8:118874400-118876200	Enhancers	Stomach Mucosa	stomach
38	chr8:118874400-118876400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:118874400-118876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:118874600-118875200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:118874600-118875600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:118874600-118875600	Enhancers	Aorta	Aorta
43	chr8:118874600-118875600	Enhancers	Hela-S3	cervix
44	chr8:118874600-118875800	Enhancers	HUVEC	blood vessel
45	chr8:118874600-118876200	Enhancers	Adipose Nuclei	Adipose
46	chr8:118874600-118876200	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:118874600-118876400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:118874600-118876400	Enhancers	NHEK	skin
49	chr8:118874600-118876800	Enhancers	Fetal Heart	heart
50	chr8:118874800-118875000	Enhancers	HUES64 Cell Line	embryonic stem cell

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