Variant report

Variant	rs17431249
Chromosome Location	chr8:119016461-119016462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
2	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

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]
rs17430645	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
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]
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: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:80 , 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	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
5	chr8:119005000-119021200	Weak transcription	Gastric	stomach
6	chr8:119012000-119016600	Weak transcription	Aorta	Aorta
7	chr8:119013000-119016800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:119013000-119016800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:119013000-119016800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:119013000-119016800	Weak transcription	Stomach Mucosa	stomach
11	chr8:119013000-119017200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:119013000-119017200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:119013000-119021800	Weak transcription	Lung	lung
16	chr8:119013200-119016600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:119013200-119016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:119013200-119017000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:119013200-119017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:119013200-119017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
24	chr8:119013400-119017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:119013400-119017000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:119013400-119017200	Weak transcription	Fetal Intestine Large	intestine
27	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:119013600-119016600	Weak transcription	Small Intestine	intestine
29	chr8:119013600-119016800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:119013600-119016800	Weak transcription	Esophagus	oesophagus
31	chr8:119013600-119016800	Weak transcription	Fetal Intestine Small	intestine
32	chr8:119013800-119016600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:119013800-119016600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:119013800-119016600	Weak transcription	HepG2	liver
35	chr8:119013800-119017000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:119015800-119016600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:119016000-119016600	Enhancers	NH-A	brain
38	chr8:119016200-119016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:119016200-119016600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:119016200-119016600	Enhancers	A549	lung
41	chr8:119016200-119017400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:119016200-119018000	Enhancers	Fetal Lung	lung
43	chr8:119016200-119018400	Enhancers	HMEC	breast
44	chr8:119016200-119018600	Enhancers	Adipose Nuclei	Adipose
45	chr8:119016200-119019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:119016200-119019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:119016200-119019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:119016200-119026000	Enhancers	Liver	Liver
50	chr8:119016400-119016600	Enhancers	Brain Inferior Temporal Lobe	brain

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