Variant report

Variant	rs17453672
Chromosome Location	chr8:119016902-119016903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
2	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
3	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11562671	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11562687	0.93[EUR][1000 genomes]
rs11562703	0.87[EUR][1000 genomes]
rs11562737	0.87[EUR][1000 genomes]
rs11562738	0.93[EUR][1000 genomes]
rs11562774	0.87[EUR][1000 genomes]
rs11562775	0.87[EUR][1000 genomes]
rs11562776	0.87[EUR][1000 genomes]
rs11562821	0.87[EUR][1000 genomes]
rs11562822	0.87[EUR][1000 genomes]
rs11562823	0.93[EUR][1000 genomes]
rs17430930	0.93[EUR][1000 genomes]
rs17430965	0.87[EUR][1000 genomes]
rs17431118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453344	0.93[EUR][1000 genomes]
rs17453357	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17453448	0.87[EUR][1000 genomes]
rs17453567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17453602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17475946	0.93[EUR][1000 genomes]
rs17476226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17476282	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17476296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4480147	0.80[EUR][1000 genomes]
rs57858101	1.00[EUR][1000 genomes]
rs59628055	0.87[EUR][1000 genomes]
rs60822517	0.87[EUR][1000 genomes]
rs61601333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004615	0.80[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:81 , 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	chr8:119013000-119017200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:119013000-119017200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:119013000-119021800	Weak transcription	Lung	lung
11	chr8:119013200-119017000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:119013200-119017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:119013200-119017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
17	chr8:119013400-119017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:119013400-119017000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:119013400-119017200	Weak transcription	Fetal Intestine Large	intestine
20	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:119013800-119017000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:119016200-119017400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:119016200-119018000	Enhancers	Fetal Lung	lung
24	chr8:119016200-119018400	Enhancers	HMEC	breast
25	chr8:119016200-119018600	Enhancers	Adipose Nuclei	Adipose
26	chr8:119016200-119019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:119016200-119019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:119016200-119019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:119016200-119026000	Enhancers	Liver	Liver
31	chr8:119016400-119017000	Enhancers	HSMMtube	muscle
32	chr8:119016400-119017400	Enhancers	Psoas Muscle	Psoas
33	chr8:119016400-119017400	Enhancers	GM12878-XiMat	blood
34	chr8:119016400-119017600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:119016400-119017600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:119016400-119017600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:119016400-119017600	Enhancers	Fetal Kidney	kidney
38	chr8:119016400-119017600	Enhancers	Ovary	ovary
39	chr8:119016400-119017600	Flanking Active TSS	NHEK	skin
40	chr8:119016400-119017800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:119016400-119017800	Flanking Active TSS	Hela-S3	cervix
42	chr8:119016400-119018000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:119016400-119018000	Enhancers	Fetal Muscle Leg	muscle
44	chr8:119016400-119018000	Enhancers	Left Ventricle	heart
45	chr8:119016400-119018000	Enhancers	Right Atrium	heart
46	chr8:119016400-119018000	Enhancers	Spleen	Spleen
47	chr8:119016400-119018000	Enhancers	HSMM	muscle
48	chr8:119016400-119018000	Flanking Active TSS	HUVEC	blood vessel
49	chr8:119016400-119018200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:119016400-119018200	Enhancers	Fetal Heart	heart

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