Variant report

Variant	rs9643120
Chromosome Location	chr8:119019738-119019739
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	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
2	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087446	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10097196	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10105797	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10955846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125103	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs11780699	0.84[CEU][hapmap]
rs11781153	0.83[CEU][hapmap]
rs11781245	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs13256042	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260665	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462985	0.85[JPT][hapmap]
rs1466429	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap]
rs1564132	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168667	0.85[JPT][hapmap]
rs2199545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2219724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325820	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2325821	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2447535	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs2447536	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs2447537	0.84[CEU][hapmap]
rs2447538	0.85[JPT][hapmap]
rs2447539	0.85[JPT][hapmap]
rs2447540	0.83[CEU][hapmap]
rs2447541	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs2514719	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs2514720	0.84[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2514727	0.96[ASN][1000 genomes]
rs3101574	0.84[CEU][hapmap]
rs4298514	0.87[CEU][hapmap]
rs4541958	0.87[CEU][hapmap]
rs4876774	0.80[CEU][hapmap]
rs4876775	0.80[CEU][hapmap]
rs4876777	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4876781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876784	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469718	0.84[CEU][hapmap]
rs7815972	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7818831	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840309	0.84[JPT][hapmap]
rs958381	0.87[CEU][hapmap]

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	chr8:119005000-119021200	Weak transcription	Gastric	stomach
5	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:119013000-119021800	Weak transcription	Lung	lung
8	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
11	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:119016200-119026000	Enhancers	Liver	Liver
14	chr8:119016600-119021200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:119016800-119023200	Enhancers	NHDF-Ad	bronchial
16	chr8:119017400-119021200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119017400-119021200	Weak transcription	Psoas Muscle	Psoas
18	chr8:119017600-119020200	Weak transcription	Placenta	Placenta
19	chr8:119017600-119020200	Enhancers	NHEK	skin
20	chr8:119017600-119021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:119017600-119021000	Weak transcription	HSMMtube	muscle
22	chr8:119017600-119021200	Weak transcription	Fetal Kidney	kidney
23	chr8:119017600-119021200	Weak transcription	Ovary	ovary
24	chr8:119017600-119021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:119017600-119021600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:119017600-119022800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:119017800-119020200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:119017800-119021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:119017800-119021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:119017800-119021200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:119017800-119021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:119017800-119021200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:119017800-119021200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:119017800-119021200	Weak transcription	Stomach Mucosa	stomach
35	chr8:119017800-119022800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:119017800-119022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:119018000-119020200	Weak transcription	Left Ventricle	heart
38	chr8:119018000-119020400	Weak transcription	Right Ventricle	heart
39	chr8:119018000-119020600	Weak transcription	Right Atrium	heart
40	chr8:119018000-119020800	Weak transcription	Fetal Lung	lung
41	chr8:119018000-119021200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:119018000-119021200	Weak transcription	Fetal Intestine Small	intestine
43	chr8:119018000-119021200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:119018000-119021200	Weak transcription	Pancreas	Pancrea
45	chr8:119018000-119021600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:119018000-119033200	Weak transcription	Spleen	Spleen
47	chr8:119018200-119020000	Weak transcription	Fetal Heart	heart
48	chr8:119018200-119021200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:119018200-119021200	Weak transcription	Fetal Stomach	stomach
50	chr8:119018200-119023000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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