Variant report

Variant	rs6986291
Chromosome Location	chr8:119018957-119018958
allele	C/T
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:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11562735	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11562770	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775987	0.87[EUR][1000 genomes]
rs13255959	0.96[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13260360	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13267449	0.96[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17431131	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4876779	0.85[EUR][1000 genomes]
rs4876785	0.96[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7006696	0.96[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7830231	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297573	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9643119	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9650072	0.80[AMR][1000 genomes];0.89[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:79 , 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	chr8:119016200-119019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:119016200-119019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:119016200-119019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:119016200-119026000	Enhancers	Liver	Liver
17	chr8:119016400-119019000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:119016400-119019200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:119016600-119019000	Enhancers	HepG2	liver
20	chr8:119016600-119021200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:119016800-119023200	Enhancers	NHDF-Ad	bronchial
22	chr8:119017000-119019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119017400-119019000	Enhancers	A549	lung
24	chr8:119017400-119021200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:119017400-119021200	Weak transcription	Psoas Muscle	Psoas
26	chr8:119017600-119019000	Enhancers	Osteobl	bone
27	chr8:119017600-119020200	Weak transcription	Placenta	Placenta
28	chr8:119017600-119020200	Enhancers	NHEK	skin
29	chr8:119017600-119021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:119017600-119021000	Weak transcription	HSMMtube	muscle
31	chr8:119017600-119021200	Weak transcription	Fetal Kidney	kidney
32	chr8:119017600-119021200	Weak transcription	Ovary	ovary
33	chr8:119017600-119021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:119017600-119021600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:119017600-119022800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:119017800-119019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:119017800-119019600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:119017800-119020200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:119017800-119021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:119017800-119021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:119017800-119021200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:119017800-119021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:119017800-119021200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:119017800-119021200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:119017800-119021200	Weak transcription	Stomach Mucosa	stomach
46	chr8:119017800-119022800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:119017800-119022800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:119018000-119019200	Enhancers	HUVEC	blood vessel
49	chr8:119018000-119019600	Weak transcription	HSMM	muscle
50	chr8:119018000-119020200	Weak transcription	Left Ventricle	heart

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