Variant report

Variant	rs12056700
Chromosome Location	chr8:61644077-61644078
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	chr8:61643627..61644403-chr8:61675024..61675709,2	MCF-7	breast:
2	chr8:61643620..61644210-chr8:61935831..61936694,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088263	0.82[ASN][1000 genomes]
rs1038353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957159	0.88[ASN][1000 genomes]
rs10957160	0.88[ASN][1000 genomes]
rs11775560	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13255052	0.91[ASN][1000 genomes]
rs13256023	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13278198	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326597	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34022185	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34345692	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149496	0.93[ASN][1000 genomes]
rs35254359	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35914442	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737563	0.83[YRI][hapmap]
rs6471897	0.86[YRI][hapmap]
rs6471898	0.85[YRI][hapmap]
rs6471900	0.91[ASN][1000 genomes]
rs6987611	0.86[ASN][1000 genomes]
rs6988835	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6989150	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6994642	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7460516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823926	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7833957	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842498	0.83[YRI][hapmap]
rs7846314	0.98[ASN][1000 genomes]
rs9298041	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv6219	chr8:61599770-61644558	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61615600-61644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61621200-61646400	Weak transcription	Fetal Brain Male	brain
3	chr8:61627800-61644400	Weak transcription	Fetal Kidney	kidney
4	chr8:61634800-61647000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:61635000-61654200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:61636800-61644400	Weak transcription	Fetal Brain Female	brain
7	chr8:61636800-61644400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:61637000-61644200	Weak transcription	Brain Germinal Matrix	brain
9	chr8:61637000-61648600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:61637000-61648600	Weak transcription	HSMM	muscle
11	chr8:61637000-61651200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
13	chr8:61637600-61644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:61637800-61644400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:61637800-61647600	Weak transcription	K562	blood
16	chr8:61638000-61644400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:61638400-61645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:61638400-61648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:61638600-61644200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:61638600-61644400	Weak transcription	Right Atrium	heart
21	chr8:61638600-61644800	Weak transcription	Lung	lung
22	chr8:61638600-61644800	Weak transcription	Pancreas	Pancrea
23	chr8:61638600-61648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:61638600-61648400	Weak transcription	Gastric	stomach
25	chr8:61638600-61648400	Weak transcription	Stomach Mucosa	stomach
26	chr8:61638600-61648600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:61638600-61651200	Weak transcription	Right Ventricle	heart
28	chr8:61638600-61654000	Weak transcription	NHEK	skin
29	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:61639000-61644800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:61639400-61644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:61639400-61644800	Weak transcription	Psoas Muscle	Psoas
33	chr8:61639400-61646800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:61639400-61647200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:61639400-61647800	Weak transcription	GM12878-XiMat	blood
36	chr8:61639400-61648400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:61640000-61644200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:61640200-61644800	Weak transcription	Small Intestine	intestine
39	chr8:61640400-61644400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:61640800-61644400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:61640800-61644400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:61640800-61644400	Weak transcription	Fetal Heart	heart
43	chr8:61641200-61646000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:61642000-61644600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:61642400-61644400	Weak transcription	Fetal Lung	lung
46	chr8:61642400-61649400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:61642600-61644200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:61643400-61645000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:61643400-61645200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:61643400-61646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links