Variant report

Variant	rs9886
Chromosome Location	chr11:71949665-71949666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71949479..71951633-chr11:72139393..72142208,2	K562	blood:
2	chr11:71822963..71824981-chr11:71949478..71951249,2	K562	blood:
3	chr11:71894266..71895107-chr11:71949011..71949837,3	MCF-7	breast:
4	chr11:71736273..71736838-chr11:71948885..71950174,5	K562	blood:
5	chr11:71812888..71815663-chr11:71949421..71951331,2	MCF-7	breast:
6	chr11:71948375..71952014-chr11:71952052..71958381,8	MCF-7	breast:
7	chr11:71734617..71736774-chr11:71947539..71949807,2	MCF-7	breast:
8	chr11:71713190..71714745-chr11:71948791..71950410,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165462	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11548491	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416741	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12418533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1783632	0.83[ASN][1000 genomes]
rs1784257	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2276046	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2508201	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2508861	0.83[ASN][1000 genomes]
rs2508865	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2508866	0.83[ASN][1000 genomes]
rs3900852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs472837	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs477354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs487288	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs506041	0.83[ASN][1000 genomes]
rs527905	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55723921	0.83[ASN][1000 genomes]
rs56229279	0.83[ASN][1000 genomes]
rs56333926	0.83[ASN][1000 genomes]
rs57614093	0.81[ASN][1000 genomes]
rs58489620	0.83[ASN][1000 genomes]
rs590732	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs59427981	0.83[ASN][1000 genomes]
rs59509230	0.85[ASN][1000 genomes]
rs59612321	0.81[ASN][1000 genomes]
rs59980097	0.85[ASN][1000 genomes]
rs61736312	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650834	0.81[ASN][1000 genomes]
rs70940824	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108974	0.83[ASN][1000 genomes]
rs7110260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116854	0.81[ASN][1000 genomes]
rs7130652	0.81[ASN][1000 genomes]
rs73528886	0.81[ASN][1000 genomes]
rs73528892	0.83[ASN][1000 genomes]
rs7952074	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv555404	chr11:71944242-71949952	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv555405	chr11:71944667-71952345	Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
4	chr11:71937400-71950000	Strong transcription	NHLF	lung
5	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:71938400-71950000	Strong transcription	NHEK	skin
7	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:71939400-71949800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:71939400-71949800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:71939400-71949800	Strong transcription	Primary T cells from cord blood	blood
12	chr11:71939400-71949800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr11:71939600-71949800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:71939800-71949800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:71939800-71949800	Strong transcription	HSMMtube	muscle
16	chr11:71943000-71950400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:71945200-71949800	Strong transcription	GM12878-XiMat	blood
18	chr11:71945600-71949800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:71946000-71949800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr11:71946000-71949800	Strong transcription	HUVEC	blood vessel
21	chr11:71946400-71949800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:71946400-71954200	Weak transcription	K562	blood
23	chr11:71946600-71949800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:71946600-71950400	Weak transcription	HepG2	liver
25	chr11:71947000-71950200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:71947200-71950000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:71947200-71950200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:71948000-71950600	Weak transcription	HMEC	breast
29	chr11:71948200-71950200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:71948200-71950400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:71948400-71950200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:71948400-71950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:71948600-71949800	Enhancers	Fetal Heart	heart
34	chr11:71948600-71950000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:71948600-71950000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:71948600-71950200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:71948600-71950400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:71948600-71950600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:71948800-71949800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
40	chr11:71948800-71949800	Genic enhancers	Placenta	Placenta
41	chr11:71948800-71949800	Genic enhancers	Right Ventricle	heart
42	chr11:71948800-71949800	Genic enhancers	Spleen	Spleen
43	chr11:71948800-71950000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:71948800-71950000	Genic enhancers	A549	lung
45	chr11:71948800-71950600	Weak transcription	Aorta	Aorta
46	chr11:71948800-71950600	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:71949000-71949800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:71949000-71950000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:71949000-71950000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:71949000-71950000	Weak transcription	Brain Anterior Caudate	brain

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