Variant report

Variant	rs4505073
Chromosome Location	chr11:119613788-119613789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119611511..119614247-chr11:119631604..119633429,2	MCF-7	breast:
2	chr11:119612432..119615293-chr2:70313000..70315605,2	K562	blood:

Variant related genes	Relation type
ENSG00000169564	Chromatin interaction
ENSG00000179818	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10790339	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10892444	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10892445	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10892446	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217426	0.81[CEU][hapmap]
rs11217429	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11217434	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11217437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11217438	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11217440	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217441	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11217442	0.86[EUR][1000 genomes]
rs11217448	0.87[EUR][1000 genomes]
rs11607610	0.80[EUR][1000 genomes]
rs12418662	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs12421434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12421466	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12786505	0.85[EUR][1000 genomes]
rs12793075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12796806	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12797914	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12800445	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876795	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2136420	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136421	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2368936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35248712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3829260	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245206	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4489755	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4936496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938719	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938720	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58136657	0.86[EUR][1000 genomes]
rs6589770	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73006720	0.86[EUR][1000 genomes]
rs7952366	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs9666263	0.82[CEU][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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3357144	chr11:119610642-119614840	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119610400-119614400	Enhancers	Gastric	stomach
2	chr11:119611200-119614400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr11:119611600-119614400	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr11:119612000-119613800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr11:119612200-119614200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:119612200-119614200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:119612200-119614200	Enhancers	Fetal Heart	heart
8	chr11:119612400-119613800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:119612400-119613800	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr11:119612400-119614000	Flanking Active TSS	Fetal Brain Female	brain
11	chr11:119612600-119613800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:119612800-119614000	Enhancers	Brain Substantia Nigra	brain
13	chr11:119613000-119613800	Active TSS	Fetal Kidney	kidney
14	chr11:119613000-119613800	Bivalent Enhancer	Spleen	Spleen
15	chr11:119613000-119614000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:119613000-119614000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr11:119613000-119614600	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:119613200-119613800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:119613200-119613800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
22	chr11:119613200-119613800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
25	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
26	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr11:119613200-119613800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr11:119613200-119614400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr11:119613400-119613800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr11:119613400-119613800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr11:119613400-119613800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr11:119613400-119613800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr11:119613400-119613800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:119613400-119613800	Bivalent Enhancer	Placenta	Placenta
37	chr11:119613400-119613800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr11:119613400-119614000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
39	chr11:119613400-119614000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr11:119613400-119614400	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr11:119613600-119613800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:119613600-119613800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:119613600-119613800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:119613600-119613800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:119613600-119613800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:119613600-119613800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:119613600-119613800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr11:119613600-119613800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr11:119613600-119613800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:119613600-119613800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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