Variant report

Variant	rs4752829
Chromosome Location	chr11:47396654-47396655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
2	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
3	chr11:47395793..47399291-chr11:47428329..47431622,5	MCF-7	breast:
4	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
5	chr11:47392669..47398633-chr11:47427643..47432695,11	MCF-7	breast:
6	chr11:47387142..47389987-chr11:47393961..47396732,2	K562	blood:

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1044269	0.88[JPT][hapmap]
rs10742805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10742806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769267	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11819955	0.86[JPT][hapmap]
rs11820650	0.82[ASN][1000 genomes]
rs11820680	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11821917	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11824864	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11827106	0.88[ASN][1000 genomes]
rs11828339	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12282783	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12419342	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198158	0.88[JPT][hapmap]
rs17790804	0.88[JPT][hapmap]
rs2242511	0.88[JPT][hapmap]
rs3740684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3740685	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3824867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3847503	0.88[JPT][hapmap]
rs4237544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4282946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752783	0.88[JPT][hapmap]
rs4752836	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752839	0.82[JPT][hapmap]
rs4752843	0.88[JPT][hapmap]
rs4752992	0.81[ASN][1000 genomes]
rs56756748	0.88[ASN][1000 genomes]
rs60380053	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61000762	0.81[ASN][1000 genomes]
rs7101772	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7104366	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7105122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107853	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7108143	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7111873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117277	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7119556	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7130693	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs753812	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7948705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9666924	0.88[JPT][hapmap]
rs9734013	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9919526	0.89[EUR][1000 genomes];0.89[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
6	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:47380400-47397000	Weak transcription	Lung	lung
9	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:47393200-47399600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:47394200-47397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:47395200-47396800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:47395200-47397400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
16	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
17	chr11:47395200-47410000	Weak transcription	Gastric	stomach
18	chr11:47395400-47397200	Genic enhancers	Spleen	Spleen
19	chr11:47395400-47397800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:47395400-47397800	Enhancers	K562	blood
21	chr11:47395400-47398000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
22	chr11:47395600-47396800	Enhancers	HMEC	breast
23	chr11:47395600-47397600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:47395600-47397800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
25	chr11:47395600-47397800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:47395600-47398400	Weak transcription	Fetal Stomach	stomach
27	chr11:47395600-47399200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:47395800-47397000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
29	chr11:47395800-47397600	Weak transcription	Liver	Liver
30	chr11:47395800-47397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:47395800-47397800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:47395800-47398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:47396000-47397400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:47396000-47398400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:47396000-47398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:47396200-47397800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:47396200-47398800	Weak transcription	Thymus	Thymus
38	chr11:47396200-47399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:47396200-47399600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:47396400-47397200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:47396400-47397400	Enhancers	GM12878-XiMat	blood
42	chr11:47396400-47397600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:47396400-47397800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:47396400-47397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:47396400-47398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:47396400-47398000	Weak transcription	A549	lung
47	chr11:47396400-47398200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:47396400-47398200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:47396400-47398400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:47396400-47398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links