Variant report

Variant	rs11601200
Chromosome Location	chr11:47395209-47395210
allele	A/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47387142..47389249-chr11:47393503..47395461,2	K562	blood:
2	chr11:47291173..47293615-chr11:47393614..47395294,2	K562	blood:
3	chr11:47395142..47396081-chr11:47429255..47430261,8	K562	blood:
4	chr11:47195854..47197840-chr11:47393831..47395541,2	K562	blood:
5	chr11:47393959..47396098-chr11:47398578..47401487,2	K562	blood:
6	chr11:47395159..47396012-chr11:47433753..47434329,3	MCF-7	breast:
7	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:
8	chr11:47394123..47395677-chr11:47474242..47477201,2	MCF-7	breast:
9	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
10	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
11	chr11:47395201..47395975-chr11:47638731..47639268,2	MCF-7	breast:
12	chr11:47395073..47396141-chr11:47475486..47476579,4	MCF-7	breast:
13	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
14	chr11:47392669..47398633-chr11:47427643..47432695,11	MCF-7	breast:
15	chr11:47395197..47396374-chr11:47429246..47430603,8	MCF-7	breast:
16	chr11:47387142..47389987-chr11:47393961..47396732,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11537751	1.00[AMR][1000 genomes]
rs11601083	0.82[AMR][1000 genomes]
rs11601934	0.91[AMR][1000 genomes]
rs11602333	0.91[AMR][1000 genomes]
rs11602837	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11603587	0.91[AMR][1000 genomes]
rs11603911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11604233	0.91[AMR][1000 genomes]
rs11605061	1.00[AMR][1000 genomes]
rs11607518	1.00[AMR][1000 genomes]
rs11607855	0.91[AMR][1000 genomes]
rs34603363	0.91[AMR][1000 genomes]
rs36016346	1.00[AMR][1000 genomes]
rs7945021	0.91[AMR][1000 genomes]
rs9089	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv275512	chr11:47393303-47395962	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

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	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:47380400-47397000	Weak transcription	Lung	lung
10	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:47391400-47395400	Weak transcription	Hela-S3	cervix
15	chr11:47391400-47395600	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:47391600-47395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:47391600-47396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:47391800-47395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:47391800-47395400	Weak transcription	K562	blood
20	chr11:47392600-47395400	Weak transcription	Adipose Nuclei	Adipose
21	chr11:47393200-47399600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:47393400-47395400	Strong transcription	Spleen	Spleen
23	chr11:47394200-47395400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:47394200-47397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:47394400-47395800	Genic enhancers	Primary B cells from cord blood	blood
26	chr11:47395000-47396600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:47395200-47395600	Enhancers	HepG2	liver
28	chr11:47395200-47395800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:47395200-47395800	Enhancers	Brain Hippocampus Middle	brain
30	chr11:47395200-47395800	Strong transcription	Fetal Intestine Small	intestine
31	chr11:47395200-47395800	Genic enhancers	GM12878-XiMat	blood
32	chr11:47395200-47396000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:47395200-47396200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:47395200-47396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:47395200-47396400	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:47395200-47396600	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:47395200-47396800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:47395200-47397400	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
40	chr11:47395200-47398000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
41	chr11:47395200-47410000	Weak transcription	Gastric	stomach

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