Variant report

Variant	rs2868447
Chromosome Location	chr11:47391174-47391175
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	chr11:47390841..47393581-chr11:47397116..47400439,3	K562	blood:

Variant related genes	Relation type
ENSG00000066336	Chromatin interaction

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

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

rs_ID	r²[population]
rs1017594	1.00[AFR][1000 genomes]
rs10466401	1.00[AFR][1000 genomes]
rs10742808	1.00[AFR][1000 genomes]
rs10769261	1.00[AFR][1000 genomes]
rs10769269	1.00[AFR][1000 genomes]
rs10838701	1.00[AFR][1000 genomes]
rs11039196	1.00[AFR][1000 genomes]
rs11039228	1.00[AFR][1000 genomes]
rs11602132	1.00[AFR][1000 genomes]
rs2020057	1.00[AFR][1000 genomes]
rs2084541	1.00[AFR][1000 genomes]
rs2868603	1.00[AFR][1000 genomes]
rs4519056	1.00[AFR][1000 genomes]
rs4752826	1.00[AFR][1000 genomes]
rs4752831	1.00[AFR][1000 genomes]
rs4752841	1.00[AFR][1000 genomes]
rs4752982	1.00[AFR][1000 genomes]
rs4752985	1.00[AFR][1000 genomes]
rs4752989	1.00[AFR][1000 genomes]
rs4752991	1.00[AFR][1000 genomes]
rs4752995	1.00[AFR][1000 genomes]
rs6485754	1.00[AFR][1000 genomes]
rs7105005	1.00[AFR][1000 genomes]
rs7119799	1.00[AFR][1000 genomes]
rs7932148	1.00[AFR][1000 genomes]
rs7934846	1.00[AFR][1000 genomes]
rs7951044	1.00[AFR][1000 genomes]
rs963331	1.00[AFR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
2	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
8	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
11	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:47380400-47397000	Weak transcription	Lung	lung
13	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:47382000-47395200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:47382200-47395200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:47383600-47391400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:47386000-47395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:47386000-47395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:47386200-47394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:47386600-47393400	Weak transcription	Spleen	Spleen
23	chr11:47386800-47395200	Weak transcription	HepG2	liver
24	chr11:47388200-47393400	Weak transcription	GM12878-XiMat	blood
25	chr11:47388400-47395200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:47389000-47391400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:47389800-47394400	Strong transcription	Primary B cells from cord blood	blood
28	chr11:47390200-47391200	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:47390200-47391400	Enhancers	Hela-S3	cervix
30	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:47390600-47391800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:47390800-47391400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47390800-47391600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:47390800-47391600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:47390800-47391800	Enhancers	K562	blood
36	chr11:47391000-47395200	Weak transcription	Primary hematopoietic stem cells	blood

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