Variant report

Variant	rs56756748
Chromosome Location	chr11:47392568-47392569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47380338..47382124-chr11:47391375..47394972,3	K562	blood:
2	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
3	chr11:47390841..47393581-chr11:47397116..47400439,3	K562	blood:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1044269	0.80[ASN][1000 genomes]
rs11039194	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11820650	0.91[ASN][1000 genomes]
rs11821917	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11824864	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11827106	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11828339	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198158	0.83[ASN][1000 genomes]
rs17790804	0.88[ASN][1000 genomes]
rs2242511	0.88[ASN][1000 genomes]
rs3781628	0.88[ASN][1000 genomes]
rs3847503	0.85[ASN][1000 genomes]
rs4384349	0.81[ASN][1000 genomes]
rs4752829	0.88[ASN][1000 genomes]
rs4752992	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60882887	0.84[ASN][1000 genomes]
rs61000762	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7101772	0.80[ASN][1000 genomes]
rs7105122	0.80[ASN][1000 genomes]
rs7105907	0.80[ASN][1000 genomes]
rs753812	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7948705	0.80[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:34 , 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	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
7	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:47380400-47397000	Weak transcription	Lung	lung
12	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:47382000-47395200	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:47382200-47395200	Weak transcription	Fetal Intestine Small	intestine
16	chr11:47386000-47395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47386000-47395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:47386200-47394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:47386600-47393400	Weak transcription	Spleen	Spleen
21	chr11:47386800-47395200	Weak transcription	HepG2	liver
22	chr11:47388200-47393400	Weak transcription	GM12878-XiMat	blood
23	chr11:47388400-47395200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:47389800-47394400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47391000-47395200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:47391400-47395400	Weak transcription	Hela-S3	cervix
28	chr11:47391400-47395600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:47391600-47394200	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:47391600-47395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:47391600-47396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47391800-47395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:47391800-47395400	Weak transcription	K562	blood
34	chr11:47392000-47393400	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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