Variant report

Variant	rs56240803
Chromosome Location	chr11:66092565-66092566
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
2	chr11:66091883..66093491-chr11:66094338..66095923,2	MCF-7	breast:
3	chr11:66083687..66088090-chr11:66090957..66094133,5	K562	blood:
4	chr11:66079702..66081226-chr11:66092137..66094285,2	MCF-7	breast:
5	chr11:66054004..66059089-chr11:66088488..66094920,9	MCF-7	breast:
6	chr11:66052087..66053610-chr11:66091121..66094110,2	MCF-7	breast:
7	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
8	chr11:66055159..66056762-chr11:66090994..66093285,2	K562	blood:
9	chr11:66089326..66092230-chr11:66092519..66097068,6	K562	blood:
10	chr11:66092528..66094950-chr11:66110471..66113392,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174807	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11537930	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1190621	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1190622	0.89[EUR][1000 genomes]
rs1190623	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1212135	0.94[EUR][1000 genomes]
rs2016960	0.95[EUR][1000 genomes]
rs3016311	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3016316	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3016317	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3814740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57004348	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58221849	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59651473	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7950463	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs948360	0.95[EUR][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv3339891	chr11:66088976-66093674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56240803	RP11-867G23.12	cis	Whole Blood	GTEx
rs56240803	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:66086400-66092600	Weak transcription	Colonic Mucosa	Colon
4	chr11:66086600-66092600	Weak transcription	Right Ventricle	heart
5	chr11:66086600-66093600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:66086800-66093200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:66086800-66093600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:66086800-66093600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:66087200-66093400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:66089000-66093400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:66089000-66094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:66089000-66094800	Enhancers	NHDF-Ad	bronchial
14	chr11:66089000-66095000	Enhancers	Adipose Nuclei	Adipose
15	chr11:66089200-66094200	Enhancers	Osteobl	bone
16	chr11:66089200-66097600	Enhancers	NHLF	lung
17	chr11:66089600-66093000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:66089600-66093600	Weak transcription	Psoas Muscle	Psoas
19	chr11:66089600-66093600	Weak transcription	Right Atrium	heart
20	chr11:66089800-66092600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:66090000-66093600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:66090200-66092600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:66090200-66092600	Weak transcription	Thymus	Thymus
24	chr11:66090200-66092800	Weak transcription	Primary T cells from cord blood	blood
25	chr11:66090600-66094800	Weak transcription	K562	blood
26	chr11:66090600-66095000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:66090600-66096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:66091200-66092800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:66091400-66096600	Enhancers	Placenta	Placenta
30	chr11:66091600-66093000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:66091600-66095200	Enhancers	Spleen	Spleen
32	chr11:66091600-66096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:66091600-66096600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:66091800-66092600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:66091800-66093600	Enhancers	Fetal Thymus	thymus
36	chr11:66091800-66094200	Enhancers	HSMM	muscle
37	chr11:66091800-66094800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:66091800-66094800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:66091800-66094800	Enhancers	HSMMtube	muscle
40	chr11:66091800-66095000	Enhancers	Fetal Lung	lung
41	chr11:66091800-66095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:66091800-66095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:66091800-66096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:66091800-66096000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:66091800-66096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:66091800-66096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:66091800-66096600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:66091800-66096600	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:66091800-66096600	Enhancers	Fetal Stomach	stomach
50	chr11:66091800-66096600	Enhancers	NH-A	brain

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