Variant report

Variant	rs1791683
Chromosome Location	chr11:66291560-66291561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66291040..66297271-chr11:66298915..66306467,9	K562	blood:
2	chr11:66286543..66288664-chr11:66289775..66291929,2	MCF-7	breast:
3	chr11:66290583..66293283-chr11:66311387..66313963,2	MCF-7	breast:
4	chr11:66290822..66293457-chr11:66382909..66385562,2	K562	blood:
5	chr11:66291383..66294424-chr11:66312298..66314719,3	K562	blood:

Variant related genes	Relation type
ENSG00000174165	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000269990	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10736656	0.81[EUR][1000 genomes]
rs10791881	0.85[ASN][1000 genomes]
rs1671065	0.81[EUR][1000 genomes]
rs1791686	0.81[EUR][1000 genomes]
rs1791687	0.83[ASN][1000 genomes]
rs8432	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1791683	CTD-3074O7.5	cis	Whole Blood	GTEx
rs1791683	ACTN3	cis	Muscle Skeletal	GTEx
rs1791683	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs1791683	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66294000	Weak transcription	Aorta	Aorta
3	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
4	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
6	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
9	chr11:66279200-66295400	Weak transcription	Fetal Kidney	kidney
10	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
11	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:66279400-66295000	Weak transcription	K562	blood
15	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
16	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
17	chr11:66279800-66305200	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:66280000-66292400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:66280400-66292000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:66280600-66291800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:66281000-66292000	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
23	chr11:66281400-66292200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
25	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:66285400-66291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:66285400-66292000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:66285400-66292600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:66285600-66292000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:66285600-66292000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:66285600-66292200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:66286000-66291600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:66286200-66292000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:66286200-66292000	Strong transcription	Fetal Intestine Large	intestine
35	chr11:66286200-66292200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:66286200-66292200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:66286200-66301000	Strong transcription	Placenta	Placenta
38	chr11:66286200-66301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:66286400-66291600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66286400-66291600	Strong transcription	Fetal Thymus	thymus
41	chr11:66286400-66291600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:66286400-66292000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:66286400-66292200	Strong transcription	Adipose Nuclei	Adipose
44	chr11:66286400-66292400	Strong transcription	Brain Germinal Matrix	brain
45	chr11:66286600-66291600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr11:66286600-66291800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:66286600-66292000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:66286600-66292000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:66286600-66292000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:66286600-66292200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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