Variant report

Variant	rs1642958
Chromosome Location	chr11:65821973-65821974
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65821849-65822035	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:65821919-65822035	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:65821968-65822322	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:65821921-65822340	GM12878	blood:	n/a	n/a
5	CEBPB	chr11:65821931-65821981	K562	blood:	n/a	n/a
6	POLR2A	chr11:65821954-65822365	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
2	chr11:65815354..65817680-chr11:65821630..65823726,2	K562	blood:
3	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
4	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
5	chr11:65429132..65431872-chr11:65817636..65822281,4	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175376	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11227384	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1151530	0.82[AMR][1000 genomes]
rs1783563	0.91[ASN][1000 genomes]
rs2241303	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2430978	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2576	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2845570	0.82[ASN][1000 genomes]
rs484983	0.81[AMR][1000 genomes]
rs4930170	0.96[ASN][1000 genomes]
rs493320	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs527962	0.81[AMR][1000 genomes]
rs537497	0.82[AMR][1000 genomes]
rs539046	0.92[AMR][1000 genomes]
rs570760	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs571374	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574335	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs576740	0.83[AMR][1000 genomes]
rs576836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577013	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72932627	0.94[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
4	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
5	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	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
7	nsv897770	chr11:65803750-65824472	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65820800-65822200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr11:65820800-65822200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:65820800-65822600	Weak transcription	Aorta	Aorta
4	chr11:65820800-65827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:65821000-65822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65821000-65822000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65821000-65822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:65821000-65822000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:65821000-65822000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:65821000-65822000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:65821000-65822000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:65821000-65822000	Weak transcription	Esophagus	oesophagus
13	chr11:65821000-65822000	Weak transcription	Gastric	stomach
14	chr11:65821000-65822000	Weak transcription	Left Ventricle	heart
15	chr11:65821000-65822000	Weak transcription	Pancreas	Pancrea
16	chr11:65821000-65822000	Weak transcription	Right Ventricle	heart
17	chr11:65821000-65822000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:65821000-65822000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:65821000-65822200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:65821000-65822200	Weak transcription	Fetal Kidney	kidney
21	chr11:65821000-65822200	Weak transcription	Small Intestine	intestine
22	chr11:65821000-65822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:65821000-65823200	Genic enhancers	Liver	Liver
24	chr11:65821000-65825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
26	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:65821200-65822000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:65821200-65822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:65821200-65822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:65821200-65822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:65821200-65822000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:65821200-65822000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:65821200-65822000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:65821200-65822000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:65821200-65822000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:65821200-65822000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:65821200-65822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:65821200-65822000	Weak transcription	Colonic Mucosa	Colon
40	chr11:65821200-65822000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:65821200-65822000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:65821200-65822000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:65821200-65822000	Weak transcription	Hela-S3	cervix
44	chr11:65821200-65822000	Weak transcription	HMEC	breast
45	chr11:65821200-65822000	Weak transcription	HSMM	muscle
46	chr11:65821200-65822000	Weak transcription	HSMMtube	muscle
47	chr11:65821200-65822000	Weak transcription	HUVEC	blood vessel
48	chr11:65821200-65822000	Weak transcription	NH-A	brain
49	chr11:65821200-65822000	Weak transcription	NHDF-Ad	bronchial
50	chr11:65821200-65822200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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