Variant report

Variant	rs11217394
Chromosome Location	chr11:119554631-119554632
allele	A/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	chr11:119553834..119555975-chr11:119568134..119570409,2	MCF-7	breast:
2	chr11:119550130..119552665-chr11:119553614..119555801,3	MCF-7	breast:
3	chr11:118787594..118789225-chr11:119553658..119555336,2	MCF-7	breast:
4	chr11:119553949..119556596-chr11:119559313..119561537,3	MCF-7	breast:
5	chr11:119546104..119548755-chr11:119553432..119556397,3	MCF-7	breast:
6	chr11:119527766..119529930-chr11:119552583..119555005,2	MCF-7	breast:
7	chr11:119554561..119556794-chr11:119570560..119572885,2	MCF-7	breast:
8	chr11:119550355..119557178-chr11:119597809..119601667,9	MCF-7	breast:
9	chr11:119548530..119557660-chr11:119596856..119602607,12	MCF-7	breast:
10	chr11:119554400..119557288-chr11:119589688..119591871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10892430	1.00[ASN][1000 genomes]
rs10892431	1.00[ASN][1000 genomes]
rs10892432	1.00[ASN][1000 genomes]
rs11217386	1.00[ASN][1000 genomes]
rs11217389	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217395	1.00[AFR][1000 genomes]
rs11217396	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217398	1.00[ASN][1000 genomes]
rs11217399	1.00[ASN][1000 genomes]
rs11217400	1.00[ASN][1000 genomes]
rs11217401	1.00[ASN][1000 genomes]
rs11217402	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217403	1.00[ASN][1000 genomes]
rs11217406	1.00[ASN][1000 genomes]
rs11217407	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217409	1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs12222517	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12577411	1.00[AFR][1000 genomes]
rs12577412	1.00[AFR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs57088022	1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs60865388	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119547800-119554800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:119547800-119555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:119548000-119555000	Weak transcription	Osteobl	bone
4	chr11:119549000-119554800	Weak transcription	NHLF	lung
5	chr11:119549000-119555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:119549200-119554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:119549400-119554800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:119549400-119554800	Weak transcription	Fetal Intestine Large	intestine
9	chr11:119549400-119555000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:119549400-119555200	Weak transcription	Fetal Brain Female	brain
11	chr11:119549400-119558200	Weak transcription	Ovary	ovary
12	chr11:119549600-119554800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:119549600-119554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:119549600-119554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:119549600-119555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:119549600-119555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:119549800-119554800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:119550000-119555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:119550000-119555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:119550000-119556200	Enhancers	Placenta	Placenta
21	chr11:119550200-119557200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
23	chr11:119550400-119554800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:119550600-119555200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:119550800-119559400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:119551200-119554800	Enhancers	HMEC	breast
27	chr11:119551200-119555800	Enhancers	Left Ventricle	heart
28	chr11:119551200-119556000	Enhancers	Brain Hippocampus Middle	brain
29	chr11:119551200-119558200	Enhancers	Pancreas	Pancrea
30	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:119551800-119554800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:119551800-119554800	Weak transcription	HSMM	muscle
33	chr11:119552000-119554800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:119552000-119556600	Weak transcription	Liver	Liver
35	chr11:119552000-119560000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:119552200-119554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:119552200-119554800	Weak transcription	Fetal Stomach	stomach
38	chr11:119552200-119555200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:119552200-119555200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:119552200-119555600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:119552200-119557000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:119552200-119557400	Weak transcription	Primary B cells from cord blood	blood
43	chr11:119552400-119554800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:119552400-119554800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:119552400-119554800	Weak transcription	Small Intestine	intestine
46	chr11:119552600-119555600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:119552600-119558000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:119553000-119554800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:119553400-119555600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:119553600-119554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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