Variant report

Variant	rs4394851
Chromosome Location	chr11:119566971-119566972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119565895..119567556-chr11:119593844..119596406,2	MCF-7	breast:
2	chr11:119551416..119553458-chr11:119566192..119569088,2	MCF-7	breast:
3	chr11:119561073..119563172-chr11:119565321..119568250,2	K562	blood:
4	chr11:119558592..119561187-chr11:119565214..119567507,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11217383	1.00[GIH][hapmap]
rs11217401	1.00[GIH][hapmap]
rs11217404	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217408	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862617	1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932236	1.00[GIH][hapmap]
rs7944565	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv468880	chr11:119564496-119588062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv556471	chr11:119564496-119588062	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
2	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:119555800-119568800	Weak transcription	Left Ventricle	heart
4	chr11:119556000-119568600	Weak transcription	Right Atrium	heart
5	chr11:119556000-119571600	Weak transcription	NHLF	lung
6	chr11:119559000-119567200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:119559800-119570200	Enhancers	Fetal Thymus	thymus
8	chr11:119560400-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:119560400-119569600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
11	chr11:119561200-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:119561400-119568800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:119561800-119568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:119561800-119568800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:119561800-119577600	Enhancers	Brain Hippocampus Middle	brain
16	chr11:119562000-119568600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:119562000-119578400	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:119562400-119571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:119562400-119571000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:119563000-119567400	Weak transcription	Right Ventricle	heart
21	chr11:119563000-119568600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:119563200-119567000	Enhancers	HMEC	breast
23	chr11:119563200-119578400	Genic enhancers	Fetal Intestine Small	intestine
24	chr11:119563400-119568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:119563600-119574000	Enhancers	Placenta	Placenta
26	chr11:119564000-119567600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:119564200-119578400	Enhancers	Fetal Intestine Large	intestine
28	chr11:119564600-119567000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:119564800-119567000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:119564800-119567800	Enhancers	Colonic Mucosa	Colon
31	chr11:119564800-119567800	Enhancers	HepG2	liver
32	chr11:119564800-119571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:119565000-119567000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:119565000-119568400	Weak transcription	Lung	lung
35	chr11:119565000-119569400	Weak transcription	Fetal Brain Female	brain
36	chr11:119565200-119567200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:119565200-119567800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:119565200-119582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:119565400-119567200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:119565400-119568200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:119565400-119569400	Weak transcription	Brain Germinal Matrix	brain
42	chr11:119565400-119571400	Weak transcription	NH-A	brain
43	chr11:119565400-119571600	Weak transcription	Primary B cells from cord blood	blood
44	chr11:119565600-119567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:119565600-119567000	Weak transcription	Thymus	Thymus
46	chr11:119565600-119567200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:119565600-119567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:119565600-119567800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:119565800-119567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:119565800-119567000	Weak transcription	Spleen	Spleen

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