Variant report

Variant	rs59612995
Chromosome Location	chr11:119535385-119535386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119533700..119535949-chr19:35605499..35607605,2	MCF-7	breast:
2	chr11:119533436..119537247-chr11:119598827..119601563,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089356	Chromatin interaction
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11217375	0.81[ASN][1000 genomes]
rs59681945	1.00[ASN][1000 genomes]
rs60405761	1.00[ASN][1000 genomes]
rs9651690	0.81[ASN][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	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
2	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:119529600-119535800	Weak transcription	HMEC	breast
4	chr11:119529800-119536200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:119530200-119546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:119530400-119541600	Weak transcription	Small Intestine	intestine
7	chr11:119530600-119536800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:119531000-119536200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:119531000-119542000	Weak transcription	Colonic Mucosa	Colon
10	chr11:119531200-119541800	Weak transcription	Fetal Heart	heart
11	chr11:119531400-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:119531600-119536200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:119531800-119536600	Strong transcription	Esophagus	oesophagus
14	chr11:119531800-119539800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:119532000-119536200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:119532400-119541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:119532400-119544400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:119532800-119541800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:119533000-119535400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:119533000-119542000	Weak transcription	Right Atrium	heart
21	chr11:119533000-119543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:119533200-119535400	Enhancers	Brain Angular Gyrus	brain
23	chr11:119533200-119535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:119533200-119537600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:119533800-119535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:119533800-119535800	Genic enhancers	Fetal Intestine Small	intestine
27	chr11:119533800-119536400	Enhancers	Pancreas	Pancrea
28	chr11:119534000-119535600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:119534000-119535800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:119534200-119535400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:119534200-119536000	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:119534200-119536000	Strong transcription	Spleen	Spleen
33	chr11:119534200-119536200	Strong transcription	NHEK	skin
34	chr11:119534200-119538400	Genic enhancers	Fetal Stomach	stomach
35	chr11:119534400-119535400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:119534400-119535400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:119534600-119537200	Strong transcription	Right Ventricle	heart
38	chr11:119534600-119538200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr11:119534600-119538800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:119534800-119538400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:119534800-119541400	Weak transcription	Fetal Lung	lung
42	chr11:119534800-119542600	Weak transcription	Fetal Kidney	kidney
43	chr11:119535000-119536000	Weak transcription	Fetal Brain Female	brain
44	chr11:119535000-119536800	Genic enhancers	Placenta	Placenta
45	chr11:119535000-119537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:119535000-119542000	Weak transcription	Fetal Thymus	thymus
47	chr11:119535000-119542400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:119535200-119535800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:119535200-119536000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:119535200-119536000	ZNF genes & repeats	Fetal Intestine Large	intestine

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