Variant report

Variant	rs618291
Chromosome Location	chr11:100681211-100681212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100558223..100560082-chr11:100680729..100682747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165895	Chromatin interaction
ENSG00000248027	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs509944	0.89[ASN][1000 genomes]
rs528494	0.85[ASN][1000 genomes]
rs556146	0.93[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs586495	0.89[ASN][1000 genomes]
rs622675	0.86[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs650867	0.88[ASN][1000 genomes]
rs678681	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs618291	TMEM133	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100660400-100683600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:100667200-100685200	Weak transcription	Primary B cells from cord blood	blood
4	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
5	chr11:100673600-100687600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:100678200-100681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100679400-100681400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:100679400-100682000	Enhancers	NHEK	skin
9	chr11:100679600-100681400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:100679600-100681400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:100679600-100681400	Enhancers	HMEC	breast
12	chr11:100679600-100681400	Enhancers	HSMM	muscle
13	chr11:100679600-100681600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:100679600-100681600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:100679600-100681600	Enhancers	Osteobl	bone
16	chr11:100679600-100681800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:100679600-100682200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:100679600-100682200	Enhancers	A549	lung
19	chr11:100680000-100681800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:100680000-100684000	Weak transcription	Fetal Intestine Large	intestine
21	chr11:100680200-100683400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:100680200-100683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:100680200-100684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:100680200-100686200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:100680400-100683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:100680400-100687400	Weak transcription	Fetal Heart	heart
27	chr11:100680600-100683400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:100680600-100683400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:100680600-100683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:100680600-100687400	Weak transcription	Left Ventricle	heart
31	chr11:100680600-100689000	Weak transcription	Psoas Muscle	Psoas
32	chr11:100680600-100691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:100680800-100681600	Enhancers	NHDF-Ad	bronchial
34	chr11:100680800-100687400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:100681000-100681400	Flanking Active TSS	NH-A	brain
37	chr11:100681000-100685800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:100681200-100682600	Weak transcription	Fetal Intestine Small	intestine
39	chr11:100681200-100684200	Enhancers	Liver	Liver
40	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links