Variant report

Variant	rs3136494
Chromosome Location	chr11:46757919-46757920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46757054..46759693-chr11:46760177..46761810,2	MCF-7	breast:
2	chr11:46756420..46758070-chr11:46763484..46765200,2	MCF-7	breast:
3	chr11:46721813..46723552-chr11:46755545..46758064,2	K562	blood:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11820768	1.00[MEX][hapmap]
rs11822837	1.00[TSI][hapmap]
rs12805342	1.00[TSI][hapmap]
rs35569076	1.00[MEX][hapmap]
rs4400757	1.00[MEX][hapmap]
rs61749083	0.87[AFR][1000 genomes]
rs7124331	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46746000-46758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46749800-46764000	Weak transcription	Aorta	Aorta
6	chr11:46750000-46762800	Weak transcription	Spleen	Spleen
7	chr11:46751200-46760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:46751200-46761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:46751200-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:46751400-46760200	Weak transcription	A549	lung
11	chr11:46751400-46760400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:46751400-46762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:46752000-46760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:46752000-46762800	Weak transcription	Gastric	stomach
15	chr11:46752000-46763400	Weak transcription	Esophagus	oesophagus
16	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
17	chr11:46756200-46758400	Genic enhancers	Liver	Liver
18	chr11:46757400-46762600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:46757400-46762800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:46757800-46758400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:46757800-46758400	Genic enhancers	HepG2	liver
22	chr11:46757800-46762600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:46757800-46762800	Weak transcription	H9 Cell Line	embryonic stem cell

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