Variant report

Variant	rs11940122
Chromosome Location	chr4:7949712-7949713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7940858..7944255-chr4:7948731..7952415,4	MCF-7	breast:
2	chr4:7948820..7951616-chr4:7956556..7958489,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1316322	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1320069	0.81[CEU][hapmap]
rs2386055	0.84[ASN][1000 genomes]
rs4320125	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4385040	0.81[CEU][hapmap]
rs4696833	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696835	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5012709	0.81[CEU][hapmap]
rs6447882	0.85[ASN][1000 genomes]
rs7685634	0.81[CEU][hapmap]
rs7685656	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696745	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
2	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:7943600-7950600	Weak transcription	Fetal Heart	heart
7	chr4:7945400-7957400	Weak transcription	Placenta	Placenta
8	chr4:7946800-7950800	Weak transcription	Liver	Liver
9	chr4:7947600-7950400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:7948000-7950600	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:7948200-7949800	Weak transcription	Pancreas	Pancrea
12	chr4:7948200-7949800	Weak transcription	HepG2	liver
13	chr4:7948200-7950000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:7948200-7950400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:7948400-7949800	Weak transcription	Fetal Brain Male	brain
16	chr4:7948400-7950400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:7948400-7950600	Weak transcription	Ovary	ovary
18	chr4:7948400-7951000	Weak transcription	Fetal Brain Female	brain
19	chr4:7948600-7951000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:7949000-7952400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7949200-7950200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr4:7949600-7950200	Enhancers	Primary T helper cells fromperipheralblood	blood

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