Variant report

Variant	rs12294700
Chromosome Location	chr11:70923819-70923820
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	chr11:70917562..70919674-chr11:70922188..70924299,2	MCF-7	breast:
2	chr11:70921928..70927780-chr11:70960512..70964640,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162105	Chromatin interaction

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

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

rs_ID	r²[population]
rs11232512	0.81[ASN][1000 genomes]
rs11232537	0.85[ASN][1000 genomes]
rs11232539	0.85[ASN][1000 genomes]
rs11232547	0.81[ASN][1000 genomes]
rs12286663	0.81[ASN][1000 genomes]
rs12290227	0.81[ASN][1000 genomes]
rs2919739	1.00[CEU][hapmap]
rs4367969	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7103396	0.81[ASN][1000 genomes]
rs73537499	0.81[ASN][1000 genomes]
rs7940466	0.81[ASN][1000 genomes]
rs7942557	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70906000-70928600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:70916200-70924200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:70917200-70932800	Weak transcription	Gastric	stomach
4	chr11:70917400-70930000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:70917400-70933600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:70917600-70925200	Weak transcription	Fetal Brain Male	brain
7	chr11:70917600-70934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:70917800-70924000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:70917800-70934000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:70918000-70924800	Weak transcription	Stomach Mucosa	stomach
11	chr11:70918000-70933600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:70920000-70934800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:70920600-70924000	Weak transcription	Pancreas	Pancrea
14	chr11:70920800-70924200	Strong transcription	HepG2	liver
15	chr11:70921000-70924000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:70921000-70926400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:70921000-70929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:70921000-70933600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:70921000-70933800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:70921200-70924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:70921600-70924000	Enhancers	Liver	Liver
22	chr11:70921800-70934000	Weak transcription	A549	lung
23	chr11:70922000-70924000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:70922600-70924000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:70923400-70925000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:70923400-70925000	Enhancers	HSMM	muscle
27	chr11:70923600-70924800	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:70923600-70924800	Enhancers	HSMMtube	muscle
29	chr11:70923600-70925600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:70923600-70925600	Enhancers	Fetal Lung	lung
31	chr11:70923600-70925600	Enhancers	Fetal Stomach	stomach
32	chr11:70923600-70926000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr11:70923800-70924000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:70923800-70924200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:70923800-70924400	Bivalent Enhancer	Brain Hippocampus Middle	brain
36	chr11:70923800-70924400	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:70923800-70924800	Enhancers	Colon Smooth Muscle	Colon
38	chr11:70923800-70925000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:70923800-70926600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links