Variant report

Variant	rs1169294
Chromosome Location	chr12:121426594-121426595
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	chr12:121421859..121423940-chr12:121426161..121428350,2	K562	blood:
2	chr12:121426408..121429065-chr12:121429959..121431966,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11065384	0.95[EUR][1000 genomes]
rs11065385	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1169284	0.92[EUR][1000 genomes]
rs1169288	0.83[EUR][1000 genomes]
rs1169292	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169300	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1169301	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1169314	0.84[AMR][1000 genomes]
rs1169315	0.84[AMR][1000 genomes]
rs1182933	0.82[AMR][1000 genomes]
rs1183910	0.95[EUR][1000 genomes]
rs2243458	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2244608	0.84[EUR][1000 genomes]
rs2257764	0.84[AMR][1000 genomes]
rs2264750	0.84[AMR][1000 genomes]
rs2393775	0.83[ASN][1000 genomes]
rs2393776	0.82[ASN][1000 genomes]
rs2393791	0.82[ASN][1000 genomes]
rs2464196	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7310409	0.83[ASN][1000 genomes]
rs9738226	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
3	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121419200-121431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
6	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
8	chr12:121423400-121431600	Weak transcription	Colonic Mucosa	Colon
9	chr12:121424200-121427400	Strong transcription	Fetal Intestine Small	intestine
10	chr12:121424400-121432800	Weak transcription	Stomach Mucosa	stomach
11	chr12:121424600-121427200	Strong transcription	Fetal Intestine Large	intestine
12	chr12:121425000-121432400	Weak transcription	A549	lung
13	chr12:121426000-121426800	Genic enhancers	Gastric	stomach
14	chr12:121426000-121427800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:121426000-121428800	Genic enhancers	Liver	Liver
16	chr12:121426200-121426800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:121426200-121427800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr12:121426200-121427800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:121426200-121440200	Strong transcription	HepG2	liver
20	chr12:121426400-121426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:121426400-121427000	Genic enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links