Variant report

Variant	rs11065385
Chromosome Location	chr12:121423386-121423387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121423291-121423449	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121421859..121423940-chr12:121426161..121428350,2	K562	blood:
2	chr12:121419406..121422092-chr12:121422475..121425429,2	K562	blood:
3	chr12:121417392..121420035-chr12:121422545..121425552,3	K562	blood:

Variant related genes	Relation type
HNF1A-AS1	TF binding region
ENSG00000241388	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11065384	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169284	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169286	0.84[JPT][hapmap]
rs1169288	0.95[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1169289	0.84[ASN][1000 genomes]
rs1169292	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1169294	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1169300	0.85[CEU][hapmap];0.88[YRI][hapmap]
rs1169314	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap]
rs1182933	0.80[CEU][hapmap]
rs1183910	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1732391	0.83[AMR][1000 genomes]
rs2243458	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244608	0.95[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2251468	0.85[AMR][1000 genomes]
rs2257764	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs2264750	0.84[AFR][1000 genomes]
rs2393775	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2393776	0.94[ASN][1000 genomes]
rs2393791	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2464196	0.85[CEU][hapmap];0.84[AFR][1000 genomes]
rs2650000	0.83[AMR][1000 genomes]
rs6489786	0.84[AMR][1000 genomes]
rs7310409	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7954039	0.83[AMR][1000 genomes]
rs7954331	0.83[AMR][1000 genomes]
rs7970695	0.97[ASN][1000 genomes]
rs7979473	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7979478	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9738226	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3374215	chr12:121423182-121423451	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 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	chr12:121419400-121423400	Enhancers	Stomach Mucosa	stomach
6	chr12:121419600-121424200	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
8	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121421200-121426000	Weak transcription	Gastric	stomach
10	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
11	chr12:121422000-121423400	Enhancers	Colonic Mucosa	Colon
12	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
13	chr12:121422600-121423400	Genic enhancers	Fetal Intestine Large	intestine
14	chr12:121422600-121423400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:121422600-121424600	Enhancers	Liver	Liver
16	chr12:121423000-121424000	Weak transcription	A549	lung
17	chr12:121423000-121426000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:121423000-121426200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:121423000-121426200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:121423000-121426200	Weak transcription	HepG2	liver
21	chr12:121423000-121426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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