Variant report

Variant	rs1355734
Chromosome Location	chr12:26425752-26425753
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	FOXA2	chr12:26425716-26426022	HepG2	liver:	n/a	n/a
2	FOXA2	chr12:26425660-26426040	A549	lung:	n/a	n/a
3	FOXA1	chr12:26425720-26426018	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:26425682-26426045	HepG2	liver:	n/a	n/a
5	MAZ	chr12:26424666-26425937	IMR90	lung:	n/a	n/a
6	FOXA2	chr12:26425568-26426051	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:26424790..26426551-chr12:26525844..26528409,2	MCF-7	breast:
2	chr12:26417164..26419767-chr12:26425510..26427946,2	K562	blood:
3	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255750	TF binding region
ENSG00000212549	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11048441	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1463583	0.97[ASN][1000 genomes]
rs1480031	0.97[ASN][1000 genomes]
rs1480038	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1480040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1480044	0.81[EUR][1000 genomes]
rs1480045	0.81[EUR][1000 genomes]
rs1533249	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913234	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2343875	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4963659	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487545	0.84[ASN][1000 genomes]
rs7295825	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753616	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7956017	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7963516	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs7976541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
2	chr12:26421600-26426000	Enhancers	HSMM	muscle
3	chr12:26421800-26435800	Weak transcription	Gastric	stomach
4	chr12:26422600-26427000	Weak transcription	Small Intestine	intestine
5	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:26423200-26427200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:26423600-26426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:26423800-26426000	Enhancers	Osteobl	bone
9	chr12:26423800-26426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:26423800-26427400	Enhancers	NHEK	skin
11	chr12:26423800-26429000	Enhancers	HMEC	breast
12	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach
13	chr12:26424000-26427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:26424000-26429000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:26424000-26429200	Enhancers	Fetal Intestine Large	intestine
16	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:26424200-26429000	Enhancers	Fetal Muscle Leg	muscle
18	chr12:26424400-26425800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:26424400-26426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:26424400-26428400	Enhancers	Right Atrium	heart
21	chr12:26424400-26430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:26424600-26426000	Enhancers	Fetal Stomach	stomach
23	chr12:26424600-26426000	Enhancers	Pancreas	Pancrea
24	chr12:26424600-26426800	Enhancers	K562	blood
25	chr12:26424600-26427200	Enhancers	Brain Hippocampus Middle	brain
26	chr12:26424600-26427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:26424600-26429000	Enhancers	Brain Substantia Nigra	brain
28	chr12:26424600-26429000	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:26424600-26429000	Enhancers	Placenta	Placenta
30	chr12:26424600-26429000	Enhancers	Fetal Thymus	thymus
31	chr12:26424600-26429200	Enhancers	Brain Anterior Caudate	brain
32	chr12:26424600-26431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:26424600-26433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:26424800-26425800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:26424800-26425800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:26424800-26427400	Enhancers	HepG2	liver
37	chr12:26424800-26447000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:26425000-26426000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:26425000-26426000	Enhancers	NH-A	brain
40	chr12:26425000-26426200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:26425000-26426800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:26425000-26427000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:26425000-26427000	Enhancers	GM12878-XiMat	blood
44	chr12:26425000-26427000	Enhancers	Hela-S3	cervix
45	chr12:26425000-26427200	Weak transcription	Fetal Lung	lung
46	chr12:26425000-26427400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:26425000-26427400	Weak transcription	Colonic Mucosa	Colon
48	chr12:26425200-26426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:26425200-26427000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:26425200-26427600	Enhancers	Stomach Smooth Muscle	stomach

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