Variant report

Variant	rs9526762
Chromosome Location	chr13:52031143-52031144
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	chr13:52029221-52031973	K562	blood:	n/a	n/a
2	POLR2A	chr13:52030281-52031290	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr13:52031047-52031375	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:52030048-52031195	Raji	blood:	n/a	n/a
5	POLR2A	chr13:52030169-52031714	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr13:52029509-52031916	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
2	chr13:52029332..52032158-chr13:52157074..52159871,2	K562	blood:
3	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:

Variant related genes	Relation type
INTS6	TF binding region
RPS4XP16	TF binding region
ENSG00000139668	Chromatin interaction
ENSG00000243900	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1970132	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2277445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408364	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2897913	0.81[AFR][1000 genomes]
rs3930275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4409985	1.00[AFR][1000 genomes]
rs7322726	1.00[AFR][1000 genomes]
rs7323366	1.00[AFR][1000 genomes]
rs7325241	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7329338	1.00[AFR][1000 genomes]
rs7991492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992256	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526753	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9526767	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526770	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535695	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568611	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52028600-52032200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:52028600-52034000	Weak transcription	Aorta	Aorta
3	chr13:52028600-52036000	Weak transcription	HSMMtube	muscle
4	chr13:52028800-52031600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr13:52028800-52032000	Weak transcription	Osteobl	bone
6	chr13:52029000-52031400	Weak transcription	Fetal Kidney	kidney
7	chr13:52029000-52031800	Weak transcription	NHDF-Ad	bronchial
8	chr13:52029000-52032600	Weak transcription	NHLF	lung
9	chr13:52029000-52033400	Weak transcription	NHEK	skin
10	chr13:52029000-52034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:52029200-52031400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:52029400-52031200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:52029600-52031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:52029600-52031400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:52029600-52031400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:52029600-52031400	Strong transcription	Fetal Stomach	stomach
17	chr13:52029600-52031600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:52029600-52031600	Strong transcription	Ovary	ovary
19	chr13:52029600-52031600	Genic enhancers	Pancreas	Pancrea
20	chr13:52029600-52031600	ZNF genes & repeats	Thymus	Thymus
21	chr13:52029800-52031200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:52029800-52031200	Strong transcription	Primary T cells from cord blood	blood
23	chr13:52029800-52031800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:52029800-52032000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:52030000-52031200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:52030000-52031400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:52030000-52031400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr13:52030200-52031200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr13:52030200-52031800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:52030400-52031200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr13:52030400-52031200	Strong transcription	Fetal Lung	lung
32	chr13:52030400-52031400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:52030400-52031800	Strong transcription	Fetal Muscle Leg	muscle
34	chr13:52030400-52035200	Weak transcription	HSMM	muscle
35	chr13:52030600-52031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:52030600-52031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:52030600-52031600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr13:52030600-52031800	Weak transcription	Brain Angular Gyrus	brain
39	chr13:52030600-52031800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:52030600-52032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:52030600-52032200	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:52030600-52032400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:52030600-52032400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:52030600-52035800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:52030600-52036000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:52030600-52038800	Weak transcription	HepG2	liver
47	chr13:52030800-52031400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:52030800-52031400	Genic enhancers	Spleen	Spleen
49	chr13:52030800-52031800	Strong transcription	Primary B cells from cord blood	blood
50	chr13:52030800-52032000	Enhancers	Primary monocytes fromperipheralblood	blood

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