Variant report

Variant	rs3812762
Chromosome Location	chr11:8751640-8751641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:8751615-8752092	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr11:8751620-8751941	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8711146..8713516-chr11:8750024..8752030,2	K562	blood:
2	chr11:8700027..8703082-chr11:8748797..8752038,3	MCF-7	breast:
3	chr11:8704389..8706036-chr11:8750148..8752543,2	K562	blood:
4	chr11:8750659..8752161-chr11:8770797..8772981,2	MCF-7	breast:
5	chr11:8745341..8747316-chr11:8750121..8752572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000254900	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10160684	0.85[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs10500705	0.90[CEU][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10500707	0.90[CEU][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs10732515	0.86[CEU][hapmap]
rs10734636	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10734637	0.82[EUR][1000 genomes]
rs10743087	0.86[CEU][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs10743088	0.86[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs10743089	0.86[CEU][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs10769953	0.90[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs10769954	0.82[EUR][1000 genomes]
rs10769959	0.86[CEU][hapmap]
rs1079452	0.86[CEU][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs11042058	0.90[CEU][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042066	0.86[CEU][hapmap]
rs11042068	0.90[CEU][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs2173999	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2292045	0.90[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs2292046	0.86[CEU][hapmap]
rs2873297	0.86[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs34090393	0.85[AMR][1000 genomes]
rs34524863	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35098775	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35670750	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3763920	0.86[CEU][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs3844100	0.89[CEU][hapmap]
rs3862352	0.80[AMR][1000 genomes]
rs4929910	0.86[CEU][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs4929931	0.88[EUR][1000 genomes]
rs4929934	0.85[CEU][hapmap]
rs4929936	0.90[CEU][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6484008	0.95[CEU][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7120004	0.86[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs7934519	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs7952335	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs905289	0.91[CEU][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Hypospadias	25108383	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3812762	RPL27A	cis	cerebellum	SCAN
rs3812762	RPL27A	cis	parietal	SCAN
rs3812762	OR51F1	cis	parietal	SCAN
rs3812762	STK33	cis	cerebellum	SCAN
rs3812762	MRPL17	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8735400-8753400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:8736200-8773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8742600-8754000	Weak transcription	Hela-S3	cervix
4	chr11:8744000-8752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:8744000-8754200	Weak transcription	A549	lung
6	chr11:8744200-8757600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:8744800-8753000	Weak transcription	Adipose Nuclei	Adipose
8	chr11:8744800-8753400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:8745000-8754400	Weak transcription	Small Intestine	intestine
10	chr11:8745600-8754000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:8746000-8754200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:8746200-8757400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:8746400-8757200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8746600-8757200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:8746600-8783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:8747800-8751800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:8747800-8756400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:8748000-8751800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:8748000-8752000	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:8748800-8753000	Weak transcription	Aorta	Aorta
21	chr11:8748800-8754600	Weak transcription	Fetal Thymus	thymus
22	chr11:8749000-8754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:8749400-8753400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:8749400-8753600	Weak transcription	HUVEC	blood vessel
25	chr11:8749400-8754400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:8749400-8754600	Weak transcription	Fetal Kidney	kidney
27	chr11:8750000-8752800	Strong transcription	Placenta	Placenta
28	chr11:8750000-8753200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:8750200-8752200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:8750200-8752600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:8750200-8753200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:8750200-8753800	Strong transcription	Fetal Intestine Small	intestine
33	chr11:8750400-8752600	Strong transcription	Pancreas	Pancrea
34	chr11:8750400-8752800	Strong transcription	HMEC	breast
35	chr11:8750400-8753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:8750400-8753600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:8750600-8752600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:8750600-8752600	Weak transcription	Brain Germinal Matrix	brain
39	chr11:8750600-8752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:8750600-8753000	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:8750600-8753800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:8750600-8754000	Weak transcription	Psoas Muscle	Psoas
43	chr11:8750800-8752400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:8750800-8752400	Strong transcription	Esophagus	oesophagus
45	chr11:8750800-8752800	Weak transcription	HSMMtube	muscle
46	chr11:8750800-8753400	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:8750800-8760200	Weak transcription	Fetal Brain Male	brain
48	chr11:8751000-8752200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:8751000-8752200	Strong transcription	HSMM	muscle
50	chr11:8751000-8752400	Strong transcription	Left Ventricle	heart

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