Variant report

Variant	rs11175103
Chromosome Location	chr12:40476027-40476028
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10784340	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877913	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877955	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877971	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs11174603	0.86[JPT][hapmap]
rs11174831	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174928	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11175102	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175256	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175260	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175401	1.00[CEU][hapmap]
rs11175422	1.00[CEU][hapmap]
rs12372213	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581285	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1491924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17442157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17458156	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17458613	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17518546	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2201144	1.00[ASW][hapmap]
rs2708437	1.00[ASW][hapmap]
rs2708438	1.00[ASW][hapmap]
rs28365172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28365179	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28365683	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28370683	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
2	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:40474000-40476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:40474200-40476200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:40474400-40497000	Weak transcription	Ovary	ovary
8	chr12:40474800-40480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:40475400-40483000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:40475600-40476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:40475600-40476800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr12:40475600-40476800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:40475800-40476200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr12:40475800-40476600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:40475800-40476600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:40475800-40476600	ZNF genes & repeats	Aorta	Aorta
19	chr12:40475800-40476600	ZNF genes & repeats	Fetal Stomach	stomach
20	chr12:40475800-40476800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:40475800-40479400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:40475800-40480000	Weak transcription	Right Ventricle	heart
23	chr12:40476000-40479400	Weak transcription	Liver	Liver
24	chr12:40476000-40480200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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