Variant report

Variant	rs285572
Chromosome Location	chr12:41915678-41915679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785248	0.89[JPT][hapmap]
rs169564	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2446145	0.83[EUR][1000 genomes]
rs2468312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2599254	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2608698	0.83[EUR][1000 genomes]
rs2608699	0.83[EUR][1000 genomes]
rs2608713	0.83[EUR][1000 genomes]
rs2608717	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2730812	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2730815	0.83[EUR][1000 genomes]
rs2730825	0.83[EUR][1000 genomes]
rs2730831	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2730832	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2733288	0.83[EUR][1000 genomes]
rs285551	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs285552	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285553	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285554	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285558	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285559	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs285570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285576	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs285589	0.81[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285591	0.83[EUR][1000 genomes]
rs285594	0.95[EUR][1000 genomes]
rs285596	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs285597	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs287087	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs392217	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41905200-41916400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:41908000-41915800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:41914000-41917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41914600-41915800	Enhancers	NHLF	lung
5	chr12:41914600-41917400	Enhancers	HSMM	muscle
6	chr12:41915000-41915800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr12:41915000-41915800	Enhancers	HUVEC	blood vessel
8	chr12:41915000-41916000	Enhancers	Fetal Lung	lung
9	chr12:41915000-41916600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:41915000-41916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:41915200-41915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:41915200-41915800	Enhancers	NHDF-Ad	bronchial
13	chr12:41915200-41916400	Enhancers	Colon Smooth Muscle	Colon
14	chr12:41915400-41915800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:41915400-41915800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:41915400-41915800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:41915400-41915800	Enhancers	Adipose Nuclei	Adipose
18	chr12:41915400-41915800	Active TSS	Aorta	Aorta
19	chr12:41915400-41915800	Enhancers	Brain Substantia Nigra	brain
20	chr12:41915400-41915800	Enhancers	NH-A	brain
21	chr12:41915400-41916000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:41915400-41916000	Enhancers	Brain Germinal Matrix	brain
23	chr12:41915400-41916000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:41915400-41916400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:41915400-41916400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:41915400-41916400	Enhancers	Hela-S3	cervix
27	chr12:41915400-41916400	Enhancers	Osteobl	bone
28	chr12:41915400-41916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:41915400-41917200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:41915600-41915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:41915600-41915800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:41915600-41915800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:41915600-41915800	Enhancers	Brain Anterior Caudate	brain
34	chr12:41915600-41915800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:41915600-41915800	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:41915600-41915800	Enhancers	Dnd41	blood
37	chr12:41915600-41915800	Flanking Active TSS	HMEC	breast
38	chr12:41915600-41915800	Flanking Active TSS	HSMMtube	muscle
39	chr12:41915600-41915800	Flanking Active TSS	NHEK	skin
40	chr12:41915600-41916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:41915600-41916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:41915600-41916000	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:41915600-41916000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:41915600-41916000	Weak transcription	Fetal Stomach	stomach
45	chr12:41915600-41916200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:41915600-41916200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:41915600-41916200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr12:41915600-41916200	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:41915600-41916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:41915600-41916400	Enhancers	HUES64 Cell Line	embryonic stem cell

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