Variant report

Variant	rs285573
Chromosome Location	chr12:41915951-41915952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10785248	0.88[JPT][hapmap]
rs169564	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2446145	0.83[EUR][1000 genomes]
rs2468312	0.98[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];0.94[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	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285553	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs285554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285558	1.00[CEU][hapmap];0.96[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];0.98[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];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285572	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	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs285588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs285589	0.81[CHB][hapmap];0.83[JPT][hapmap];0.94[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]
rs389166	0.84[YRI][hapmap]
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:75 , 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	chr12:41914000-41917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:41914600-41917400	Enhancers	HSMM	muscle
4	chr12:41915000-41916000	Enhancers	Fetal Lung	lung
5	chr12:41915000-41916600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:41915000-41916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:41915200-41916400	Enhancers	Colon Smooth Muscle	Colon
8	chr12:41915400-41916000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:41915400-41916000	Enhancers	Brain Germinal Matrix	brain
10	chr12:41915400-41916000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:41915400-41916400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:41915400-41916400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:41915400-41916400	Enhancers	Hela-S3	cervix
14	chr12:41915400-41916400	Enhancers	Osteobl	bone
15	chr12:41915400-41916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:41915400-41917200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:41915600-41916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:41915600-41916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:41915600-41916000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:41915600-41916000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:41915600-41916000	Weak transcription	Fetal Stomach	stomach
22	chr12:41915600-41916200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:41915600-41916200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:41915600-41916200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:41915600-41916200	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:41915600-41916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:41915600-41916400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:41915600-41916400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:41915600-41916400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:41915600-41916400	Enhancers	Fetal Kidney	kidney
31	chr12:41915600-41916400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:41915800-41916000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:41915800-41916000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr12:41915800-41916000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:41915800-41916000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:41915800-41916000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:41915800-41916000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:41915800-41916000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:41915800-41916000	Flanking Active TSS	Aorta	Aorta
40	chr12:41915800-41916000	Flanking Active TSS	A549	lung
41	chr12:41915800-41916000	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:41915800-41916200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:41915800-41916200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:41915800-41916200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:41915800-41916200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:41915800-41916200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:41915800-41916200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr12:41915800-41916200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr12:41915800-41916200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr12:41915800-41916200	Active TSS	Right Atrium	heart

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