Variant report

Variant	rs10785348
Chromosome Location	chr12:42962714-42962715
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10785347	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs10880317	0.80[EUR][1000 genomes]
rs10880324	0.86[JPT][hapmap]
rs11181569	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2141929	0.82[ASN][1000 genomes]
rs4768422	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7134699	0.84[AFR][1000 genomes]
rs7300057	0.93[YRI][hapmap];0.83[AFR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42941200-42963400	Weak transcription	NHEK	skin
3	chr12:42945800-42963800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:42946800-42975200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42953000-42963400	Weak transcription	Stomach Mucosa	stomach
6	chr12:42955800-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:42959200-42963400	Weak transcription	Placenta	Placenta
8	chr12:42959200-42969000	Weak transcription	Fetal Stomach	stomach
9	chr12:42959200-42971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:42959400-42963200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:42959400-42963400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:42959600-42963200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:42959600-42963400	Weak transcription	Fetal Lung	lung
15	chr12:42959800-42963400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:42959800-42965200	Weak transcription	Ovary	ovary
17	chr12:42959800-42968400	Weak transcription	Adipose Nuclei	Adipose
18	chr12:42960000-42963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:42960000-42963400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:42960000-42967400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:42960000-42969600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:42960000-42969800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:42960000-42976000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:42960200-42968000	Weak transcription	Aorta	Aorta
25	chr12:42960400-42963400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:42960400-42963400	Weak transcription	Right Ventricle	heart
27	chr12:42960400-42965200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:42960400-42965200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:42960400-42967800	Weak transcription	Left Ventricle	heart
30	chr12:42960400-42981400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:42960600-42963000	Weak transcription	HUVEC	blood vessel
32	chr12:42960600-42963200	Weak transcription	HMEC	breast
33	chr12:42960600-42963600	Weak transcription	HSMMtube	muscle
34	chr12:42960800-42963400	Weak transcription	NH-A	brain
35	chr12:42961000-42963200	Weak transcription	HSMM	muscle
36	chr12:42961200-42962800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:42961400-42963400	Weak transcription	Osteobl	bone
38	chr12:42961800-42962800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links