Variant report

Variant	rs7134699
Chromosome Location	chr12:42946777-42946778
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10785347	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785348	0.84[AFR][1000 genomes]
rs7300057	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1036522	chr12:42926075-42961887	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42913800-42957600	Weak transcription	HMEC	breast
2	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
3	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:42929600-42950200	Weak transcription	Left Ventricle	heart
5	chr12:42938400-42946800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:42941200-42963400	Weak transcription	NHEK	skin
8	chr12:42941400-42947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:42941400-42952200	Weak transcription	Ovary	ovary
10	chr12:42942400-42950800	Weak transcription	Psoas Muscle	Psoas
11	chr12:42942600-42951200	Weak transcription	Fetal Lung	lung
12	chr12:42943600-42951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:42943600-42957800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42943800-42950200	Weak transcription	Right Atrium	heart
15	chr12:42943800-42951600	Weak transcription	Osteobl	bone
16	chr12:42943800-42954400	Weak transcription	HSMMtube	muscle
17	chr12:42943800-42955600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:42943800-42958200	Weak transcription	NH-A	brain
19	chr12:42944000-42954800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:42944000-42955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:42944000-42959800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:42944200-42958200	Weak transcription	Fetal Stomach	stomach
23	chr12:42944400-42954600	Weak transcription	HSMM	muscle
24	chr12:42945800-42963800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:42946000-42946800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:42946200-42946800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:42946200-42948200	Strong transcription	HUVEC	blood vessel
28	chr12:42946400-42946800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr12:42946400-42946800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr12:42946400-42946800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:42946400-42947000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr12:42946400-42947000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr12:42946400-42947600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:42946400-42948000	Weak transcription	Fetal Heart	heart
35	chr12:42946600-42946800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr12:42946600-42946800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:42946600-42946800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:42946600-42946800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:42946600-42946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:42946600-42946800	Enhancers	Spleen	Spleen
41	chr12:42946600-42947000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:42946600-42947000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:42946600-42947000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:42946600-42947000	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr12:42946600-42947000	Active TSS	Fetal Brain Female	brain

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