Variant report

Variant	rs12320873
Chromosome Location	chr12:42959982-42959983
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10128834	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11181553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11181555	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11181556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181560	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308577	1.00[CHB][hapmap]
rs12309366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12312958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321305	1.00[ASN][1000 genomes]
rs12321729	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17091361	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103410	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222907	1.00[CHB][hapmap]
rs55930021	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56898852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582403	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6582405	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7308904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7955255	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965297	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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:52 , 50 per page) page: 1 2

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	chr12:42957600-42960600	Strong transcription	HMEC	breast
8	chr12:42958000-42960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:42958200-42960400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:42958600-42960000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:42958600-42960000	Enhancers	Stomach Smooth Muscle	stomach
12	chr12:42958600-42960200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:42958600-42960400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr12:42958600-42960600	Genic enhancers	HUVEC	blood vessel
15	chr12:42958600-42961000	Genic enhancers	Osteobl	bone
16	chr12:42958800-42960000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:42958800-42960400	Enhancers	Right Ventricle	heart
18	chr12:42959000-42960000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:42959000-42960000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:42959000-42960400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:42959000-42960400	Enhancers	Left Ventricle	heart
22	chr12:42959000-42961000	Genic enhancers	HSMM	muscle
23	chr12:42959200-42960000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:42959200-42960000	Enhancers	Right Atrium	heart
25	chr12:42959200-42960400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:42959200-42960400	Enhancers	NHLF	lung
27	chr12:42959200-42963400	Weak transcription	Placenta	Placenta
28	chr12:42959200-42969000	Weak transcription	Fetal Stomach	stomach
29	chr12:42959200-42971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:42959400-42960000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:42959400-42960000	Enhancers	Brain Angular Gyrus	brain
32	chr12:42959400-42960200	Enhancers	Spleen	Spleen
33	chr12:42959400-42963200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:42959400-42963400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:42959600-42960000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:42959600-42960200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr12:42959600-42960200	Enhancers	Aorta	Aorta
39	chr12:42959600-42960400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:42959600-42960400	Genic enhancers	HSMMtube	muscle
41	chr12:42959600-42963200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:42959600-42963400	Weak transcription	Fetal Lung	lung
43	chr12:42959800-42960000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr12:42959800-42960000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr12:42959800-42960000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr12:42959800-42960200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr12:42959800-42960200	Genic enhancers	Fetal Heart	heart
48	chr12:42959800-42960200	Weak transcription	NH-A	brain
49	chr12:42959800-42960400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:42959800-42963400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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