Variant report

Variant	rs73084486
Chromosome Location	chr12:31678346-31678347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1038066	0.85[EUR][1000 genomes]
rs1269139	0.80[EUR][1000 genomes]
rs12809140	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12812075	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12816170	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12816386	0.88[EUR][1000 genomes]
rs12818749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819062	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12820294	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821808	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12822601	0.93[EUR][1000 genomes]
rs12825207	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826193	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12831480	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17497517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497998	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126897	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34007930	0.88[EUR][1000 genomes]
rs34094545	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184789	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34271764	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34308937	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34450466	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34585237	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34642866	0.88[EUR][1000 genomes]
rs34667511	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34949976	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34955459	0.90[EUR][1000 genomes]
rs34986122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029695	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35193529	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35545963	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35567364	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35679974	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692484	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3850967	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4338625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930981	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930983	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931485	0.81[EUR][1000 genomes]
rs4931498	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4931503	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931504	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931518	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635343	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55643034	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771933	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56183451	0.88[EUR][1000 genomes]
rs56234529	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56282720	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409505	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66479670	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66520413	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66552209	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs66597773	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66635949	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67415228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67963293	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68030436	0.86[EUR][1000 genomes]
rs71455664	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs71455667	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71455668	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71455669	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71455670	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455671	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080503	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73086471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088505	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088597	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31667800-31687600	Weak transcription	Pancreas	Pancrea
2	chr12:31671000-31680200	Weak transcription	Right Atrium	heart
3	chr12:31672000-31678600	Weak transcription	Left Ventricle	heart
4	chr12:31672200-31678400	Weak transcription	Adipose Nuclei	Adipose
5	chr12:31672200-31678600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:31672200-31680000	Weak transcription	Right Ventricle	heart
7	chr12:31672600-31679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:31672800-31681000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
10	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:31673200-31679600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:31673400-31681200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:31673400-31681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:31673400-31688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:31674600-31678600	Enhancers	Osteobl	bone
16	chr12:31675200-31678400	Weak transcription	HepG2	liver
17	chr12:31675400-31679000	Weak transcription	Liver	Liver
18	chr12:31675600-31678600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:31675600-31689000	Weak transcription	Small Intestine	intestine
20	chr12:31675800-31678400	Weak transcription	Fetal Intestine Large	intestine
21	chr12:31675800-31679200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:31676000-31681000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:31676000-31685800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:31676200-31678600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:31676400-31679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:31676400-31684600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:31676800-31678800	Enhancers	HSMM	muscle
28	chr12:31676800-31679200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:31676800-31681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:31677000-31683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:31677000-31683600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:31677000-31684000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:31677200-31678600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:31677200-31679000	Enhancers	Psoas Muscle	Psoas
35	chr12:31677200-31679600	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:31677200-31680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:31677200-31681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:31677200-31683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:31677400-31678600	Enhancers	NHEK	skin
40	chr12:31677600-31678400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:31677600-31678400	Enhancers	HMEC	breast
42	chr12:31677600-31678600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:31677600-31678600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:31677600-31678800	Flanking Active TSS	A549	lung
45	chr12:31677600-31679000	Enhancers	Fetal Heart	heart
46	chr12:31677600-31679000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:31677600-31679600	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:31677600-31680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:31677600-31680400	Enhancers	Brain Angular Gyrus	brain
50	chr12:31677600-31681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links