Variant report

Variant	rs12864739
Chromosome Location	chr13:30377279-30377280
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1099277	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	0.85[EUR][1000 genomes]
rs12861019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868469	0.85[EUR][1000 genomes]
rs12869833	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571255	0.87[ASN][1000 genomes]
rs1631987	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747058	1.00[ASN][1000 genomes]
rs1747059	1.00[ASN][1000 genomes]
rs1747060	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.82[ASN][1000 genomes]
rs2031280	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182775	0.82[ASN][1000 genomes]
rs2182776	0.82[ASN][1000 genomes]
rs2182777	0.82[ASN][1000 genomes]
rs2256122	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476650	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278032	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278039	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794296	1.00[ASN][1000 genomes]
rs2794297	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[ASN][1000 genomes]
rs2794300	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892464	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3118078	1.00[ASN][1000 genomes]
rs3118079	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114731	0.82[EUR][1000 genomes]
rs34129219	0.85[EUR][1000 genomes]
rs34232669	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317115	0.85[EUR][1000 genomes]
rs34333613	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34726132	0.82[EUR][1000 genomes]
rs34837672	0.85[EUR][1000 genomes]
rs34943308	0.82[EUR][1000 genomes]
rs35177317	0.85[EUR][1000 genomes]
rs35452290	0.82[EUR][1000 genomes]
rs35520191	0.85[EUR][1000 genomes]
rs35693706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35727212	0.85[EUR][1000 genomes]
rs35735441	0.85[EUR][1000 genomes]
rs35828457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849390	0.82[EUR][1000 genomes]
rs35933528	0.85[EUR][1000 genomes]
rs36082926	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[ASN][1000 genomes]
rs4142339	1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.87[ASN][1000 genomes]
rs4385989	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399408	1.00[ASN][1000 genomes]
rs4611301	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.82[ASN][1000 genomes]
rs4769024	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[ASN][1000 genomes]
rs57634252	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961964	1.00[ASN][1000 genomes]
rs6490427	1.00[ASN][1000 genomes]
rs6490428	1.00[ASN][1000 genomes]
rs6490431	1.00[ASN][1000 genomes]
rs71427282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434758	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434759	0.85[EUR][1000 genomes]
rs71434760	0.85[EUR][1000 genomes]
rs71434762	0.85[EUR][1000 genomes]
rs71434763	0.85[EUR][1000 genomes]
rs71434764	0.82[EUR][1000 genomes]
rs71434765	0.82[EUR][1000 genomes]
rs71434766	0.82[EUR][1000 genomes]
rs719199	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322158	0.87[ASN][1000 genomes]
rs74044752	1.00[ASN][1000 genomes]
rs7983788	1.00[ASN][1000 genomes]
rs7985986	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8001320	1.00[ASN][1000 genomes]
rs8001330	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912394	0.87[ASN][1000 genomes]
rs9314977	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943561	0.82[ASN][1000 genomes]
rs9508549	0.82[ASN][1000 genomes]
rs9508551	1.00[ASN][1000 genomes]
rs9550492	1.00[ASN][1000 genomes]
rs9551734	0.87[ASN][1000 genomes]
rs968612	1.00[ASN][1000 genomes]
rs9788356	0.87[ASN][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30363800-30385000	Weak transcription	Left Ventricle	heart
2	chr13:30365800-30383200	Weak transcription	Ovary	ovary
3	chr13:30366200-30381400	Weak transcription	Stomach Mucosa	stomach
4	chr13:30372800-30378000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:30372800-30378000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30373000-30377800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:30373200-30377600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:30373400-30383200	Weak transcription	Small Intestine	intestine
9	chr13:30374000-30380200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:30374200-30380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:30374200-30383200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:30375200-30377400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:30375200-30377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr13:30375400-30383200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:30375600-30377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:30375800-30377600	Enhancers	HSMM	muscle
17	chr13:30375800-30377800	Enhancers	Osteobl	bone
18	chr13:30376000-30377400	Enhancers	HSMMtube	muscle
19	chr13:30376200-30380400	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:30376200-30380600	Weak transcription	Brain Angular Gyrus	brain
21	chr13:30376200-30381400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:30376200-30384200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:30376400-30377400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:30376400-30378600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:30376400-30380000	Weak transcription	Pancreas	Pancrea
26	chr13:30376400-30383200	Weak transcription	Brain Anterior Caudate	brain
27	chr13:30376400-30383400	Weak transcription	Gastric	stomach
28	chr13:30376400-30386000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr13:30376600-30377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:30376600-30379400	Weak transcription	Psoas Muscle	Psoas
31	chr13:30376600-30380400	Weak transcription	Brain Substantia Nigra	brain
32	chr13:30376600-30380600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:30376600-30380600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:30376600-30381400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr13:30376600-30383600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr13:30376600-30383800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr13:30376600-30383800	Weak transcription	Right Atrium	heart
38	chr13:30376600-30384000	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:30376600-30385200	Weak transcription	Lung	lung
40	chr13:30376600-30385600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:30376800-30377600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:30376800-30377800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:30376800-30380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:30376800-30381400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr13:30376800-30383400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:30377000-30377400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:30377000-30378200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr13:30377000-30380600	Weak transcription	Liver	Liver
50	chr13:30377000-30381400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links