Variant report

Variant	rs4931488
Chromosome Location	chr12:31562899-31562900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10743757	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10743759	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10771827	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771832	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771838	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771843	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10771844	0.86[EUR][1000 genomes]
rs10771845	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771846	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843942	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843958	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843959	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843963	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11051418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051435	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051437	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051439	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051441	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11615961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259428	0.83[EUR][1000 genomes]
rs1469673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996693	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2116704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2352048	0.83[EUR][1000 genomes]
rs2617190	0.82[EUR][1000 genomes]
rs2682697	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2682700	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2888762	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35906870	0.80[AMR][1000 genomes]
rs3803113	0.83[EUR][1000 genomes]
rs3844573	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850965	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3898368	0.85[EUR][1000 genomes]
rs4482118	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930980	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4931501	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4931506	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931507	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6416254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487989	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6487992	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66521153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs708200	0.81[AMR][1000 genomes]
rs708209	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs708214	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs708219	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7133082	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7134365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135856	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136476	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7136943	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7137406	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71440988	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7294574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302698	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7303447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303848	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7307593	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7307616	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7313118	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7313158	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7313689	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314417	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs793146	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs793154	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs793157	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793180	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs793184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7954023	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7954595	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7959877	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7962896	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963161	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7967832	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7968291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975761	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976644	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7977453	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9738834	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
3	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
4	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
6	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
7	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
8	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
9	chr12:31540800-31563400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:31540800-31565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:31540800-31572200	Weak transcription	Lung	lung
12	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:31542200-31566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
17	chr12:31542400-31564600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:31542400-31565400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
23	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
27	chr12:31544800-31565000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
30	chr12:31548800-31566200	Weak transcription	Fetal Kidney	kidney
31	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
32	chr12:31550800-31573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:31551600-31564800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:31553000-31565000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:31555000-31565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:31555200-31566200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:31555400-31565000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:31555400-31565400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:31555600-31571200	Weak transcription	Aorta	Aorta
40	chr12:31555600-31579600	Weak transcription	HepG2	liver
41	chr12:31556200-31564600	Weak transcription	HSMMtube	muscle
42	chr12:31556200-31566200	Weak transcription	HSMM	muscle
43	chr12:31556200-31574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
45	chr12:31556200-31587200	Weak transcription	NH-A	brain
46	chr12:31557000-31573000	Weak transcription	Gastric	stomach
47	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
48	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:31559000-31565000	Weak transcription	Fetal Stomach	stomach
50	chr12:31559800-31563200	Strong transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links