Variant report

Variant	rs12897885
Chromosome Location	chr14:78311574-78311575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10873312	0.88[ASN][1000 genomes]
rs11159291	0.88[ASN][1000 genomes]
rs11159294	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11159298	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11159299	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159300	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159301	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159302	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159305	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621642	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622297	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625833	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629157	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587361	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590199	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12879726	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879890	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12884153	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12891444	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891769	1.00[ASN][1000 genomes]
rs12894510	0.81[ASN][1000 genomes]
rs17826188	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003600	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2013130	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2080815	0.93[ASN][1000 genomes]
rs2080816	1.00[ASN][1000 genomes]
rs2080817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080818	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2098584	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287648	0.87[ASN][1000 genomes]
rs2287650	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364743	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364842	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2886166	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783962	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783966	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783968	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783969	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4359362	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4393507	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4411442	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899677	0.87[ASN][1000 genomes]
rs4903650	0.88[ASN][1000 genomes]
rs4903652	0.88[ASN][1000 genomes]
rs4903653	0.88[ASN][1000 genomes]
rs4903654	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903656	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903657	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903658	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903663	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903666	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4903667	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7147735	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7149884	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs719049	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs726538	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7401295	0.88[ASN][1000 genomes]
rs741573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493235	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7494718	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014296	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8020016	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877561	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs962540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
5	chr14:78297600-78324000	Weak transcription	Ovary	ovary
6	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
7	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:78301400-78325200	Weak transcription	Gastric	stomach
13	chr14:78301400-78325400	Weak transcription	Lung	lung
14	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
16	chr14:78302200-78331000	Weak transcription	Liver	Liver
17	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
22	chr14:78306600-78330400	Weak transcription	Dnd41	blood
23	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:78310400-78313000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:78310600-78311600	Strong transcription	Primary T cells from cord blood	blood
28	chr14:78311000-78311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:78311000-78313000	Weak transcription	Fetal Stomach	stomach
30	chr14:78311200-78311600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:78311200-78311600	Enhancers	Adipose Nuclei	Adipose
32	chr14:78311200-78311600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:78311200-78311800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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