Variant report

Variant	rs12894035
Chromosome Location	chr14:64344741-64344742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12879641	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880477	0.97[ASN][1000 genomes]
rs12881241	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882972	1.00[ASN][1000 genomes]
rs12883728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889107	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12889504	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894619	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896216	0.97[ASN][1000 genomes]
rs12898127	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101419	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17101437	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17225497	0.97[ASN][1000 genomes]
rs1959033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356994	0.97[ASN][1000 genomes]
rs34252863	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34292510	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34294645	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35103832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35244884	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353466	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35499091	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35635100	1.00[ASN][1000 genomes]
rs35672192	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35752453	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35773852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860218	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57010514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416311	1.00[ASN][1000 genomes]
rs71416313	1.00[ASN][1000 genomes]
rs71416318	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71437513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003797	1.00[ASN][1000 genomes]
rs9707777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active 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	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
2	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:64327600-64360000	Weak transcription	Gastric	stomach
4	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:64337000-64357200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
9	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
10	chr14:64338000-64353800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:64338000-64355200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:64340400-64345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:64340600-64345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:64340600-64345200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:64341000-64356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:64341000-64357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:64341200-64345000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:64341200-64346200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64341200-64348400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:64341200-64348600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:64341200-64348800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:64341200-64351000	Weak transcription	Right Ventricle	heart
24	chr14:64341200-64352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:64341200-64352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:64341200-64354000	Weak transcription	Dnd41	blood
27	chr14:64341200-64354800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:64341200-64356400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:64341200-64356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:64341200-64356600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:64341200-64357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:64341200-64357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:64341200-64357200	Weak transcription	Fetal Lung	lung
34	chr14:64341200-64357200	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:64341400-64344800	Weak transcription	Colonic Mucosa	Colon
36	chr14:64341400-64352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:64341400-64352600	Weak transcription	Stomach Mucosa	stomach
38	chr14:64341400-64356600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:64341400-64356600	Weak transcription	Fetal Kidney	kidney
40	chr14:64341400-64366800	Weak transcription	Primary T cells from cord blood	blood
41	chr14:64341600-64345000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:64341800-64345000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr14:64342000-64350800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:64342400-64345200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:64342400-64345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:64342400-64348400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:64342400-64350800	Weak transcription	Pancreas	Pancrea
48	chr14:64342400-64354800	Weak transcription	Aorta	Aorta
49	chr14:64342400-64357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:64342600-64348600	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links