Variant report

Variant	rs12433688
Chromosome Location	chr14:65928105-65928106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65913368..65916336-chr14:65927007..65928955,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10130526	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131727	0.88[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs10143920	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149311	0.98[ASN][1000 genomes]
rs10483777	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12323434	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12432032	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs12432426	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12433051	0.95[ASN][1000 genomes]
rs12433273	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs12434375	0.86[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12434513	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434626	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12435809	0.91[ASN][1000 genomes]
rs12436349	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12436381	0.88[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs12436402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12436434	1.00[ASN][1000 genomes]
rs12436482	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs12436677	0.91[ASN][1000 genomes]
rs12436871	0.85[JPT][hapmap]
rs12437088	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs12437132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17102688	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102839	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17246385	0.91[ASN][1000 genomes]
rs1952605	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2300863	0.87[ASN][1000 genomes]
rs2300866	0.87[ASN][1000 genomes]
rs2300870	0.81[ASN][1000 genomes]
rs55698845	0.94[AFR][1000 genomes]
rs55723633	0.84[AFR][1000 genomes]
rs55954698	0.94[AFR][1000 genomes]
rs56258162	0.94[AFR][1000 genomes]
rs56401246	0.83[AFR][1000 genomes]
rs56821971	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57283810	0.84[AFR][1000 genomes]
rs58087042	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58160832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59328088	0.83[AFR][1000 genomes]
rs60393585	0.94[AFR][1000 genomes]
rs60470427	0.94[AFR][1000 genomes]
rs61016861	0.94[AFR][1000 genomes]
rs61417186	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7141590	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs74056768	0.94[AFR][1000 genomes]
rs74056775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74056782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056784	0.94[AFR][1000 genomes]
rs74056787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056796	0.94[AFR][1000 genomes]
rs74056798	0.94[AFR][1000 genomes]
rs74056800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058503	0.84[AFR][1000 genomes]
rs74058505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74058507	0.94[AFR][1000 genomes]
rs74058513	0.84[AFR][1000 genomes]
rs74058518	0.94[AFR][1000 genomes]
rs74058519	0.84[AFR][1000 genomes]
rs74058523	0.94[AFR][1000 genomes]
rs74058524	0.94[AFR][1000 genomes]
rs74058525	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74058528	0.94[AFR][1000 genomes]
rs74058529	0.84[AFR][1000 genomes]
rs74058536	0.83[AFR][1000 genomes]
rs74058539	0.94[AFR][1000 genomes]
rs74058541	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74058545	0.94[AFR][1000 genomes]
rs74058546	0.94[AFR][1000 genomes]
rs74058547	0.94[AFR][1000 genomes]
rs74058548	0.94[AFR][1000 genomes]
rs74058549	0.94[AFR][1000 genomes]
rs74058550	0.94[AFR][1000 genomes]
rs74058551	0.94[AFR][1000 genomes]
rs74058553	0.94[AFR][1000 genomes]
rs74058554	0.94[AFR][1000 genomes]
rs74058556	0.94[AFR][1000 genomes]
rs74058557	0.94[AFR][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65898400-65935600	Weak transcription	Gastric	stomach
3	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
8	chr14:65915600-65928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:65917200-65936600	Weak transcription	Pancreas	Pancrea
10	chr14:65918400-65928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:65918600-65935600	Weak transcription	Fetal Stomach	stomach
12	chr14:65918800-65928400	Weak transcription	Fetal Thymus	thymus
13	chr14:65920000-65928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:65920400-65937800	Weak transcription	Ovary	ovary
15	chr14:65920800-65929000	Weak transcription	K562	blood
16	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
17	chr14:65922200-65936400	Weak transcription	Placenta	Placenta
18	chr14:65922800-65928200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:65922800-65928200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:65922800-65928600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:65923200-65928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:65923200-65934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:65923200-65936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:65923200-65938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:65923400-65928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:65923400-65935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65923400-65937000	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65923400-65938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
30	chr14:65923600-65928400	Weak transcription	Adipose Nuclei	Adipose
31	chr14:65924000-65937600	Weak transcription	Fetal Brain Female	brain
32	chr14:65924200-65936600	Weak transcription	Lung	lung
33	chr14:65924400-65930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:65924400-65935400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:65924600-65935400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:65925200-65936000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:65925400-65928200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:65925400-65928200	Strong transcription	Fetal Intestine Large	intestine
39	chr14:65925600-65931600	Strong transcription	Dnd41	blood
40	chr14:65925800-65928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:65925800-65928400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:65925800-65928800	Weak transcription	Aorta	Aorta
43	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
44	chr14:65926000-65938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65926800-65928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:65927000-65928800	Strong transcription	Primary T cells from cord blood	blood
47	chr14:65927000-65929200	Enhancers	Brain Substantia Nigra	brain
48	chr14:65927200-65928400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:65927200-65929400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:65927400-65928200	Genic enhancers	Brain Hippocampus Middle	brain

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