Variant report

Variant	rs74056784
Chromosome Location	chr14:65928838-65928839
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: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12433688	0.94[AFR][1000 genomes]
rs17102688	0.94[AFR][1000 genomes]
rs17102839	0.94[AFR][1000 genomes]
rs55698845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401246	0.88[AFR][1000 genomes]
rs56821971	0.94[AFR][1000 genomes]
rs57283810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58087042	0.94[AFR][1000 genomes]
rs58160832	0.94[AFR][1000 genomes]
rs59328088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.94[AFR][1000 genomes]
rs74056763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056773	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.94[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.94[AFR][1000 genomes]
rs74056787	0.94[AFR][1000 genomes]
rs74056794	0.94[AFR][1000 genomes]
rs74056795	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.94[AFR][1000 genomes]
rs74058528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058536	0.88[AFR][1000 genomes]
rs74058539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.94[AFR][1000 genomes]
rs74058545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	1.00[AFR][1000 genomes];1.00[EUR][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:89 , 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	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:65913800-65942400	Weak transcription	Left Ventricle	heart
7	chr14:65917200-65936600	Weak transcription	Pancreas	Pancrea
8	chr14:65918600-65935600	Weak transcription	Fetal Stomach	stomach
9	chr14:65920400-65937800	Weak transcription	Ovary	ovary
10	chr14:65920800-65929000	Weak transcription	K562	blood
11	chr14:65920800-65942400	Weak transcription	Stomach Mucosa	stomach
12	chr14:65922200-65936400	Weak transcription	Placenta	Placenta
13	chr14:65923200-65934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:65923200-65936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:65923200-65938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:65923400-65935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65923400-65937000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:65923400-65938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
20	chr14:65924000-65937600	Weak transcription	Fetal Brain Female	brain
21	chr14:65924200-65936600	Weak transcription	Lung	lung
22	chr14:65924400-65930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:65924400-65935400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:65924600-65935400	Weak transcription	Fetal Intestine Small	intestine
25	chr14:65925200-65936000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:65925600-65931600	Strong transcription	Dnd41	blood
27	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
28	chr14:65926000-65938200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:65927000-65929200	Enhancers	Brain Substantia Nigra	brain
30	chr14:65927200-65929400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:65927400-65930400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:65927600-65929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:65927600-65934800	Weak transcription	Fetal Lung	lung
34	chr14:65927600-65935400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:65927600-65936600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:65927600-65936600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:65927800-65929000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:65927800-65929200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:65927800-65929200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:65927800-65929800	Enhancers	HMEC	breast
41	chr14:65928000-65929000	Enhancers	Colon Smooth Muscle	Colon
42	chr14:65928000-65929000	Enhancers	HUVEC	blood vessel
43	chr14:65928000-65929200	Genic enhancers	Primary B cells from cord blood	blood
44	chr14:65928000-65929200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:65928000-65929200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:65928000-65929200	Enhancers	Brain Anterior Caudate	brain
47	chr14:65928000-65929200	Enhancers	NHEK	skin
48	chr14:65928000-65929400	Enhancers	Brain Angular Gyrus	brain
49	chr14:65928000-65929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr14:65928000-65929800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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