Variant report

Variant	rs56258162
Chromosome Location	chr14:66104168-66104169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12433688	0.94[AFR][1000 genomes]
rs17102688	0.94[AFR][1000 genomes]
rs17102839	0.94[AFR][1000 genomes]
rs55674739	1.00[AFR][1000 genomes];1.00[EUR][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]
rs56350757	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56395501	1.00[EUR][1000 genomes]
rs56401246	0.88[AFR][1000 genomes]
rs56821971	0.94[AFR][1000 genomes]
rs57228058	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57283810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57528434	1.00[EUR][1000 genomes]
rs58087042	0.94[AFR][1000 genomes]
rs58160832	0.94[AFR][1000 genomes]
rs58873346	1.00[EUR][1000 genomes]
rs59328088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60009307	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60225754	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]
rs60789318	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]
rs74056784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
rs74056804	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056811	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056826	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056829	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056849	1.00[EUR][1000 genomes]
rs74056852	1.00[EUR][1000 genomes]
rs74056853	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]
rs74058562	0.94[AFR][1000 genomes]
rs74058563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66077600-66114400	Weak transcription	Ovary	ovary
2	chr14:66079400-66104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:66079600-66104400	Weak transcription	Gastric	stomach
4	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
5	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
6	chr14:66081800-66112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:66082200-66112600	Weak transcription	NHDF-Ad	bronchial
8	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
9	chr14:66084600-66104400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
11	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
12	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:66093800-66104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:66096000-66105400	Weak transcription	HUVEC	blood vessel
15	chr14:66097800-66104600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:66098000-66104400	Weak transcription	NH-A	brain
17	chr14:66098000-66116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
19	chr14:66098200-66115200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:66098200-66118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:66099000-66104400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:66099200-66104400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:66099200-66115200	Weak transcription	Placenta	Placenta
25	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr14:66099400-66104400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:66099400-66104400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:66100800-66104400	Weak transcription	Fetal Thymus	thymus
31	chr14:66101400-66104600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:66102200-66104600	Weak transcription	Primary B cells from cord blood	blood
33	chr14:66102200-66104800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:66102200-66108200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:66102800-66105200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:66102800-66105200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:66103000-66105200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:66103200-66104400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr14:66103200-66105000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:66103200-66105400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:66103200-66112400	Weak transcription	Fetal Intestine Large	intestine
42	chr14:66103400-66104400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:66103600-66104400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:66103600-66105000	Genic enhancers	Dnd41	blood
45	chr14:66103800-66104400	Weak transcription	Fetal Intestine Small	intestine
46	chr14:66103800-66104600	Weak transcription	Primary T cells from cord blood	blood
47	chr14:66103800-66105200	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr14:66103800-66105200	Enhancers	GM12878-XiMat	blood
49	chr14:66104000-66104800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:66104000-66105200	Enhancers	Stomach Mucosa	stomach

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