Variant report

Variant	rs1986032
Chromosome Location	chr14:63840466-63840467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10083326	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10135461	0.81[EUR][1000 genomes]
rs10135846	0.91[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142991	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143004	0.81[EUR][1000 genomes]
rs10146129	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148077	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150042	0.81[EUR][1000 genomes]
rs10151995	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158486	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158487	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158488	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11624328	0.81[EUR][1000 genomes]
rs11624485	0.83[EUR][1000 genomes]
rs12432694	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433884	0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12435569	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12587233	0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590225	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1475038	0.80[CEU][hapmap]
rs1475039	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2006073	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2145603	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2356515	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28366791	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28571942	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742624	0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783747	0.91[CHB][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3813413	0.91[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825649	0.91[CHB][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829766	0.83[EUR][1000 genomes]
rs61994988	0.81[EUR][1000 genomes]
rs61994995	0.86[EUR][1000 genomes]
rs61994996	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61994998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573512	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573513	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140274	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141176	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143299	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144210	0.82[JPT][hapmap]
rs7146445	0.90[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147454	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7147693	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148631	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150819	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7161314	0.89[EUR][1000 genomes]
rs7342572	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743221	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004556	0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8005319	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015072	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015815	0.91[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8017758	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020260	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8020616	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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
5	nsv431011	chr14:63743247-63866686	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051684	chr14:63752916-63867677	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2751279	chr14:63754363-63871416	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2751280	chr14:63758432-63855575	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2751281	chr14:63758432-63866686	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1041108	chr14:63765661-63864885	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2761522	chr14:63765673-63867689	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519574	chr14:63767811-63857808	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1049419	chr14:63775037-63853252	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1053882	chr14:63775037-63857536	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1054848	chr14:63775037-63864885	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1044094	chr14:63775037-63865925	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1039158	chr14:63775037-63866686	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv1036375	chr14:63775037-63867296	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1050897	chr14:63775037-63867677	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv564898	chr14:63775684-63841891	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv456324	chr14:63775684-63857808	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv564899	chr14:63775684-63857808	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv1049638	chr14:63776289-63867296	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1045700	chr14:63777124-63857536	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv456325	chr14:63778748-63852177	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv564901	chr14:63778748-63852177	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv2751282	chr14:63779111-63854805	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv2753320	chr14:63779111-63854805	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv2751283	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	esv2751284	chr14:63779111-63855575	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv431012	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
33	nsv902018	chr14:63786658-63884984	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
34	nsv977473	chr14:63838338-63842511	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63826800-63847600	Weak transcription	Left Ventricle	heart
2	chr14:63829400-63846600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr14:63829400-63848000	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
5	chr14:63829600-63850600	Weak transcription	Pancreas	Pancrea
6	chr14:63829800-63850800	Weak transcription	Aorta	Aorta
7	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
8	chr14:63831400-63846800	Weak transcription	Right Ventricle	heart
9	chr14:63832000-63847400	Weak transcription	NH-A	brain
10	chr14:63832400-63842400	Weak transcription	Hela-S3	cervix
11	chr14:63833400-63846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:63833600-63847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:63834800-63842000	Weak transcription	HUVEC	blood vessel
14	chr14:63835000-63848400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:63835200-63841000	Weak transcription	Fetal Lung	lung
17	chr14:63835200-63842200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:63835200-63847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:63835200-63848000	Weak transcription	Fetal Brain Female	brain
20	chr14:63835200-63848400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:63835400-63846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:63835400-63846800	Weak transcription	Brain Germinal Matrix	brain
23	chr14:63835800-63844600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:63835800-63847400	Weak transcription	NHLF	lung
25	chr14:63836000-63843600	Weak transcription	Fetal Stomach	stomach
26	chr14:63836000-63847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:63836000-63847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:63836000-63847600	Weak transcription	HSMM	muscle
29	chr14:63836400-63846200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:63836400-63846600	Weak transcription	Fetal Intestine Large	intestine
31	chr14:63836400-63848400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:63836600-63842800	Weak transcription	NHEK	skin
33	chr14:63836600-63846800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:63837000-63842000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:63837000-63859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:63837200-63847600	Weak transcription	NHDF-Ad	bronchial
37	chr14:63837400-63841000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:63837400-63847600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:63837600-63846600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:63837800-63840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:63837800-63841000	Weak transcription	Primary T cells from cord blood	blood
42	chr14:63837800-63842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:63837800-63842600	Weak transcription	A549	lung
44	chr14:63837800-63846000	Weak transcription	Fetal Intestine Small	intestine
45	chr14:63837800-63846600	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:63837800-63846800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:63837800-63847200	Weak transcription	HSMMtube	muscle
48	chr14:63837800-63847600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:63837800-63847600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:63837800-63848200	Weak transcription	H9 Cell Line	embryonic stem cell

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