Variant report

Variant	rs3742626
Chromosome Location	chr14:63839307-63839308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17101134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225133	0.80[AMR][1000 genomes]
rs17824943	1.00[AMR][1000 genomes]
rs17824991	0.80[AMR][1000 genomes]
rs1951211	0.84[AMR][1000 genomes]
rs2356514	0.87[AMR][1000 genomes]
rs3783746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141733	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272530	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272531	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:102 , 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	chr14:63828600-63839800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63829400-63839800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:63829400-63846600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:63829400-63848000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
7	chr14:63829600-63850600	Weak transcription	Pancreas	Pancrea
8	chr14:63829800-63850800	Weak transcription	Aorta	Aorta
9	chr14:63830200-63839400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
11	chr14:63831400-63846800	Weak transcription	Right Ventricle	heart
12	chr14:63832000-63847400	Weak transcription	NH-A	brain
13	chr14:63832400-63842400	Weak transcription	Hela-S3	cervix
14	chr14:63833400-63846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:63833600-63847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:63834800-63840000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:63834800-63842000	Weak transcription	HUVEC	blood vessel
18	chr14:63835000-63848400	Weak transcription	Brain Substantia Nigra	brain
19	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:63835200-63841000	Weak transcription	Fetal Lung	lung
21	chr14:63835200-63842200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:63835200-63847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:63835200-63848000	Weak transcription	Fetal Brain Female	brain
24	chr14:63835200-63848400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:63835400-63840000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:63835400-63846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:63835400-63846800	Weak transcription	Brain Germinal Matrix	brain
28	chr14:63835800-63839400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:63835800-63844600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:63835800-63847400	Weak transcription	NHLF	lung
31	chr14:63836000-63843600	Weak transcription	Fetal Stomach	stomach
32	chr14:63836000-63847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:63836000-63847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:63836000-63847600	Weak transcription	HSMM	muscle
35	chr14:63836200-63839600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:63836200-63840000	Weak transcription	Primary B cells from cord blood	blood
37	chr14:63836400-63846200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:63836400-63846600	Weak transcription	Fetal Intestine Large	intestine
39	chr14:63836400-63848400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:63836600-63839800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:63836600-63842800	Weak transcription	NHEK	skin
42	chr14:63836600-63846800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:63837000-63839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:63837000-63840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:63837000-63842000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:63837000-63859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:63837200-63840000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:63837200-63847600	Weak transcription	NHDF-Ad	bronchial
49	chr14:63837400-63840000	Weak transcription	Dnd41	blood
50	chr14:63837400-63841000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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