Variant report

Variant	rs73272530
Chromosome Location	chr14:63847081-63847082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17101134	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824943	0.92[AMR][1000 genomes]
rs2356514	0.80[AMR][1000 genomes]
rs3742626	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783746	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813412	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551962	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272512	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272537	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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

No data

Chromatin state (count:124 , 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	chr14:63829400-63848000	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
4	chr14:63829600-63850600	Weak transcription	Pancreas	Pancrea
5	chr14:63829800-63850800	Weak transcription	Aorta	Aorta
6	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
7	chr14:63832000-63847400	Weak transcription	NH-A	brain
8	chr14:63833600-63847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:63835000-63848400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63835200-63847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:63835200-63848000	Weak transcription	Fetal Brain Female	brain
13	chr14:63835200-63848400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:63835800-63847400	Weak transcription	NHLF	lung
15	chr14:63836000-63847400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:63836000-63847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:63836000-63847600	Weak transcription	HSMM	muscle
18	chr14:63836400-63848400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:63837000-63859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:63837200-63847600	Weak transcription	NHDF-Ad	bronchial
21	chr14:63837400-63847600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:63837800-63847200	Weak transcription	HSMMtube	muscle
23	chr14:63837800-63847600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:63837800-63847600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:63837800-63848200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:63837800-63848200	Weak transcription	Ovary	ovary
27	chr14:63837800-63850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:63837800-63850600	Weak transcription	Esophagus	oesophagus
29	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
30	chr14:63838200-63847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:63838200-63847600	Weak transcription	HMEC	breast
32	chr14:63838200-63847800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:63838400-63848600	Weak transcription	Colonic Mucosa	Colon
34	chr14:63838400-63850600	Weak transcription	Gastric	stomach
35	chr14:63838600-63847400	Weak transcription	Osteobl	bone
36	chr14:63838600-63847600	Weak transcription	Fetal Kidney	kidney
37	chr14:63838800-63847400	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:63838800-63847600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:63838800-63848800	Weak transcription	Lung	lung
40	chr14:63839400-63848200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:63839400-63862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:63839800-63847600	Weak transcription	Fetal Brain Male	brain
43	chr14:63840000-63864000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr14:63840600-63847600	Weak transcription	Placenta	Placenta
45	chr14:63840800-63847600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:63840800-63850800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:63841200-63847600	Weak transcription	HepG2	liver
48	chr14:63841200-63848400	Weak transcription	K562	blood
49	chr14:63841200-63848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:63841200-63852400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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