Variant report

Variant	rs72798647
Chromosome Location	chr16:74964089-74964090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1024503	1.00[ASN][1000 genomes]
rs10514386	1.00[ASN][1000 genomes]
rs11863300	1.00[ASN][1000 genomes]
rs11864313	1.00[ASN][1000 genomes]
rs11864349	1.00[ASN][1000 genomes]
rs11866550	1.00[ASN][1000 genomes]
rs12444618	1.00[ASN][1000 genomes]
rs12445200	1.00[ASN][1000 genomes]
rs12446147	1.00[ASN][1000 genomes]
rs12447968	1.00[ASN][1000 genomes]
rs14308	1.00[ASN][1000 genomes]
rs28810133	1.00[ASN][1000 genomes]
rs4887788	1.00[ASN][1000 genomes]
rs4888307	1.00[ASN][1000 genomes]
rs4985359	1.00[ASN][1000 genomes]
rs55727944	1.00[ASN][1000 genomes]
rs55836977	1.00[ASN][1000 genomes]
rs55859029	1.00[ASN][1000 genomes]
rs56009261	1.00[ASN][1000 genomes]
rs56313952	1.00[ASN][1000 genomes]
rs58303079	1.00[ASN][1000 genomes]
rs62052860	1.00[ASN][1000 genomes]
rs62052861	1.00[ASN][1000 genomes]
rs7203228	1.00[ASN][1000 genomes]
rs72794783	1.00[ASN][1000 genomes]
rs72796668	1.00[ASN][1000 genomes]
rs72796671	1.00[ASN][1000 genomes]
rs72796672	1.00[ASN][1000 genomes]
rs72796678	1.00[ASN][1000 genomes]
rs72796696	1.00[ASN][1000 genomes]
rs72798603	1.00[ASN][1000 genomes]
rs72798608	1.00[ASN][1000 genomes]
rs72798613	1.00[ASN][1000 genomes]
rs72798621	1.00[ASN][1000 genomes]
rs72798641	0.83[EUR][1000 genomes]
rs72798648	1.00[ASN][1000 genomes]
rs72798683	1.00[ASN][1000 genomes]
rs72798700	1.00[ASN][1000 genomes]
rs74024565	1.00[ASN][1000 genomes]
rs8047659	1.00[ASN][1000 genomes]
rs8062012	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
12	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74947800-74967800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:74948400-74985800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:74949000-74980800	Weak transcription	Hela-S3	cervix
5	chr16:74949200-74971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:74950200-74975600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:74950200-74975600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:74950400-74966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:74951000-74977600	Weak transcription	Fetal Brain Male	brain
10	chr16:74951400-74966400	Weak transcription	Brain Angular Gyrus	brain
11	chr16:74951400-74970800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:74952000-74965400	Weak transcription	Aorta	Aorta
13	chr16:74952600-74977600	Weak transcription	NHDF-Ad	bronchial
14	chr16:74952800-74971600	Weak transcription	NH-A	brain
15	chr16:74953600-74966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:74955800-74970200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:74955800-74970800	Weak transcription	A549	lung
18	chr16:74955800-74971000	Weak transcription	NHLF	lung
19	chr16:74956000-74965600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:74956000-74966800	Weak transcription	HUVEC	blood vessel
21	chr16:74956000-74970400	Weak transcription	Ovary	ovary
22	chr16:74956000-74970800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:74956000-74970800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:74956000-74971000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:74956000-74971400	Weak transcription	Esophagus	oesophagus
26	chr16:74956000-74972400	Weak transcription	Gastric	stomach
27	chr16:74956000-74975800	Weak transcription	K562	blood
28	chr16:74956200-74975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:74956200-74988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:74956400-74971000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr16:74956400-74971200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:74956400-74971400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:74956400-74977000	Weak transcription	Psoas Muscle	Psoas
34	chr16:74956600-74966000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:74956600-74971000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:74956600-74971200	Weak transcription	Right Ventricle	heart
37	chr16:74956600-74971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:74956600-74981800	Weak transcription	Small Intestine	intestine
39	chr16:74956800-74965400	Weak transcription	Lung	lung
40	chr16:74956800-74965400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:74956800-74965600	Weak transcription	Brain Germinal Matrix	brain
42	chr16:74956800-74966600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:74956800-74970800	Weak transcription	Brain Anterior Caudate	brain
44	chr16:74956800-74971000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr16:74957000-74966200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:74957000-74971200	Weak transcription	Colonic Mucosa	Colon
47	chr16:74957000-74971800	Weak transcription	Spleen	Spleen
48	chr16:74957000-74991600	Weak transcription	Stomach Mucosa	stomach
49	chr16:74957200-74970200	Weak transcription	NHEK	skin
50	chr16:74957200-74970400	Weak transcription	Brain Inferior Temporal Lobe	brain

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