Variant report

Variant	rs62461515
Chromosome Location	chr7:63991712-63991713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10240728	0.81[ASN][1000 genomes]
rs11981770	0.85[ASN][1000 genomes]
rs17852813	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862792	0.89[ASN][1000 genomes]
rs62461493	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461501	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461503	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62461504	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62461505	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461507	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461510	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62461512	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461513	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461516	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62461517	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461522	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461525	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62461527	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62461528	0.81[AMR][1000 genomes]
rs62461555	0.82[ASN][1000 genomes]
rs62461556	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62461557	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944158	0.90[ASN][1000 genomes]
rs7784802	0.89[ASN][1000 genomes]
rs7806596	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
10	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
11	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
16	nsv888272	chr7:63973216-64004876	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1833009	chr7:63980233-64002859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
19	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
20	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63964600-63997800	ZNF genes & repeats	Liver	Liver
2	chr7:63965000-63994800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:63966200-63997400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:63982000-64001800	Weak transcription	NH-A	brain
7	chr7:63984400-63992800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:63984600-63994600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr7:63986600-63998600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr7:63986600-64001800	Weak transcription	Fetal Heart	heart
11	chr7:63986800-63992200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr7:63987400-63992000	Weak transcription	NHLF	lung
13	chr7:63987800-64000200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr7:63988000-63991800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr7:63988000-63991800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:63988000-63992200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr7:63988400-63996600	Weak transcription	HSMMtube	muscle
18	chr7:63988400-64011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:63988600-63993200	Weak transcription	Psoas Muscle	Psoas
20	chr7:63988600-63996000	Weak transcription	Osteobl	bone
21	chr7:63988600-64002000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:63988800-63996400	Weak transcription	Hela-S3	cervix
23	chr7:63989000-63996600	Weak transcription	HepG2	liver
24	chr7:63989000-64009800	Weak transcription	K562	blood
25	chr7:63989200-63997200	Weak transcription	Left Ventricle	heart
26	chr7:63989200-64001800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:63989200-64003200	Weak transcription	Placenta	Placenta
28	chr7:63989200-64005400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:63989200-64007600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:63989200-64011600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:63989200-64022600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:63989400-63992200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:63989400-63994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:63989400-63996200	Weak transcription	Esophagus	oesophagus
35	chr7:63989400-63996800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:63989400-64000000	Weak transcription	Ovary	ovary
37	chr7:63989400-64019400	Weak transcription	HUVEC	blood vessel
38	chr7:63989400-64023000	Weak transcription	Gastric	stomach
39	chr7:63989600-63992400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:63989600-63994800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:63989600-63995600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:63989600-63995600	Weak transcription	Thymus	Thymus
43	chr7:63989600-63996000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:63989600-63996600	Weak transcription	Aorta	Aorta
45	chr7:63989600-63996800	Weak transcription	Pancreas	Pancrea
46	chr7:63989600-64001800	Weak transcription	Brain Anterior Caudate	brain
47	chr7:63989600-64001800	Weak transcription	Right Ventricle	heart
48	chr7:63989600-64002000	Weak transcription	Spleen	Spleen
49	chr7:63989600-64002200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:63989600-64003800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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