Variant report

Variant	rs62455806
Chromosome Location	chr7:64161901-64161902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10225733	0.80[EUR][1000 genomes]
rs10276515	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17138801	0.81[AMR][1000 genomes]
rs17779194	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17779236	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55990963	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61739917	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455812	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62455820	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62455822	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455823	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62455845	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455846	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455848	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62455853	1.00[AFR][1000 genomes]
rs62460663	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460664	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460665	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460667	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62460668	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460669	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460670	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62460673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461559	0.81[AMR][1000 genomes]
rs62461716	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62461717	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62461720	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62461722	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62462860	0.81[AMR][1000 genomes]
rs62462863	0.81[AMR][1000 genomes]
rs62462864	0.81[AMR][1000 genomes]
rs62462865	0.81[AMR][1000 genomes]
rs62462867	0.81[AMR][1000 genomes]
rs62462868	0.81[AMR][1000 genomes]
rs62462869	0.81[AMR][1000 genomes]
rs62462870	0.81[AMR][1000 genomes]
rs62462874	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62462875	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62462876	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62462877	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62462912	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62462915	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62462916	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv16290	chr7:64058602-64162829	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
15	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64128200-64167600	Weak transcription	Hela-S3	cervix
2	chr7:64128200-64168000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:64128800-64168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:64138600-64162200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:64138600-64168400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:64143800-64167000	Weak transcription	Fetal Heart	heart
7	chr7:64145400-64166800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:64145600-64163000	Weak transcription	Right Ventricle	heart
9	chr7:64146000-64167000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:64146400-64166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:64146600-64166200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:64146800-64163200	Weak transcription	Gastric	stomach
13	chr7:64146800-64167000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:64148000-64162800	Weak transcription	HepG2	liver
15	chr7:64148000-64163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:64150200-64166200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:64150400-64166800	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:64153800-64168000	ZNF genes & repeats	Dnd41	blood
19	chr7:64153800-64170200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr7:64154800-64164800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:64155000-64169600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr7:64155000-64170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr7:64155600-64162400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:64155800-64168000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr7:64156800-64162400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr7:64156800-64164800	Weak transcription	Aorta	Aorta
27	chr7:64157000-64163800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:64158000-64163400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr7:64158200-64162200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr7:64158200-64162400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:64158200-64167600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:64158400-64162000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr7:64158400-64162000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr7:64158400-64162400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:64158400-64162400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr7:64158800-64162200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:64159000-64162200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr7:64159000-64171400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:64159600-64162200	ZNF genes & repeats	Liver	Liver
40	chr7:64159600-64170600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:64159800-64162200	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr7:64159800-64162200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr7:64159800-64162200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr7:64159800-64162200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr7:64159800-64163200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr7:64159800-64168000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr7:64160000-64163000	Weak transcription	Pancreas	Pancrea
48	chr7:64160000-64163000	Weak transcription	HMEC	breast
49	chr7:64160000-64163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:64160200-64163600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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