Variant report

Variant	rs61635147
Chromosome Location	chr19:56978298-56978299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11670383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11670940	0.83[EUR][1000 genomes]
rs11672348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11672698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11878971	0.81[EUR][1000 genomes]
rs11883053	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1344093	0.83[EUR][1000 genomes]
rs55634464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55887007	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55905716	0.91[EUR][1000 genomes]
rs56163051	0.91[EUR][1000 genomes]
rs56281826	0.91[EUR][1000 genomes]
rs56342533	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56790623	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56805916	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60020666	0.85[AMR][1000 genomes]
rs60471512	0.85[AMR][1000 genomes]
rs61740673	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61743722	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56957200-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:56966400-56979800	ZNF genes & repeats	Ovary	ovary
6	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
7	chr19:56969400-56987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:56970200-56981400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:56972800-56987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:56973000-56981400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:56973000-56981600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:56973200-56981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:56973400-56981600	Weak transcription	Psoas Muscle	Psoas
14	chr19:56973400-56983600	Weak transcription	Dnd41	blood
15	chr19:56973600-56981800	Weak transcription	Left Ventricle	heart
16	chr19:56974000-56981000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:56974000-56981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:56974000-56981600	Weak transcription	Right Ventricle	heart
19	chr19:56975600-56978600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr19:56975600-56979600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr19:56975600-56985200	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr19:56975600-56987200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:56976400-56979800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:56976800-56987200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:56977000-56980000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:56977400-56981400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:56977600-56981000	Weak transcription	Brain Anterior Caudate	brain
28	chr19:56978000-56984400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr19:56978200-56978800	ZNF genes & repeats	Colonic Mucosa	Colon
30	chr19:56978200-56978800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr19:56978200-56979400	Weak transcription	Fetal Brain Male	brain

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