Variant report

Variant	rs73607647
Chromosome Location	chr19:37293157-37293158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs57080651	1.00[AMR][1000 genomes]
rs57231148	1.00[AMR][1000 genomes]
rs58378903	1.00[AMR][1000 genomes]
rs58409556	1.00[AMR][1000 genomes]
rs58948692	1.00[AMR][1000 genomes]
rs59197853	1.00[AMR][1000 genomes]
rs59447056	1.00[AMR][1000 genomes]
rs59677148	1.00[AMR][1000 genomes]
rs60418129	1.00[AMR][1000 genomes]
rs60561021	1.00[AMR][1000 genomes]
rs61354972	1.00[AMR][1000 genomes]
rs73607662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607672	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607677	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607681	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73614169	1.00[AMR][1000 genomes]
rs73614181	1.00[AMR][1000 genomes]
rs73618496	1.00[AMR][1000 genomes]
rs73620004	1.00[AMR][1000 genomes]
rs73620013	1.00[AMR][1000 genomes]
rs73621705	1.00[AMR][1000 genomes]
rs73621760	1.00[AMR][1000 genomes]
rs73623522	1.00[AMR][1000 genomes]
rs73623524	1.00[AMR][1000 genomes]
rs73623526	1.00[AMR][1000 genomes]
rs73623563	1.00[AMR][1000 genomes]
rs73623564	1.00[AMR][1000 genomes]
rs73623569	1.00[AMR][1000 genomes]
rs73626748	1.00[AMR][1000 genomes]
rs73626755	1.00[AMR][1000 genomes]
rs73626758	1.00[AMR][1000 genomes]
rs73626762	1.00[AMR][1000 genomes]
rs73626765	1.00[AMR][1000 genomes]
rs73626768	1.00[AMR][1000 genomes]
rs73628736	1.00[AMR][1000 genomes]
rs73628740	1.00[AMR][1000 genomes]
rs73628744	1.00[AMR][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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer 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 target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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 target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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 target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking 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 target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv963042	chr19:37271305-37296858	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
16	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
19	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
21	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37287400-37327400	ZNF genes & repeats	Liver	Liver
2	chr19:37287800-37294800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:37289000-37293600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:37289000-37293600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:37289000-37295000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:37289000-37296400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:37289000-37309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:37289200-37300600	Weak transcription	Right Ventricle	heart
9	chr19:37289200-37301600	Weak transcription	HSMMtube	muscle
10	chr19:37289200-37327000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37289400-37293800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:37289400-37295400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:37289400-37295600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr19:37289400-37327600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:37289600-37294000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
16	chr19:37289600-37294400	ZNF genes & repeats	Fetal Lung	lung
17	chr19:37289600-37294800	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:37289600-37296800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:37289600-37301000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:37289600-37327400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:37289600-37327400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:37289800-37295000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr19:37289800-37295400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:37289800-37297600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:37290000-37301800	Weak transcription	Fetal Heart	heart
28	chr19:37290200-37293600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:37290200-37293600	Weak transcription	Fetal Brain Male	brain
30	chr19:37290200-37295400	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr19:37290200-37295400	Strong transcription	Left Ventricle	heart
32	chr19:37290400-37293800	Weak transcription	NHLF	lung
33	chr19:37290400-37294800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:37290600-37293200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr19:37290600-37293400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:37290600-37293600	Weak transcription	HSMM	muscle
37	chr19:37290800-37293600	Weak transcription	Brain Anterior Caudate	brain
38	chr19:37290800-37295600	ZNF genes & repeats	Fetal Stomach	stomach
39	chr19:37290800-37297200	Weak transcription	Stomach Mucosa	stomach
40	chr19:37291000-37293400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:37291000-37293600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:37291000-37298200	Weak transcription	NHDF-Ad	bronchial
43	chr19:37291200-37293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:37291200-37294600	Weak transcription	Brain Substantia Nigra	brain
45	chr19:37291200-37295400	Weak transcription	Dnd41	blood
46	chr19:37291600-37293600	Strong transcription	Pancreatic Islets	Pancreatic Islet
47	chr19:37291600-37294800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr19:37291600-37298800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:37291800-37293200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:37291800-37293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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