Variant report

Variant	rs7246762
Chromosome Location	chr19:37912802-37912803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11666699	1.00[ASN][1000 genomes]
rs11667497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667866	1.00[ASN][1000 genomes]
rs11668217	1.00[ASN][1000 genomes]
rs11669502	1.00[ASN][1000 genomes]
rs11671057	1.00[ASN][1000 genomes]
rs11671358	1.00[ASN][1000 genomes]
rs11671510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672064	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs16973488	1.00[ASN][1000 genomes]
rs35895160	1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs6508730	1.00[ASN][1000 genomes]
rs6508731	1.00[ASN][1000 genomes]
rs7245717	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257174	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7259754	0.81[AFR][1000 genomes]
rs8103087	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104809	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108658	1.00[ASN][1000 genomes]
rs8108739	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong 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	13 gene(s)	inside rSNPs	diseases
5	nsv579465	chr19:37868552-37917692	ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv963044	chr19:37893588-37916743	ZNF genes & repeats Weak transcription Strong transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers 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	15 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	chr19:37898000-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
3	chr19:37899200-37918800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:37900200-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:37903200-37925000	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr19:37903200-37927200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:37903200-37936600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37903400-37936400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37905200-37913000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:37906400-37913000	ZNF genes & repeats	Aorta	Aorta
11	chr19:37906400-37914000	ZNF genes & repeats	Left Ventricle	heart
12	chr19:37906600-37913800	ZNF genes & repeats	Ovary	ovary
13	chr19:37906600-37913800	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr19:37906800-37915400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:37906800-37918000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37906800-37927000	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:37906800-37936600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:37907600-37925000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:37907600-37926600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr19:37907800-37915600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:37907800-37926000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:37908000-37913800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr19:37909200-37919400	ZNF genes & repeats	Fetal Lung	lung
24	chr19:37910600-37925000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:37911000-37913600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:37911000-37913800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:37911000-37915600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
29	chr19:37911000-37926400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr19:37911000-37927000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr19:37911200-37913200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr19:37911200-37913400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr19:37911200-37913600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
34	chr19:37911200-37913800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr19:37911200-37913800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:37911200-37913800	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr19:37911200-37913800	ZNF genes & repeats	Fetal Brain Male	brain
38	chr19:37911200-37913800	ZNF genes & repeats	Fetal Kidney	kidney
39	chr19:37911200-37913800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
40	chr19:37911200-37913800	ZNF genes & repeats	A549	lung
41	chr19:37911200-37914000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
42	chr19:37911200-37915200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:37911200-37915400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:37911200-37915400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:37911200-37915400	ZNF genes & repeats	Brain Anterior Caudate	brain
46	chr19:37911200-37919000	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr19:37911200-37925000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:37911200-37926600	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr19:37911200-37927000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr19:37911200-37927000	ZNF genes & repeats	Dnd41	blood

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