Variant report

Variant	rs4803697
Chromosome Location	chr19:44848073-44848074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44841145..44843332-chr19:44846743..44848513,2	K562	blood:
2	chr19:44846057..44848981-chr19:44852585..44854533,2	MCF-7	breast:
3	chr19:44847055..44849987-chr19:44852679..44854366,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1011567	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11670157	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671074	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12151072	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12972550	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12981298	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1434575	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434576	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014501	0.87[ASN][1000 genomes]
rs2196184	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196186	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67711424	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251134	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252577	0.86[ASN][1000 genomes]
rs7256402	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733265	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8104642	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9676368	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984117	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44828600-44848800	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:44828600-44851000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44830800-44850400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44832000-44848200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44837400-44851000	ZNF genes & repeats	Ovary	ovary
7	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
8	chr19:44842800-44850200	Weak transcription	Fetal Heart	heart
9	chr19:44843000-44848800	ZNF genes & repeats	Fetal Stomach	stomach
10	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44844200-44859800	Weak transcription	Osteobl	bone
12	chr19:44844600-44848600	Weak transcription	Brain Substantia Nigra	brain
13	chr19:44844800-44848600	Weak transcription	Left Ventricle	heart
14	chr19:44844800-44851000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:44844800-44853000	Weak transcription	HSMMtube	muscle
16	chr19:44845000-44848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:44845000-44848600	Weak transcription	Brain Anterior Caudate	brain
18	chr19:44845000-44850200	Weak transcription	NH-A	brain
19	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:44845200-44849000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:44845200-44860000	Weak transcription	HSMM	muscle
22	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:44846200-44848400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:44846200-44848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:44846200-44849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:44846600-44849200	Weak transcription	Brain Germinal Matrix	brain
27	chr19:44846600-44849200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr19:44847000-44848200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:44847000-44853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:44847200-44848200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:44847200-44849000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:44847200-44850600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr19:44847400-44848200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:44847400-44848400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:44847400-44848600	Enhancers	Primary B cells from cord blood	blood
36	chr19:44847400-44848800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:44847400-44848800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:44847400-44848800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
39	chr19:44847400-44849000	Strong transcription	Brain Angular Gyrus	brain
40	chr19:44847400-44849000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr19:44847400-44849600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:44847400-44849600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:44847400-44849800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:44847400-44850000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:44847400-44850400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:44847400-44851400	ZNF genes & repeats	Aorta	Aorta
47	chr19:44847400-44855200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr19:44847600-44848400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr19:44847600-44848600	ZNF genes & repeats	Gastric	stomach
50	chr19:44847600-44849000	Enhancers	Primary B cells from peripheral blood	blood

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