Variant report

Variant	rs984117
Chromosome Location	chr19:44847800-44847801
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011567	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11670157	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11671074	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12151072	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12461251	0.93[CEU][hapmap]
rs12972550	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12981298	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1434575	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1434576	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897826	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014501	0.89[ASN][1000 genomes]
rs2051058	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2196184	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2196186	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2196187	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356881	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4592768	0.84[EUR][1000 genomes]
rs4802217	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4803697	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67711424	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7251134	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252577	0.88[ASN][1000 genomes]
rs7256402	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs733265	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7508523	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8104642	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105073	0.83[JPT][hapmap]
rs8109706	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9676368	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[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:75 , 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	chr19:44845200-44848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:44845200-44849000	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:44845200-44860000	Weak transcription	HSMM	muscle
23	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:44846200-44848400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:44846200-44848400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:44846200-44849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:44846400-44848000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:44846600-44849200	Weak transcription	Brain Germinal Matrix	brain
29	chr19:44846600-44849200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr19:44847000-44848200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44847000-44853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:44847200-44847800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44847200-44847800	ZNF genes & repeats	Fetal Lung	lung
34	chr19:44847200-44847800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:44847200-44848200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:44847200-44849000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:44847200-44850600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr19:44847400-44847800	ZNF genes & repeats	Colonic Mucosa	Colon
39	chr19:44847400-44847800	ZNF genes & repeats	Esophagus	oesophagus
40	chr19:44847400-44847800	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr19:44847400-44847800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:44847400-44847800	Enhancers	Right Ventricle	heart
43	chr19:44847400-44848000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:44847400-44848000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:44847400-44848000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:44847400-44848000	ZNF genes & repeats	Fetal Brain Male	brain
47	chr19:44847400-44848200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44847400-44848400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:44847400-44848600	Enhancers	Primary B cells from cord blood	blood
50	chr19:44847400-44848800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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