Variant report

Variant	rs73922890
Chromosome Location	chr19:19598997-19598998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19495951..19498797-chr19:19597041..19601081,5	MCF-7	breast:
2	chr19:19494423..19498562-chr19:19598797..19601166,4	MCF-7	breast:
3	chr19:19590124..19591949-chr19:19596092..19599221,4	K562	blood:
4	chr19:19570132..19572642-chr19:19597884..19599709,3	K562	blood:
5	chr19:19587338..19590282-chr19:19595416..19599165,3	MCF-7	breast:
6	chr19:19514390..19517694-chr19:19598526..19603373,7	K562	blood:
7	chr19:19597981..19601922-chr19:19625758..19628730,4	K562	blood:
8	chr19:19514543..19521149-chr19:19597604..19603543,11	MCF-7	breast:
9	chr19:19430445..19433182-chr19:19596192..19599551,3	MCF-7	breast:
10	chr19:19475888..19481380-chr19:19598435..19602231,6	MCF-7	breast:
11	chr19:19516406..19519425-chr19:19597081..19600635,4	MCF-7	breast:
12	chr19:19513509..19518475-chr19:19595979..19603373,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186010	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10401822	1.00[AMR][1000 genomes]
rs10403737	1.00[AMR][1000 genomes]
rs10405475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412351	0.94[AFR][1000 genomes]
rs10413582	1.00[AMR][1000 genomes]
rs10416335	1.00[AMR][1000 genomes]
rs10421166	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423535	1.00[AMR][1000 genomes]
rs10425164	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10425574	1.00[AMR][1000 genomes]
rs13344439	0.89[AMR][1000 genomes]
rs16996102	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60455087	0.89[AMR][1000 genomes]
rs73922887	1.00[AMR][1000 genomes]
rs73922895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922896	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9304961	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
4	chr19:19584200-19600000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:19587000-19599000	Weak transcription	Brain Germinal Matrix	brain
6	chr19:19587000-19599200	Weak transcription	Fetal Brain Female	brain
7	chr19:19587200-19599600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:19588800-19599200	Weak transcription	Hela-S3	cervix
9	chr19:19590400-19599400	Genic enhancers	Fetal Thymus	thymus
10	chr19:19592000-19599200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:19592400-19600000	Weak transcription	Aorta	Aorta
12	chr19:19594800-19599000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:19595000-19601400	Enhancers	Fetal Lung	lung
14	chr19:19595200-19601600	Enhancers	Placenta	Placenta
15	chr19:19595600-19599000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:19595600-19599600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr19:19595600-19599600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:19595800-19599200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:19595800-19599800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:19595800-19601200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr19:19595800-19601400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:19595800-19601400	Genic enhancers	Fetal Intestine Small	intestine
23	chr19:19596000-19600400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr19:19596200-19599000	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:19596200-19599600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:19596400-19599000	Weak transcription	Adipose Nuclei	Adipose
27	chr19:19596600-19599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:19596600-19599400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:19596600-19599400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:19596600-19600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:19596600-19601400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr19:19596800-19599000	Weak transcription	Osteobl	bone
33	chr19:19596800-19599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:19596800-19601400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:19596800-19601800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:19597000-19599400	Genic enhancers	NHEK	skin
37	chr19:19597000-19601200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:19597200-19599000	Genic enhancers	HepG2	liver
39	chr19:19597200-19599400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr19:19597200-19599400	Enhancers	Liver	Liver
41	chr19:19597200-19601200	Enhancers	HMEC	breast
42	chr19:19597200-19601400	Enhancers	Pancreas	Pancrea
43	chr19:19597400-19599200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:19597400-19600000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr19:19597400-19601400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:19597600-19599200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:19597600-19599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19597600-19599600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:19597600-19599600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:19597600-19601400	Enhancers	Placenta Amnion	Placenta Amnion

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