Variant report

Variant	rs73539469
Chromosome Location	chr19:19426349-19426350
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19421328..19423836-chr19:19425744..19428285,2	K562	blood:
2	chr19:19383714..19386060-chr19:19425012..19427870,3	K562	blood:
3	chr19:19417598..19419748-chr19:19425185..19428061,2	MCF-7	breast:
4	chr19:19424854..19427568-chr19:19431247..19433115,2	MCF-7	breast:
5	chr19:19423866..19426693-chr19:19428690..19430948,2	MCF-7	breast:
6	chr19:19420567..19423413-chr19:19425722..19427431,2	MCF-7	breast:
7	chr19:19424971..19429019-chr19:19429642..19432591,7	K562	blood:
8	chr19:19301690..19304194-chr19:19425927..19428019,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213996	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000064489	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	1.00[AMR][1000 genomes]
rs59432787	1.00[AMR][1000 genomes]
rs60542032	1.00[AMR][1000 genomes]
rs60635681	1.00[AMR][1000 genomes]
rs61418834	1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs6511025	1.00[AFR][1000 genomes]
rs7247854	1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532115	1.00[AMR][1000 genomes]
rs73532138	1.00[AMR][1000 genomes]
rs73532145	1.00[AMR][1000 genomes]
rs73532149	1.00[AMR][1000 genomes]
rs73532150	1.00[AMR][1000 genomes]
rs73532158	1.00[AMR][1000 genomes]
rs73537459	0.86[AFR][1000 genomes]
rs73539433	1.00[AFR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	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
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:19386800-19428400	Strong transcription	Fetal Intestine Small	intestine
4	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
6	chr19:19398000-19426800	Weak transcription	K562	blood
7	chr19:19402400-19427600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:19402400-19427800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:19402600-19427400	Strong transcription	Lung	lung
10	chr19:19402800-19427600	Strong transcription	Fetal Intestine Large	intestine
11	chr19:19402800-19428600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:19403000-19427800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:19403400-19427800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:19403400-19428600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr19:19403800-19428200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr19:19404000-19427600	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:19404200-19427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:19404200-19429000	Strong transcription	Fetal Stomach	stomach
19	chr19:19404600-19427600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:19404600-19427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:19404800-19428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:19405000-19427800	Strong transcription	Thymus	Thymus
23	chr19:19407000-19428200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:19408200-19428400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:19410800-19428400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr19:19410800-19428600	Strong transcription	Fetal Thymus	thymus
27	chr19:19411000-19427200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:19411000-19427800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr19:19411000-19428200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:19411200-19427400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:19411200-19427400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:19411200-19427400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:19411200-19427400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:19411200-19427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:19411200-19427400	Strong transcription	Liver	Liver
36	chr19:19411200-19427600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:19411200-19427600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:19411200-19427600	Strong transcription	Primary T cells from cord blood	blood
39	chr19:19411200-19427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:19411200-19427600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:19411200-19427800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr19:19411200-19427800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:19411200-19427800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19411200-19427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:19411200-19428200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:19411200-19428200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:19411200-19428400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:19411200-19428400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:19411400-19427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:19411400-19427400	Strong transcription	Gastric	stomach

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