Variant report

Variant	rs73530412
Chromosome Location	chr19:19558843-19558844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19521179..19523703-chr19:19556987..19559661,2	MCF-7	breast:
2	chr19:19555793..19560034-chr19:19567038..19569672,4	MCF-7	breast:
3	chr19:19497521..19500034-chr19:19556713..19558858,2	K562	blood:
4	chr19:19517137..19518642-chr19:19558154..19560322,2	K562	blood:
5	chr19:19558288..19561213-chr19:19569114..19571346,2	K562	blood:
6	chr19:19515791..19518099-chr19:19558390..19560327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	1.00[AMR][1000 genomes]
rs28808149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56786913	1.00[AMR][1000 genomes]
rs57321153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58179637	1.00[AMR][1000 genomes]
rs58210809	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]
rs7247854	1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	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]
rs73539469	1.00[AMR][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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19522200-19563400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19540200-19562600	Weak transcription	Fetal Intestine Large	intestine
3	chr19:19544400-19563400	Weak transcription	Fetal Kidney	kidney
4	chr19:19545400-19562200	Weak transcription	Brain Angular Gyrus	brain
5	chr19:19545600-19568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:19545800-19563400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:19545800-19568600	Weak transcription	Brain Substantia Nigra	brain
8	chr19:19545800-19570600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:19546000-19566600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:19546200-19569000	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:19550000-19562200	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:19550400-19562400	Weak transcription	A549	lung
13	chr19:19551000-19571200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19553000-19563000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:19553400-19562200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:19553400-19564400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:19553400-19564800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:19553800-19560200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:19554000-19559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:19554000-19560000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:19554000-19564000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:19554200-19559000	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:19554200-19564600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19554600-19559800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr19:19554800-19560000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:19555000-19559000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr19:19555000-19559000	Enhancers	Stomach Mucosa	stomach
28	chr19:19555000-19559000	Enhancers	NHDF-Ad	bronchial
29	chr19:19555000-19559200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:19555000-19559400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr19:19555200-19559000	Enhancers	NHLF	lung
32	chr19:19555200-19565800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19555400-19559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr19:19555400-19559000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr19:19555400-19559000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr19:19555400-19559000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr19:19555400-19559400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr19:19555800-19559000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:19556000-19562000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:19556000-19562000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr19:19556000-19567400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:19556200-19563000	Weak transcription	Aorta	Aorta
43	chr19:19556200-19567400	Weak transcription	Osteobl	bone
44	chr19:19556800-19559000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr19:19556800-19559000	Enhancers	Liver	Liver
46	chr19:19556800-19559800	Enhancers	Gastric	stomach
47	chr19:19557000-19559200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr19:19557200-19559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:19557200-19562200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:19557400-19559000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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