Variant report

Variant	rs73528412
Chromosome Location	chr19:19492558-19492559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19490798..19493427-chr19:19502651..19505000,2	K562	blood:
2	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
3	chr19:19491648..19493907-chr19:19494746..19496356,2	MCF-7	breast:
4	chr19:19492400..19494555-chr19:19586147..19589015,3	MCF-7	breast:
5	chr19:19483095..19487397-chr19:19491404..19494790,5	K562	blood:
6	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
7	chr19:19483132..19485532-chr19:19492429..19494779,2	K562	blood:

Variant related genes	Relation type
ENSG00000267234	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635681	1.00[AMR][1000 genomes]
rs61418834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537224	0.86[AFR][1000 genomes]
rs73539469	1.00[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	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19478800-19495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19482600-19493200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:19486400-19495400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr19:19486400-19495600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:19488800-19492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:19488800-19495400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:19488800-19495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:19488800-19495400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:19488800-19495400	Weak transcription	Fetal Muscle Leg	muscle
10	chr19:19488800-19495400	Weak transcription	Gastric	stomach
11	chr19:19489000-19492800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:19489000-19495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:19489000-19495200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:19489000-19495200	Weak transcription	A549	lung
15	chr19:19489000-19495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:19489000-19495400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:19489000-19495400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:19489000-19495400	Weak transcription	Adipose Nuclei	Adipose
19	chr19:19489000-19495400	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:19489000-19495400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:19489000-19495400	Weak transcription	Hela-S3	cervix
22	chr19:19489000-19495400	Weak transcription	Osteobl	bone
23	chr19:19489000-19495600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:19489000-19495600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:19489000-19495600	Weak transcription	Fetal Lung	lung
26	chr19:19489200-19494800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:19489200-19495200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:19489200-19495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:19489200-19495400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:19489200-19495400	Weak transcription	NHEK	skin
31	chr19:19489200-19495600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:19489200-19495600	Weak transcription	HMEC	breast
33	chr19:19489200-19496000	Weak transcription	Spleen	Spleen
34	chr19:19489400-19495600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:19489600-19492800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr19:19489800-19493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:19489800-19495200	Weak transcription	Fetal Heart	heart
38	chr19:19490800-19495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:19490800-19495600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:19491000-19495400	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:19491200-19495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:19491400-19494800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:19491600-19493200	Enhancers	Stomach Mucosa	stomach
44	chr19:19491800-19492600	Enhancers	Small Intestine	intestine
45	chr19:19491800-19492600	Enhancers	HUVEC	blood vessel
46	chr19:19491800-19493000	Enhancers	GM12878-XiMat	blood
47	chr19:19491800-19493000	Enhancers	HepG2	liver
48	chr19:19491800-19493200	Enhancers	Esophagus	oesophagus
49	chr19:19491800-19493200	Enhancers	Pancreas	Pancrea
50	chr19:19492000-19492600	Enhancers	Brain Substantia Nigra	brain

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