Variant report

Variant	rs36045507
Chromosome Location	chr19:19505105-19505106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19499586..19501861-chr19:19503072..19505827,3	K562	blood:
2	chr19:19502977..19506681-chr19:19513070..19516267,3	MCF-7	breast:
3	chr19:19485841..19488416-chr19:19504636..19506140,2	K562	blood:
4	chr19:19495579..19499237-chr19:19499394..19505586,7	K562	blood:
5	chr19:19500069..19502358-chr19:19504221..19506557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction
ENSG00000267234	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28713238	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794992	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45631650	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57653580	0.89[AMR][1000 genomes]
rs7250312	0.89[AMR][1000 genomes]
rs8102280	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19498000-19505400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:19498000-19505600	Weak transcription	Gastric	stomach
4	chr19:19498000-19506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:19498000-19510400	Weak transcription	A549	lung
6	chr19:19498000-19510400	Weak transcription	NHDF-Ad	bronchial
7	chr19:19498000-19515600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:19498200-19505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:19498200-19510400	Weak transcription	Fetal Stomach	stomach
10	chr19:19498400-19513600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:19498800-19506800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr19:19499600-19505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:19499600-19507000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:19499600-19507400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr19:19499800-19505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19499800-19505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:19499800-19506800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:19499800-19510400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19500200-19505600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:19500200-19505600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:19500200-19506400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:19500200-19510400	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:19500400-19505400	Weak transcription	Hela-S3	cervix
24	chr19:19500400-19505600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:19500400-19505600	Weak transcription	NHLF	lung
26	chr19:19500400-19506800	Enhancers	Primary T cells from cord blood	blood
27	chr19:19500400-19509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:19500400-19515400	Weak transcription	Fetal Heart	heart
29	chr19:19500600-19505400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:19500600-19505400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:19500600-19505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:19500600-19510400	Weak transcription	Fetal Kidney	kidney
33	chr19:19500600-19515800	Weak transcription	Right Ventricle	heart
34	chr19:19501000-19505200	Weak transcription	Small Intestine	intestine
35	chr19:19501200-19514000	Weak transcription	Pancreas	Pancrea
36	chr19:19501400-19505400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:19501400-19505400	Weak transcription	HMEC	breast
38	chr19:19501400-19505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:19501400-19505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:19501400-19505800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:19501400-19511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:19501400-19513600	Weak transcription	Psoas Muscle	Psoas
43	chr19:19501400-19513800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:19501600-19505600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr19:19501600-19505800	Weak transcription	Liver	Liver
46	chr19:19501600-19506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:19501800-19505400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:19501800-19506000	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:19501800-19506400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:19501800-19510800	Weak transcription	Brain Substantia Nigra	brain

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