Variant report

Variant	rs7260493
Chromosome Location	chr19:44584696-44584697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44583811..44585821-chr19:44587425..44590403,2	MCF-7	breast:
2	chr19:44583300..44585614-chr19:44596665..44599577,2	K562	blood:

Variant related genes	Relation type
ENSG00000253021	Chromatin interaction
ENSG00000267680	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11083731	1.00[EUR][1000 genomes]
rs11880006	1.00[EUR][1000 genomes]
rs11880958	1.00[EUR][1000 genomes]
rs55784929	1.00[EUR][1000 genomes]
rs56376181	1.00[EUR][1000 genomes]
rs56985355	1.00[EUR][1000 genomes]
rs59735455	1.00[EUR][1000 genomes]
rs60620675	1.00[EUR][1000 genomes]
rs61182068	1.00[EUR][1000 genomes]
rs73554150	1.00[EUR][1000 genomes]
rs73554151	1.00[EUR][1000 genomes]
rs73554153	1.00[EUR][1000 genomes]
rs73554156	1.00[EUR][1000 genomes]
rs73554158	1.00[EUR][1000 genomes]
rs73554172	1.00[EUR][1000 genomes]
rs73554176	1.00[EUR][1000 genomes]
rs73554181	1.00[EUR][1000 genomes]
rs73554183	1.00[EUR][1000 genomes]
rs73554199	1.00[EUR][1000 genomes]
rs73556203	1.00[EUR][1000 genomes]
rs73558261	0.87[AMR][1000 genomes];1.00[EUR][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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44585000	Weak transcription	Pancreas	Pancrea
2	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44577200-44584800	Weak transcription	Right Ventricle	heart
4	chr19:44577200-44585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:44577200-44585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:44577200-44585000	Weak transcription	Colonic Mucosa	Colon
7	chr19:44577200-44585000	Weak transcription	Esophagus	oesophagus
8	chr19:44577200-44586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44577200-44586200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:44577200-44586200	Weak transcription	HUVEC	blood vessel
11	chr19:44577200-44588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:44577200-44588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44577200-44590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:44577400-44584800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:44577400-44584800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:44577400-44584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:44577400-44584800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:44577400-44584800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:44577400-44584800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:44577400-44584800	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:44577400-44585000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:44577400-44585000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:44577400-44585000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:44577400-44585000	Weak transcription	Small Intestine	intestine
26	chr19:44577400-44585200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:44577400-44586200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:44577400-44586400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:44577400-44589200	Weak transcription	NH-A	brain
30	chr19:44577600-44584800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:44577600-44584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:44577600-44584800	Weak transcription	Brain Anterior Caudate	brain
33	chr19:44577600-44584800	Weak transcription	Brain Substantia Nigra	brain
34	chr19:44577600-44584800	Weak transcription	Placenta	Placenta
35	chr19:44577600-44584800	Weak transcription	Thymus	Thymus
36	chr19:44577600-44584800	Weak transcription	HSMMtube	muscle
37	chr19:44577600-44585000	Weak transcription	Gastric	stomach
38	chr19:44577600-44585000	Weak transcription	Psoas Muscle	Psoas
39	chr19:44577600-44585400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:44577600-44586000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:44577600-44586000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:44577600-44586000	Weak transcription	NHDF-Ad	bronchial
43	chr19:44577600-44586200	Weak transcription	Fetal Brain Male	brain
44	chr19:44577600-44586400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:44577600-44587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:44577600-44588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:44577600-44589800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:44577600-44597800	Weak transcription	HMEC	breast
49	chr19:44577800-44586400	Weak transcription	NHEK	skin
50	chr19:44577800-44586600	Weak transcription	HepG2	liver

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