Variant report

Variant	rs62115489
Chromosome Location	chr19:44578585-44578586
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	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:
2	chr19:44543112..44545295-chr19:44576568..44579333,2	K562	blood:

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1996408	0.82[ASN][1000 genomes]
rs3810406	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4433920	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4482396	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803667	0.82[ASN][1000 genomes]
rs4803669	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803673	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803675	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55771992	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55812285	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56149185	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56182773	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56317065	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56320525	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62115482	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115484	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62115511	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62115513	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62119176	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6509138	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7246834	0.84[AMR][1000 genomes]
rs7254261	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254907	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255145	0.82[ASN][1000 genomes]
rs7255512	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255701	0.90[EUR][1000 genomes]
rs7258517	0.83[ASN][1000 genomes]
rs7260075	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73037629	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8104437	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8104605	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8104802	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8105315	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8105574	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44581600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:44577000-44581800	Weak transcription	Lung	lung
3	chr19:44577000-44585000	Weak transcription	Pancreas	Pancrea
4	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44577200-44581200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:44577200-44581400	Weak transcription	Fetal Intestine Large	intestine
7	chr19:44577200-44584200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:44577200-44584800	Weak transcription	Right Ventricle	heart
9	chr19:44577200-44585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:44577200-44585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:44577200-44585000	Weak transcription	Colonic Mucosa	Colon
12	chr19:44577200-44585000	Weak transcription	Esophagus	oesophagus
13	chr19:44577200-44586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44577200-44586200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:44577200-44586200	Weak transcription	HUVEC	blood vessel
16	chr19:44577200-44588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:44577200-44588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:44577200-44590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:44577400-44578800	Weak transcription	Right Atrium	heart
21	chr19:44577400-44580600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:44577400-44581000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:44577400-44581000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr19:44577400-44581400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr19:44577400-44581400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:44577400-44582000	Weak transcription	Fetal Intestine Small	intestine
27	chr19:44577400-44582000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:44577400-44582600	Weak transcription	Left Ventricle	heart
29	chr19:44577400-44582600	Weak transcription	Osteobl	bone
30	chr19:44577400-44583000	Weak transcription	Primary T cells from cord blood	blood
31	chr19:44577400-44584200	Weak transcription	Aorta	Aorta
32	chr19:44577400-44584200	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:44577400-44584200	Weak transcription	Fetal Thymus	thymus
34	chr19:44577400-44584200	Weak transcription	Ovary	ovary
35	chr19:44577400-44584200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:44577400-44584200	Weak transcription	Spleen	Spleen
37	chr19:44577400-44584800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr19:44577400-44584800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:44577400-44584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:44577400-44584800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:44577400-44584800	Weak transcription	Brain Angular Gyrus	brain
42	chr19:44577400-44584800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:44577400-44584800	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:44577400-44585000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:44577400-44585000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:44577400-44585000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:44577400-44585000	Weak transcription	Small Intestine	intestine
48	chr19:44577400-44585200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:44577400-44586200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:44577400-44586400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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