Variant report

Variant	rs7254907
Chromosome Location	chr19:44559853-44559854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10418363	0.83[ASN][1000 genomes]
rs11083732	0.83[ASN][1000 genomes]
rs11083733	0.83[ASN][1000 genomes]
rs12232810	0.83[ASN][1000 genomes]
rs1996408	0.86[ASN][1000 genomes]
rs2191566	0.82[ASN][1000 genomes]
rs2356549	0.82[ASN][1000 genomes]
rs3810406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433920	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4482396	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803667	0.86[ASN][1000 genomes]
rs4803669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803673	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803675	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55771992	0.87[EUR][1000 genomes]
rs55812285	0.87[EUR][1000 genomes]
rs56149185	0.87[EUR][1000 genomes]
rs56182773	0.87[EUR][1000 genomes]
rs56317065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56320525	0.87[EUR][1000 genomes]
rs62115482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62115484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62115489	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115511	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62115513	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62119173	0.83[ASN][1000 genomes]
rs62119176	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6509133	0.83[ASN][1000 genomes]
rs6509138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7245749	0.83[ASN][1000 genomes]
rs7246834	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7254261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255145	0.85[ASN][1000 genomes]
rs7255315	0.82[ASN][1000 genomes]
rs7255512	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255701	0.87[EUR][1000 genomes]
rs7256908	0.82[ASN][1000 genomes]
rs7258517	0.87[ASN][1000 genomes]
rs7260075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73037629	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104437	0.87[EUR][1000 genomes]
rs8104605	0.83[EUR][1000 genomes]
rs8104802	0.87[EUR][1000 genomes]
rs8105315	0.86[EUR][1000 genomes]
rs8105571	0.82[ASN][1000 genomes]
rs8105574	0.87[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44556600-44564600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:44557000-44560000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:44557000-44560000	Weak transcription	Gastric	stomach
4	chr19:44557000-44560200	Weak transcription	Fetal Thymus	thymus
5	chr19:44557000-44560200	Weak transcription	Thymus	Thymus
6	chr19:44557000-44561800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:44557000-44561800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:44557000-44561800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44557000-44561800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:44557000-44561800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:44557000-44561800	Weak transcription	Aorta	Aorta
12	chr19:44557000-44561800	Weak transcription	Placenta	Placenta
13	chr19:44557000-44565000	Weak transcription	Psoas Muscle	Psoas
14	chr19:44557000-44566800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44557000-44567400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44557000-44567400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:44557000-44567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:44557000-44568800	Weak transcription	HMEC	breast
19	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
20	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
21	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr19:44557200-44560000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:44557200-44560000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:44557200-44560000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:44557200-44560000	Weak transcription	NHEK	skin
26	chr19:44557200-44561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:44557200-44561800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:44557200-44562600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:44557200-44565600	Weak transcription	NHLF	lung
30	chr19:44557400-44560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:44557400-44561800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44557400-44561800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:44557400-44561800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:44557400-44561800	Weak transcription	Dnd41	blood
35	chr19:44557400-44561800	Weak transcription	HepG2	liver
36	chr19:44557400-44564400	Weak transcription	Fetal Heart	heart
37	chr19:44557400-44565000	Weak transcription	Small Intestine	intestine
38	chr19:44557400-44565000	Weak transcription	NH-A	brain
39	chr19:44557400-44570000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:44557600-44560000	Weak transcription	Pancreas	Pancrea
42	chr19:44557600-44560200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr19:44557600-44564800	Weak transcription	Fetal Brain Male	brain
44	chr19:44557800-44561800	Weak transcription	Right Ventricle	heart
45	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
48	chr19:44558400-44560000	Weak transcription	Fetal Brain Female	brain
49	chr19:44558400-44560400	Strong transcription	Brain Germinal Matrix	brain
50	chr19:44558600-44560200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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