Variant report

Variant	rs7252394
Chromosome Location	chr19:44503569-44503570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10418363	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083732	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083733	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11881151	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12232810	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1996408	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191566	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270196	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356549	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35292176	0.90[EUR][1000 genomes]
rs367209	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367499	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369106	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377503	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384544	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390369	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803667	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803669	0.84[ASN][1000 genomes]
rs55703004	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101767	0.94[EUR][1000 genomes]
rs56171514	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317065	0.82[ASN][1000 genomes]
rs59963278	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62115482	0.80[ASN][1000 genomes]
rs62119173	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62119176	0.87[ASN][1000 genomes]
rs6509133	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7245749	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253205	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255145	0.91[ASN][1000 genomes]
rs7255315	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7256908	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258517	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73037629	0.80[ASN][1000 genomes]
rs8105571	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3390785	chr19:44503412-44505260	Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
5	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
9	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
10	chr19:44499200-44506200	Weak transcription	NHLF	lung
11	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
18	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
23	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
29	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
31	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:44501400-44506200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:44501600-44506000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:44501600-44506000	Weak transcription	Fetal Brain Male	brain
35	chr19:44501600-44506200	Weak transcription	Thymus	Thymus
36	chr19:44501600-44506200	Weak transcription	Osteobl	bone
37	chr19:44501600-44506400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:44501800-44503800	Weak transcription	GM12878-XiMat	blood
39	chr19:44501800-44506000	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:44501800-44506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:44501800-44506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:44501800-44506200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:44501800-44506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:44501800-44506200	Weak transcription	Fetal Lung	lung
45	chr19:44501800-44506200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:44501800-44506400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:44501800-44506400	Weak transcription	Colonic Mucosa	Colon
48	chr19:44501800-44506400	Weak transcription	Placenta	Placenta
49	chr19:44502000-44505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:44502000-44506000	Weak transcription	Rectal Mucosa Donor 29	rectum

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