Variant report

Variant	rs2356752
Chromosome Location	chr19:44654227-44654228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10409155	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417451	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11666199	0.87[ASN][1000 genomes]
rs12459795	0.92[ASN][1000 genomes]
rs12460431	0.87[ASN][1000 genomes]
rs12461251	0.88[ASN][1000 genomes]
rs12608984	0.88[EUR][1000 genomes]
rs12609635	0.94[ASN][1000 genomes]
rs12972784	0.88[ASN][1000 genomes]
rs2051058	0.86[ASN][1000 genomes]
rs2051059	0.85[ASN][1000 genomes]
rs2085516	0.88[EUR][1000 genomes]
rs2100643	0.88[EUR][1000 genomes]
rs2293587	0.89[EUR][1000 genomes]
rs2356727	0.90[ASN][1000 genomes]
rs2356751	0.88[EUR][1000 genomes]
rs3817595	0.89[EUR][1000 genomes]
rs4802209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803684	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58778698	0.88[EUR][1000 genomes]
rs60668498	0.88[EUR][1000 genomes]
rs61412562	0.88[EUR][1000 genomes]
rs61589395	0.88[EUR][1000 genomes]
rs62117771	0.94[ASN][1000 genomes]
rs6509145	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6509146	0.88[EUR][1000 genomes]
rs7248054	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7249209	0.88[EUR][1000 genomes]
rs7253196	0.88[ASN][1000 genomes]
rs7508523	0.85[ASN][1000 genomes]
rs8103838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105479	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8108934	0.90[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	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
2	nsv961227	chr19:44652941-44654566	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
4	chr19:44647000-44655600	Weak transcription	HUVEC	blood vessel
5	chr19:44647000-44660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:44647000-44660200	Weak transcription	Hela-S3	cervix
7	chr19:44647000-44660400	Weak transcription	Fetal Heart	heart
8	chr19:44647600-44655800	Weak transcription	Fetal Brain Male	brain
9	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
10	chr19:44648200-44656400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr19:44648200-44657600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:44648200-44658200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44648200-44660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44648400-44654600	Strong transcription	Aorta	Aorta
15	chr19:44648400-44654600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:44648400-44656000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:44648400-44656000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr19:44648400-44656000	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:44648400-44656400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:44648400-44657200	Strong transcription	Brain Germinal Matrix	brain
21	chr19:44648400-44658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:44648400-44658800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:44648400-44658800	Strong transcription	Fetal Muscle Leg	muscle
24	chr19:44648400-44659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:44648400-44660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:44648400-44660000	Strong transcription	Placenta	Placenta
27	chr19:44648400-44660400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:44648400-44663200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr19:44648600-44655800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:44648600-44656200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:44648600-44656600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:44648600-44656800	Strong transcription	Brain Substantia Nigra	brain
33	chr19:44648600-44657200	Strong transcription	Thymus	Thymus
34	chr19:44648600-44658600	Strong transcription	Brain Anterior Caudate	brain
35	chr19:44648600-44658600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr19:44648600-44658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:44648600-44659000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:44648600-44659000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:44648600-44659000	Strong transcription	Dnd41	blood
40	chr19:44648600-44659400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:44648600-44659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:44648600-44659800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:44648600-44660000	Strong transcription	Left Ventricle	heart
44	chr19:44648600-44660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:44648600-44660200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:44648600-44661800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:44648800-44658000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr19:44648800-44661200	Strong transcription	Fetal Intestine Large	intestine
49	chr19:44649000-44657000	Strong transcription	Fetal Brain Female	brain
50	chr19:44649400-44654800	Strong transcription	Right Ventricle	heart

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