Variant report

Variant	rs4808938
Chromosome Location	chr19:19401218-19401219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1009136	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1010207	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10402661	0.89[ASN][1000 genomes]
rs10403731	0.86[ASN][1000 genomes]
rs10407952	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409234	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418051	1.00[ASN][1000 genomes]
rs10419245	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419672	0.92[ASN][1000 genomes]
rs10421505	0.93[ASN][1000 genomes]
rs10426780	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11085259	0.88[ASN][1000 genomes]
rs11085261	0.86[ASN][1000 genomes]
rs11666553	0.92[ASN][1000 genomes]
rs12459676	0.89[ASN][1000 genomes]
rs12460764	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12976025	0.89[ASN][1000 genomes]
rs12977937	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12982276	0.93[ASN][1000 genomes]
rs12983137	0.92[ASN][1000 genomes]
rs12985655	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13964	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs15622	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859287	0.92[ASN][1000 genomes]
rs2017964	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023883	0.92[ASN][1000 genomes]
rs2074089	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2074090	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074091	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074296	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074298	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074299	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074300	0.87[ASN][1000 genomes]
rs2074301	0.89[ASN][1000 genomes]
rs2074303	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074550	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074551	0.91[ASN][1000 genomes]
rs2269873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285627	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285628	0.86[ASN][1000 genomes]
rs2285859	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301668	0.88[ASN][1000 genomes]
rs2301669	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301671	0.86[ASN][1000 genomes]
rs2301784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301786	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2315022	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2315025	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2315279	0.82[AMR][1000 genomes]
rs2315281	0.82[AMR][1000 genomes]
rs2905421	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2905423	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2905424	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2905425	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2965175	0.81[AMR][1000 genomes]
rs2965191	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2965193	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2965198	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2965199	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3934667	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4808193	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808194	0.90[ASN][1000 genomes]
rs4808937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808939	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808940	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808941	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808942	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62135552	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511028	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511030	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6511032	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67720221	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7246748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247263	0.81[AFR][1000 genomes]
rs7247309	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250368	0.88[ASN][1000 genomes]
rs7254230	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254748	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259434	0.89[ASN][1000 genomes]
rs735273	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757000	0.88[ASN][1000 genomes]
rs757001	0.87[ASN][1000 genomes]
rs769267	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8101938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103197	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103496	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105094	0.86[ASN][1000 genomes]
rs8105984	0.86[ASN][1000 genomes]
rs8108647	0.99[ASN][1000 genomes]
rs9304960	0.86[ASN][1000 genomes]
rs968525	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
3	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach
8	chr19:19385600-19403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr19:19385800-19402200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:19385800-19402400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:19385800-19403200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19385800-19409600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:19385800-19410000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:19386000-19415200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:19386200-19401400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:19386200-19408200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:19386200-19421000	Weak transcription	Stomach Mucosa	stomach
19	chr19:19386400-19401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:19386400-19405400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:19386800-19403200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:19386800-19403400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:19386800-19405200	Strong transcription	Liver	Liver
24	chr19:19386800-19428400	Strong transcription	Fetal Intestine Small	intestine
25	chr19:19387000-19408600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:19387200-19408400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:19388000-19401600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:19388000-19403600	Weak transcription	HSMM	muscle
29	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:19388600-19401400	Strong transcription	Placenta	Placenta
31	chr19:19389200-19412800	Weak transcription	HMEC	breast
32	chr19:19389600-19419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:19390400-19411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:19390400-19412200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:19390800-19404400	Weak transcription	A549	lung
36	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
37	chr19:19392200-19407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19392400-19415000	Weak transcription	Fetal Heart	heart
39	chr19:19392600-19402000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:19392600-19403400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:19392600-19403600	Weak transcription	Hela-S3	cervix
42	chr19:19392600-19412600	Weak transcription	Fetal Brain Male	brain
43	chr19:19393800-19418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:19394400-19401600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:19394400-19408600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:19394600-19403600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:19394600-19409800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:19394800-19406800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:19395000-19404200	Weak transcription	Right Ventricle	heart
50	chr19:19395600-19412800	Weak transcription	NHEK	skin

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