Variant report

Variant	rs4808939
Chromosome Location	chr19:19410480-19410481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19410438..19413019-chr19:19430058..19433455,4	K562	blood:
2	chr19:19390031..19392820-chr19:19409404..19411481,2	MCF-7	breast:
3	chr19:19409469..19413871-chr19:19428728..19432308,7	K562	blood:
4	chr19:19284622..19286518-chr19:19409088..19411298,2	K562	blood:

Variant related genes	Relation type
ENSG00000105705	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1009136	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1010207	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402661	0.94[ASN][1000 genomes]
rs10403731	0.91[ASN][1000 genomes]
rs10407952	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10409234	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10418051	0.89[ASN][1000 genomes]
rs10419245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419672	0.81[ASN][1000 genomes]
rs10421505	0.82[ASN][1000 genomes]
rs10426780	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11085259	0.93[ASN][1000 genomes]
rs11085261	0.91[ASN][1000 genomes]
rs11666553	0.97[ASN][1000 genomes]
rs12459676	0.91[ASN][1000 genomes]
rs12460764	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12976025	0.94[ASN][1000 genomes]
rs12977937	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12982276	0.82[ASN][1000 genomes]
rs12983137	0.97[ASN][1000 genomes]
rs12985655	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13964	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs15622	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1859287	0.97[ASN][1000 genomes]
rs2017964	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2023882	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023883	0.97[ASN][1000 genomes]
rs2074089	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074090	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2074091	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2074296	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074298	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074300	0.92[ASN][1000 genomes]
rs2074301	0.94[ASN][1000 genomes]
rs2074303	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074550	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074551	0.81[ASN][1000 genomes]
rs2269873	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285627	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285628	0.91[ASN][1000 genomes]
rs2285859	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301668	0.93[ASN][1000 genomes]
rs2301669	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301671	0.91[ASN][1000 genomes]
rs2301784	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301786	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2315022	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2315025	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2905421	0.90[EUR][1000 genomes]
rs2905423	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2905424	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2905425	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2965191	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2965193	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2965198	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2965199	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3934667	0.80[AMR][1000 genomes]
rs4808193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808194	0.95[ASN][1000 genomes]
rs4808937	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808938	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4808940	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808941	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808942	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62135552	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511026	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511028	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511032	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67720221	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246748	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7247309	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7250368	0.93[ASN][1000 genomes]
rs7254230	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7254748	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7254927	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258508	0.83[ASN][1000 genomes]
rs7259434	0.94[ASN][1000 genomes]
rs735273	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs757000	0.93[ASN][1000 genomes]
rs757001	0.92[ASN][1000 genomes]
rs769267	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8101938	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103197	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8103496	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105094	0.94[ASN][1000 genomes]
rs8105984	0.94[ASN][1000 genomes]
rs8108647	0.88[ASN][1000 genomes]
rs9304960	0.91[ASN][1000 genomes]
rs968525	0.93[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	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	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	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:19386000-19415200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:19386200-19421000	Weak transcription	Stomach Mucosa	stomach
5	chr19:19386800-19428400	Strong transcription	Fetal Intestine Small	intestine
6	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:19389200-19412800	Weak transcription	HMEC	breast
8	chr19:19389600-19419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:19390400-19411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:19390400-19412200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
12	chr19:19392400-19415000	Weak transcription	Fetal Heart	heart
13	chr19:19392600-19412600	Weak transcription	Fetal Brain Male	brain
14	chr19:19393800-19418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:19395600-19412800	Weak transcription	NHEK	skin
16	chr19:19397200-19420800	Weak transcription	NHDF-Ad	bronchial
17	chr19:19397400-19418600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:19397600-19416400	Weak transcription	Small Intestine	intestine
19	chr19:19398000-19426800	Weak transcription	K562	blood
20	chr19:19398200-19411200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:19398400-19412000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:19401200-19411200	Weak transcription	Colonic Mucosa	Colon
23	chr19:19401200-19412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:19401200-19412200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:19401400-19413400	Weak transcription	HepG2	liver
26	chr19:19402400-19427600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:19402400-19427800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:19402600-19427400	Strong transcription	Lung	lung
29	chr19:19402800-19427600	Strong transcription	Fetal Intestine Large	intestine
30	chr19:19402800-19428600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:19403000-19427800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:19403200-19413800	Strong transcription	Fetal Brain Female	brain
33	chr19:19403200-19421600	Strong transcription	Brain Germinal Matrix	brain
34	chr19:19403400-19414600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:19403400-19423400	Strong transcription	Brain Hippocampus Middle	brain
36	chr19:19403400-19427800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:19403400-19428600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr19:19403600-19421800	Strong transcription	Adipose Nuclei	Adipose
39	chr19:19403800-19428200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:19404000-19427600	Strong transcription	Fetal Muscle Leg	muscle
41	chr19:19404200-19427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:19404200-19429000	Strong transcription	Fetal Stomach	stomach
43	chr19:19404400-19411800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr19:19404600-19411200	Weak transcription	GM12878-XiMat	blood
45	chr19:19404600-19412600	Weak transcription	NH-A	brain
46	chr19:19404600-19413200	Weak transcription	Hela-S3	cervix
47	chr19:19404600-19427600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:19404600-19427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:19404800-19411400	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:19404800-19428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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