Variant report

Variant	rs2017964
Chromosome Location	chr19:19387149-19387150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:19387041-19387929	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19386675..19389436-chr19:19391039..19392571,2	K562	blood:

Variant related genes	Relation type
ENSG00000267629	TF binding region
TM6SF2	TF binding region
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1009136	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1010207	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10402661	0.86[ASN][1000 genomes]
rs10403731	0.83[ASN][1000 genomes]
rs10407952	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409234	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10418051	0.97[ASN][1000 genomes]
rs10419245	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419672	0.89[ASN][1000 genomes]
rs10421505	0.90[ASN][1000 genomes]
rs10426780	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11085259	0.85[ASN][1000 genomes]
rs11085261	0.83[ASN][1000 genomes]
rs11666553	0.89[ASN][1000 genomes]
rs12459676	0.86[ASN][1000 genomes]
rs12460764	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12976025	0.86[ASN][1000 genomes]
rs12977937	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12982276	0.90[ASN][1000 genomes]
rs12983137	0.89[ASN][1000 genomes]
rs12985655	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13964	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs15622	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1859287	0.89[ASN][1000 genomes]
rs2023882	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023883	0.89[ASN][1000 genomes]
rs2074089	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074090	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074091	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074296	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074298	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074299	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074300	0.90[ASN][1000 genomes]
rs2074301	0.92[ASN][1000 genomes]
rs2074303	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074551	0.94[ASN][1000 genomes]
rs2269873	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285627	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285628	0.83[ASN][1000 genomes]
rs2285859	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301668	0.85[ASN][1000 genomes]
rs2301669	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301671	0.83[ASN][1000 genomes]
rs2301784	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301786	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315022	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315025	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315279	0.80[AMR][1000 genomes]
rs2315281	0.80[AMR][1000 genomes]
rs2905421	0.88[EUR][1000 genomes]
rs2905423	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2905424	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2905425	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2965191	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2965193	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2965198	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2965199	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3934667	0.82[AMR][1000 genomes]
rs4808193	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808194	0.87[ASN][1000 genomes]
rs4808937	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808938	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808939	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808940	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808941	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808942	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62135552	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511026	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511028	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511032	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67720221	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7246748	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7247309	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7250368	0.85[ASN][1000 genomes]
rs7254230	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254748	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254927	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259434	0.86[ASN][1000 genomes]
rs735273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757000	0.85[ASN][1000 genomes]
rs757001	0.84[ASN][1000 genomes]
rs769267	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101938	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103197	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8103496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105094	0.89[ASN][1000 genomes]
rs8105984	0.89[ASN][1000 genomes]
rs8108647	0.96[ASN][1000 genomes]
rs9304960	0.83[ASN][1000 genomes]
rs968525	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19381600-19387600	Weak transcription	K562	blood
2	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:19384000-19387200	Weak transcription	GM12878-XiMat	blood
4	chr19:19384000-19388200	Weak transcription	HMEC	breast
5	chr19:19384200-19387200	Weak transcription	A549	lung
6	chr19:19384200-19387200	Weak transcription	NH-A	brain
7	chr19:19384200-19387200	Weak transcription	Osteobl	bone
8	chr19:19384200-19387400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
10	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
11	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
13	chr19:19384600-19387200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:19384600-19387600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:19384600-19388400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19384600-19389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:19384800-19387800	Enhancers	HSMMtube	muscle
18	chr19:19384800-19390400	Weak transcription	Fetal Brain Male	brain
19	chr19:19384800-19394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
21	chr19:19385000-19387200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:19385000-19388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:19385200-19387200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:19385200-19387200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:19385200-19388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:19385200-19389600	Strong transcription	Fetal Brain Female	brain
27	chr19:19385200-19396400	Weak transcription	NHDF-Ad	bronchial
28	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:19385400-19391000	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr19:19385400-19393000	Strong transcription	Brain Germinal Matrix	brain
31	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:19385600-19387200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:19385600-19387400	ZNF genes & repeats	Lung	lung
35	chr19:19385600-19391000	Strong transcription	Brain Angular Gyrus	brain
36	chr19:19385600-19391200	Strong transcription	Brain Anterior Caudate	brain
37	chr19:19385600-19392800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:19385600-19392800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr19:19385600-19393400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:19385600-19395000	Strong transcription	Right Ventricle	heart
41	chr19:19385600-19396400	Strong transcription	Thymus	Thymus
42	chr19:19385600-19401200	Strong transcription	Primary T cells from cord blood	blood
43	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach
45	chr19:19385600-19403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr19:19385800-19387200	Strong transcription	Placenta	Placenta
48	chr19:19385800-19388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:19385800-19390600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:19385800-19391200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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