Variant report

Variant	rs10419245
Chromosome Location	chr19:19383755-19383756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19370401..19373352-chr19:19382111..19385169,3	K562	blood:
2	chr19:19371281..19373352-chr19:19383019..19385169,2	K562	blood:
3	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213999	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000187664	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000064489	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1009136	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1010207	0.85[AFR][1000 genomes];0.96[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	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409234	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10418051	0.97[ASN][1000 genomes]
rs10419672	0.89[ASN][1000 genomes]
rs10421505	0.90[ASN][1000 genomes]
rs10426780	0.82[AFR][1000 genomes];0.96[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	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12976025	0.86[ASN][1000 genomes]
rs12977937	0.83[AFR][1000 genomes];0.91[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	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13964	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs15622	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1859287	0.89[ASN][1000 genomes]
rs2017964	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023882	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023883	0.89[ASN][1000 genomes]
rs2074089	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074090	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074091	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074296	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074298	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074299	0.95[AFR][1000 genomes];0.98[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	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074550	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074551	0.94[ASN][1000 genomes]
rs2269873	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285627	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285628	0.83[ASN][1000 genomes]
rs2285859	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301668	0.85[ASN][1000 genomes]
rs2301669	0.90[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];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301786	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315022	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2315025	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2905421	0.88[EUR][1000 genomes]
rs2905423	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2905424	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2905425	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2965191	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2965193	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2965198	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2965199	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3934667	0.81[AMR][1000 genomes]
rs4808193	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808194	0.87[ASN][1000 genomes]
rs4808937	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808938	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808940	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808941	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808942	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62135552	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511026	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511028	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511032	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67720221	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7246748	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7247309	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7250368	0.85[ASN][1000 genomes]
rs7254230	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254748	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254927	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259434	0.86[ASN][1000 genomes]
rs735273	0.98[AFR][1000 genomes];0.99[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	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101938	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103197	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8103496	0.98[AFR][1000 genomes];0.99[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19373000-19384000	Weak transcription	Pancreas	Pancrea
2	chr19:19381600-19385600	Weak transcription	Brain Angular Gyrus	brain
3	chr19:19381600-19387600	Weak transcription	K562	blood
4	chr19:19383000-19383800	Flanking Active TSS	Liver	Liver
5	chr19:19383000-19384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:19383000-19384200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr19:19383200-19383800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:19383200-19384000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:19383200-19384200	Active TSS	Osteobl	bone
10	chr19:19383200-19384400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:19383200-19384400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr19:19383200-19384600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr19:19383400-19383800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19383400-19383800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:19383400-19383800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:19383400-19383800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:19383400-19383800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:19383400-19383800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr19:19383400-19383800	Flanking Active TSS	HSMM	muscle
20	chr19:19383400-19384200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:19383400-19384200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:19383400-19384200	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr19:19383400-19384200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:19383400-19384200	Active TSS	Duodenum Mucosa	Duodenum
25	chr19:19383400-19384200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr19:19383400-19384200	Active TSS	Fetal Brain Female	brain
27	chr19:19383400-19384200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr19:19383400-19384200	Active TSS	HSMMtube	muscle
29	chr19:19383400-19384200	Active TSS	NH-A	brain
30	chr19:19383400-19384400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:19383400-19384400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr19:19383400-19384400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:19383400-19384400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:19383400-19384400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:19383400-19384400	Active TSS	Colonic Mucosa	Colon
36	chr19:19383400-19384600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:19383400-19384600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr19:19383400-19384600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:19383400-19384600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:19383400-19384600	Enhancers	Fetal Heart	heart
41	chr19:19383400-19384600	Bivalent Enhancer	Spleen	Spleen
42	chr19:19383400-19384800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr19:19383600-19383800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:19383600-19383800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:19383600-19383800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:19383600-19383800	Enhancers	Brain Substantia Nigra	brain
47	chr19:19383600-19383800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr19:19383600-19383800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr19:19383600-19383800	Flanking Active TSS	Left Ventricle	heart
50	chr19:19383600-19383800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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