Variant report

Variant	rs289
Chromosome Location	chr8:19815619-19815620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19807869..19810930-chr8:19812485..19816612,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10105606	0.93[ASN][1000 genomes]
rs11986942	0.94[ASN][1000 genomes]
rs13702	0.93[ASN][1000 genomes]
rs1372340	0.87[ASN][1000 genomes]
rs1372343	0.87[ASN][1000 genomes]
rs1372344	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441753	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441754	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1441755	0.94[ASN][1000 genomes]
rs1441756	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441757	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441758	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441762	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441763	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441764	0.94[ASN][1000 genomes]
rs1441766	0.94[ASN][1000 genomes]
rs1569213	0.85[ASN][1000 genomes]
rs17411031	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17411045	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17411126	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17411133	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17411168	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17489268	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17489282	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17489373	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17489539	0.86[ASN][1000 genomes]
rs1819092	0.83[ASN][1000 genomes]
rs1822200	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1837842	0.94[ASN][1000 genomes]
rs1837843	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919484	0.93[ASN][1000 genomes]
rs1992442	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992443	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2009493	0.94[ASN][1000 genomes]
rs2083636	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2083637	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119689	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2165558	0.86[ASN][1000 genomes]
rs2410618	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410619	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410620	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410621	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410623	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410625	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410627	0.88[ASN][1000 genomes]
rs2410628	0.86[ASN][1000 genomes]
rs2410629	0.88[ASN][1000 genomes]
rs2410630	0.85[ASN][1000 genomes]
rs287	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898495	0.88[ASN][1000 genomes]
rs291	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs305	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314	0.98[ASN][1000 genomes]
rs320	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3208305	0.93[ASN][1000 genomes]
rs322	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs326	0.98[ASN][1000 genomes]
rs327	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34327087	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34345068	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34499461	0.93[ASN][1000 genomes]
rs34564316	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34693282	0.87[ASN][1000 genomes]
rs34932218	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34942551	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35237252	0.91[ASN][1000 genomes]
rs35369244	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35465966	0.87[ASN][1000 genomes]
rs35495249	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35617716	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35687633	0.94[ASN][1000 genomes]
rs35739466	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844510	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3916027	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4083261	0.94[ASN][1000 genomes]
rs4126104	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4320561	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4333617	0.85[ASN][1000 genomes]
rs4335137	0.83[ASN][1000 genomes]
rs4375019	0.85[ASN][1000 genomes]
rs4406409	0.94[ASN][1000 genomes]
rs4425772	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4593558	0.88[ASN][1000 genomes]
rs4628269	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4644277	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922117	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922118	0.86[ASN][1000 genomes]
rs4922119	0.86[ASN][1000 genomes]
rs6586886	0.85[ASN][1000 genomes]
rs6986010	0.86[ASN][1000 genomes]
rs7013777	0.83[ASN][1000 genomes]
rs73208815	0.85[ASN][1000 genomes]
rs7461115	0.88[ASN][1000 genomes]
rs765547	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765548	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765549	0.94[ASN][1000 genomes]
rs894211	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs920588	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs920589	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9644637	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9644638	0.81[EUR][1000 genomes];0.94[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798200-19818400	Weak transcription	K562	blood
2	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:19804400-19819600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:19805000-19816600	Strong transcription	Fetal Lung	lung
7	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:19806200-19816200	Weak transcription	Aorta	Aorta
10	chr8:19806400-19819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:19806800-19819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:19808800-19819600	Strong transcription	Left Ventricle	heart
13	chr8:19809000-19817800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:19809600-19819400	Weak transcription	Brain Anterior Caudate	brain
15	chr8:19810000-19816800	Strong transcription	Right Ventricle	heart
16	chr8:19811600-19818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:19811800-19819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:19812000-19819400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:19812600-19819200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:19812800-19817000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:19813000-19819200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
25	chr8:19813800-19816200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:19813800-19819000	Weak transcription	Fetal Heart	heart
27	chr8:19814000-19816200	Weak transcription	Lung	lung
28	chr8:19814000-19819400	Weak transcription	Ovary	ovary
29	chr8:19814200-19819200	Strong transcription	Adipose Nuclei	Adipose
30	chr8:19814200-19820000	Weak transcription	Psoas Muscle	Psoas
31	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
32	chr8:19814400-19819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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