Variant report

Variant	rs1995087
Chromosome Location	chr8:19962013-19962014
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	chr8:19956033..19958398-chr8:19960107..19963324,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10107943	0.81[EUR][1000 genomes]
rs1018078	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11204089	0.86[EUR][1000 genomes]
rs11780183	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12677531	0.80[EUR][1000 genomes]
rs1566122	0.90[EUR][1000 genomes]
rs16842	0.91[ASN][1000 genomes]
rs1982957	0.85[EUR][1000 genomes]
rs28730326	0.91[EUR][1000 genomes]
rs4244459	0.88[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4559256	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62498192	0.86[ASN][1000 genomes]
rs7008150	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73602314	0.80[ASN][1000 genomes]
rs7813404	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7840262	0.84[ASN][1000 genomes]
rs9325864	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033931	chr8:19954428-19979303	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv525841	chr8:19957089-19970889	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19956800-19963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:19957200-19962800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:19957200-19963200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:19960400-19962200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:19960400-19962200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:19960400-19962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:19960400-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:19960400-19962400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:19960400-19963000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19960600-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:19960600-19962400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:19960800-19963800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:19961000-19962800	Weak transcription	Adipose Nuclei	Adipose
15	chr8:19961000-19963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:19961200-19963000	Weak transcription	HUVEC	blood vessel
17	chr8:19961400-19962600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:19961400-19962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:19961400-19962800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:19961400-19962800	Weak transcription	Fetal Lung	lung
21	chr8:19961400-19962800	Weak transcription	Right Ventricle	heart
22	chr8:19961400-19963000	Weak transcription	Placenta	Placenta
23	chr8:19961800-19962400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:19961800-19962400	Enhancers	Left Ventricle	heart
25	chr8:19961800-19963600	Enhancers	Lung	lung
26	chr8:19962000-19962200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:19962000-19962200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:19962000-19963000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:19962000-19963000	Enhancers	Colon Smooth Muscle	Colon
30	chr8:19962000-19963800	Enhancers	Right Atrium	heart

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