Variant report

Variant	rs62498192
Chromosome Location	chr8:19960889-19960890
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:
2	chr8:19949357..19952211-chr8:19959629..19961993,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1018077	0.89[ASN][1000 genomes]
rs11780183	0.89[ASN][1000 genomes]
rs13256965	0.80[AFR][1000 genomes]
rs1995087	0.86[ASN][1000 genomes]
rs4244458	0.85[ASN][1000 genomes]
rs4559256	0.86[ASN][1000 genomes]
rs7008150	0.81[ASN][1000 genomes]
rs73602314	0.91[ASN][1000 genomes]
rs7838269	0.87[ASN][1000 genomes]
rs7840262	0.95[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19952000-19961800	Weak transcription	Left Ventricle	heart
2	chr8:19956800-19963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19957200-19962800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:19957200-19963200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:19960400-19961400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:19960400-19961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:19960400-19961800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:19960400-19962000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:19960400-19962200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:19960400-19962200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:19960400-19962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:19960400-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:19960400-19962400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:19960400-19963000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:19960600-19961000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:19960600-19961000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:19960600-19961000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:19960600-19961000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:19960600-19961000	Enhancers	Adipose Nuclei	Adipose
21	chr8:19960600-19961400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:19960600-19961400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:19960600-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:19960600-19962400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:19960800-19961000	Enhancers	Right Ventricle	heart
26	chr8:19960800-19961200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:19960800-19961200	Enhancers	HUVEC	blood vessel
28	chr8:19960800-19961400	Enhancers	Placenta	Placenta
29	chr8:19960800-19961800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:19960800-19962000	Weak transcription	Right Atrium	heart
31	chr8:19960800-19963800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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