Variant report

Variant	rs4518684
Chromosome Location	chr8:19728815-19728816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19727136..19729555-chr8:19732389..19735213,2	K562	blood:
2	chr8:19726580..19729500-chr8:19735751..19737530,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1441779	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548049	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4922112	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7003579	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008767	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7821631	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs958615	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4518684	INTS10	cis	cerebellum	SCAN
rs4518684	INTS10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19718600-19732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:19725200-19731200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19726400-19732400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:19726800-19730200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:19727200-19729000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19727200-19729000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:19728000-19729000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:19728000-19729600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:19728000-19732800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:19728200-19729000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:19728200-19729000	Enhancers	Hela-S3	cervix
12	chr8:19728200-19729200	Enhancers	HepG2	liver
13	chr8:19728200-19731200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:19728200-19731800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:19728200-19733400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:19728200-19734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:19728400-19729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:19728400-19729200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:19728400-19729400	Enhancers	Placenta	Placenta
20	chr8:19728400-19730000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:19728400-19733600	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:19728600-19730000	Weak transcription	Fetal Lung	lung
23	chr8:19728600-19733600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:19728800-19729400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:19728800-19729600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:19728800-19730000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:19728800-19730400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:19728800-19731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:19728800-19733200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:19728800-19733200	Weak transcription	Adipose Nuclei	Adipose

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