Variant report

Variant	rs10518194
Chromosome Location	chr4:79083490-79083491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79082865..79083529-chr6:109330266..109331128,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000080546	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10000651	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10002604	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10003965	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10004159	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10005735	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10005862	0.91[EUR][1000 genomes]
rs10007371	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10018454	0.85[ASN][1000 genomes]
rs10023697	0.94[ASN][1000 genomes]
rs10025194	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10025611	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10025769	0.82[ASN][1000 genomes]
rs10025977	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10026268	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10028988	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10030639	0.85[ASN][1000 genomes]
rs10033428	0.85[ASN][1000 genomes]
rs10213063	0.85[ASN][1000 genomes]
rs10213609	0.85[ASN][1000 genomes]
rs13127746	0.94[EUR][1000 genomes]
rs13133346	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13136410	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13144972	0.85[ASN][1000 genomes]
rs13150598	0.94[ASN][1000 genomes]
rs1317018	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16997130	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17418552	0.84[ASN][1000 genomes]
rs17419053	0.84[ASN][1000 genomes]
rs17420118	0.94[ASN][1000 genomes]
rs17420328	0.94[ASN][1000 genomes]
rs1878437	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2078481	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28409486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28479828	0.85[ASN][1000 genomes]
rs28542863	0.90[ASN][1000 genomes]
rs28597965	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28635454	0.85[ASN][1000 genomes]
rs2867004	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28671092	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28677913	0.85[ASN][1000 genomes]
rs28707182	0.85[ASN][1000 genomes]
rs28750077	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28822779	0.85[ASN][1000 genomes]
rs2903452	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34552897	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35060393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35374567	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35967777	0.94[ASN][1000 genomes]
rs4610363	0.85[ASN][1000 genomes]
rs4634250	0.85[ASN][1000 genomes]
rs55690666	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56368720	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58118093	0.84[ASN][1000 genomes]
rs58969863	0.85[ASN][1000 genomes]
rs58970756	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66631138	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6820400	0.85[ASN][1000 genomes]
rs6825089	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838483	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838661	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840121	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840357	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6848061	0.94[ASN][1000 genomes]
rs6857278	0.85[ASN][1000 genomes]
rs6857527	0.85[ASN][1000 genomes]
rs6858810	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72654668	0.90[ASN][1000 genomes]
rs7666444	0.85[ASN][1000 genomes]
rs7670625	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7673873	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7677432	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7681238	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684543	0.85[ASN][1000 genomes]
rs7695979	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7698326	0.94[ASN][1000 genomes]
rs7699120	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9307335	0.85[ASN][1000 genomes]
rs9307336	0.85[ASN][1000 genomes]
rs9307337	0.85[ASN][1000 genomes]
rs9307338	0.85[ASN][1000 genomes]
rs9307339	0.85[ASN][1000 genomes]
rs9307340	0.85[ASN][1000 genomes]
rs9307352	0.94[ASN][1000 genomes]
rs9991356	0.85[ASN][1000 genomes]
rs9994298	0.85[ASN][1000 genomes]
rs9994422	0.85[ASN][1000 genomes]
rs9999763	0.85[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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv829977	chr4:79082318-79110300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10518194	SCARB2	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79071000-79083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:79071400-79096600	Weak transcription	Pancreas	Pancrea
3	chr4:79078000-79083800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:79078200-79083600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:79078200-79085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:79078200-79094200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:79078400-79083600	Weak transcription	HepG2	liver
8	chr4:79078400-79095600	Weak transcription	Psoas Muscle	Psoas
9	chr4:79081600-79084400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:79081800-79084200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:79082000-79084000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:79082400-79085200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:79082400-79086600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:79082600-79084200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:79083000-79084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:79083000-79084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:79083200-79083800	Enhancers	Fetal Heart	heart
18	chr4:79083400-79083600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:79083400-79084000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:79083400-79084000	Enhancers	Fetal Intestine Small	intestine
21	chr4:79083400-79084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:79083400-79084200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:79083400-79084200	Enhancers	Fetal Kidney	kidney
24	chr4:79083400-79085000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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