Variant report

Variant	rs35314308
Chromosome Location	chr5:79554872-79554873
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:79553944-79554912	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:79551691-79555098	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79422174..79424739-chr5:79552545..79555468,2	K562	blood:
2	chr5:79448931..79451462-chr5:79553566..79555541,2	K562	blood:
3	chr5:79549248..79554047-chr5:79554483..79557884,6	MCF-7	breast:
4	chr5:79553935..79555947-chr5:79557766..79560598,2	K562	blood:
5	chr5:79553026..79559305-chr5:79561133..79565052,9	K562	blood:
6	chr5:79529349..79531030-chr5:79552067..79554937,3	K562	blood:
7	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPZ1-1	chr5:79554660-79556231	NONHSAT102396

No data

Variant related genes	Relation type
SERINC5	TF binding region
ENSG00000251675	Chromatin interaction
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13153456	0.84[AMR][1000 genomes]
rs13179394	0.84[AMR][1000 genomes]
rs13179638	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13181284	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13188642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13190128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13190586	0.84[AMR][1000 genomes]
rs17201222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17260885	0.84[AMR][1000 genomes]
rs34006305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34286825	0.89[AMR][1000 genomes]
rs34325845	0.84[AMR][1000 genomes]
rs34445888	0.84[AMR][1000 genomes]
rs34550632	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34700139	0.84[AMR][1000 genomes]
rs34844945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35155855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35242457	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35327965	0.84[AMR][1000 genomes]
rs35375564	0.89[AMR][1000 genomes]
rs35408097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35720953	0.84[AMR][1000 genomes]
rs35762887	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35860790	0.84[AMR][1000 genomes]
rs35916537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67405165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71636211	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71636213	0.84[AMR][1000 genomes]
rs72776301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79553400-79577800	Weak transcription	Right Atrium	heart
2	chr5:79553600-79556200	Weak transcription	Liver	Liver
3	chr5:79553600-79556200	Weak transcription	Pancreas	Pancrea
4	chr5:79553600-79561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:79553600-79568200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:79553800-79555400	Enhancers	Placenta	Placenta
7	chr5:79553800-79556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:79553800-79556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:79554000-79555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:79554000-79556000	Weak transcription	HepG2	liver
11	chr5:79554200-79564800	Weak transcription	Fetal Stomach	stomach
12	chr5:79554400-79559600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:79554400-79561600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:79554400-79563800	Weak transcription	Fetal Thymus	thymus
15	chr5:79554600-79556400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:79554600-79564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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