Variant report

Variant	rs2630509
Chromosome Location	chr8:130426284-130426285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:130426116-130427168	K562	blood:	n/a	n/a
2	SPI1	chr8:130424960-130431905	HL-60	blood:	n/a	chr8:130430338-130430351 chr8:130430995-130431008
3	POLR2A	chr8:130421984-130431837	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130424297..130426458-chr8:130429983..130431740,3	K562	blood:
2	chr8:130419752..130421541-chr8:130425916..130427776,2	K562	blood:

Variant related genes	Relation type
ENSG00000253926	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10102471	0.89[EUR][1000 genomes]
rs10956479	0.89[EUR][1000 genomes]
rs11781179	0.89[EUR][1000 genomes]
rs1347052	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1347053	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1432360	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1432361	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1594597	0.89[EUR][1000 genomes]
rs2217589	0.88[EUR][1000 genomes]
rs2395899	0.89[EUR][1000 genomes]
rs2579865	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2579870	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2579871	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2579872	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2579879	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2630507	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2630508	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2630510	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2630514	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2719189	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2719206	0.82[JPT][hapmap]
rs2719211	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2719212	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2719214	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2719218	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6989293	0.88[EUR][1000 genomes]
rs6989619	0.88[EUR][1000 genomes]
rs6998642	0.88[EUR][1000 genomes]
rs7828064	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7845472	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs976912	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs985688	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs9969496	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3419619	chr8:130426225-130426740	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130416800-130426600	Strong transcription	K562	blood
3	chr8:130419800-130427000	Weak transcription	Thymus	Thymus
4	chr8:130424200-130426400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:130424200-130427600	Weak transcription	GM12878-XiMat	blood
6	chr8:130424400-130426600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:130424600-130426600	Enhancers	Fetal Lung	lung
8	chr8:130425000-130427800	Weak transcription	Fetal Stomach	stomach
9	chr8:130426000-130426800	Weak transcription	Fetal Thymus	thymus
10	chr8:130426200-130427400	Enhancers	Dnd41	blood

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