Variant report

Variant	rs9484295
Chromosome Location	chr6:139927204-139927205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139926929..139929579-chr6:139947168..139949800,3	K562	blood:
2	chr6:139920565..139922279-chr6:139926729..139929215,2	K562	blood:
3	chr6:139926812..139929737-chr6:139944252..139946929,2	K562	blood:
4	chr6:139691266..139693546-chr6:139926316..139928670,2	K562	blood:
5	chr6:139927028..139928862-chr6:139932935..139935592,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10223884	0.93[ASN][1000 genomes]
rs12202000	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12203872	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12205687	0.93[ASN][1000 genomes]
rs12211407	0.93[ASN][1000 genomes]
rs1541249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2327975	0.93[ASN][1000 genomes]
rs2327976	0.93[ASN][1000 genomes]
rs2876419	0.93[ASN][1000 genomes]
rs4317424	0.93[ASN][1000 genomes]
rs4419683	0.93[ASN][1000 genomes]
rs4419684	0.93[ASN][1000 genomes]
rs4557537	0.92[ASN][1000 genomes]
rs4896478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4896479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896483	0.95[ASN][1000 genomes]
rs4896484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7765883	0.81[CHD][hapmap]
rs9285491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs9321734	0.95[ASN][1000 genomes]
rs9321735	0.84[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9321737	0.93[ASN][1000 genomes]
rs9321739	0.81[AFR][1000 genomes]
rs9373239	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9376438	0.93[ASN][1000 genomes]
rs9389698	0.88[ASN][1000 genomes]
rs9389700	0.90[ASN][1000 genomes]
rs9403092	0.81[CHD][hapmap]
rs9403095	0.84[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9484293	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484294	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484298	0.93[ASN][1000 genomes]
rs9495535	0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs9495552	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9484295	REPS1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139913000-139928600	Weak transcription	Ovary	ovary
2	chr6:139919800-139927600	Weak transcription	Fetal Kidney	kidney
3	chr6:139919800-139928200	Weak transcription	Fetal Lung	lung
4	chr6:139920800-139928600	Weak transcription	Osteobl	bone
5	chr6:139924400-139928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:139924600-139928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:139925000-139928600	Weak transcription	K562	blood
8	chr6:139925200-139928000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:139925400-139928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:139925400-139928400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:139925400-139928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:139925400-139928400	Weak transcription	Fetal Stomach	stomach
13	chr6:139925400-139928600	Weak transcription	Fetal Brain Male	brain
14	chr6:139925400-139928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:139925400-139928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:139925400-139928800	Weak transcription	Aorta	Aorta
17	chr6:139926000-139927400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:139926800-139928600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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