Variant report

Variant	rs4294164
Chromosome Location	chr8:125111902-125111903
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125111456..125114029-chr8:125129027..125130553,2	MCF-7	breast:
2	chr8:125110351..125112289-chr8:125114668..125117453,3	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10094266	0.94[EUR][1000 genomes]
rs10094533	1.00[CEU][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs10102566	1.00[CEU][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10106600	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10113693	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10113772	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1073178	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1075051	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808530	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10808531	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956163	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956164	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11984962	0.80[EUR][1000 genomes]
rs12375254	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs12541155	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545670	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13251412	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13254252	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13254498	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13258808	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13258930	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13261097	1.00[CEU][hapmap];0.85[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13263969	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269044	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2069078	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28550456	0.83[ASN][1000 genomes]
rs3886123	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs4311644	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs4330676	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4345538	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4374969	0.81[AMR][1000 genomes]
rs4389914	0.80[CEU][hapmap]
rs4392878	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs4404895	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4410885	0.94[EUR][1000 genomes]
rs4412351	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4430074	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4446721	1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes]
rs4460351	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4483139	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4483140	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4484683	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4500064	0.81[AMR][1000 genomes]
rs4510842	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4576412	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs4623400	0.86[AMR][1000 genomes]
rs4871451	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs4871452	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs4871453	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs4871454	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs4871457	0.80[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs4871458	0.80[CEU][hapmap];0.91[TSI][hapmap]
rs4871459	0.80[CEU][hapmap]
rs4871460	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871461	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59583746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6470216	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6470217	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6470218	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6470219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470220	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470221	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983060	0.80[CEU][hapmap]
rs6984093	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs6987082	0.91[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991629	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7001300	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs7003992	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs7005123	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7007739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7009406	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7010375	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7012186	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013226	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815620	0.92[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815768	0.86[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7816075	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7822018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822412	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822557	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7825506	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7826405	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7827412	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7831422	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs7832499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836974	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7840702	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs7842213	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs9297683	0.94[EUR][1000 genomes]
rs9297684	1.00[CEU][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9297685	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9643188	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4294164	WDYHV1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
2	chr8:125100800-125124600	Weak transcription	Gastric	stomach
3	chr8:125108600-125115400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125109600-125113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:125109800-125112000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:125110000-125113600	Weak transcription	Fetal Intestine Small	intestine
7	chr8:125110000-125116000	Weak transcription	Fetal Intestine Large	intestine
8	chr8:125111200-125112600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:125111400-125112600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:125111800-125116000	Weak transcription	Stomach Mucosa	stomach

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