Variant report

Variant	rs4430074
Chromosome Location	chr8:125117277-125117278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10094266	0.91[EUR][1000 genomes]
rs10094533	1.00[CEU][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs10102566	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10106600	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10113693	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10113772	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1073178	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1075051	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808530	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10808531	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956163	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10956164	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12375254	0.80[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs12541155	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12545670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251412	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13254252	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13254498	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13258808	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13258930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263969	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13269044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069078	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3886123	0.80[CEU][hapmap]
rs4294164	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]
rs4311644	0.80[CEU][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs4330676	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4345538	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4374969	0.82[AMR][1000 genomes]
rs4389914	0.80[CEU][hapmap]
rs4392878	0.80[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs4404895	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4410885	0.91[EUR][1000 genomes]
rs4412351	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4446721	1.00[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes]
rs4460351	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4483139	0.86[AMR][1000 genomes]
rs4483140	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4484683	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4500064	0.82[AMR][1000 genomes]
rs4510842	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4576412	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs4623400	0.85[AMR][1000 genomes]
rs4871451	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs4871452	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs4871453	0.80[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs4871454	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs4871457	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs4871458	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs4871459	0.80[CEU][hapmap]
rs4871460	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4871461	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871462	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59583746	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6470216	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470217	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470218	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6470219	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470220	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6470221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983060	0.80[CEU][hapmap]
rs6984093	0.80[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6987082	0.91[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991629	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7001300	0.80[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs7003992	0.80[CEU][hapmap]
rs7005123	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7007739	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs7009406	1.00[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7010375	1.00[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs7012186	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7013226	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815620	0.92[ASW][hapmap];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];0.95[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815768	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816075	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7822018	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];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822412	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7822557	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7825506	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826405	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7827412	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7831422	0.80[CEU][hapmap];0.95[TSI][hapmap]
rs7832499	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7836974	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7840702	0.80[CEU][hapmap]
rs7842213	0.80[CEU][hapmap]
rs9297683	0.91[EUR][1000 genomes]
rs9297684	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9297685	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9643188	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[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
rs4430074	WDYHV1	cis	cerebellum	SCAN

Chromatin state (count:23 , 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	chr8:125115200-125117400	Enhancers	NH-A	brain
4	chr8:125115200-125117800	Enhancers	HSMM	muscle
5	chr8:125115200-125117800	Enhancers	NHDF-Ad	bronchial
6	chr8:125115200-125118000	Enhancers	HMEC	breast
7	chr8:125115400-125118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125115400-125118000	Enhancers	NHEK	skin
9	chr8:125115600-125118000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125115800-125117800	Enhancers	Fetal Intestine Small	intestine
11	chr8:125116000-125117600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125116000-125117800	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:125116000-125117800	Enhancers	Fetal Intestine Large	intestine
14	chr8:125116000-125117800	Enhancers	HSMMtube	muscle
15	chr8:125116000-125118000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:125116200-125117600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125116200-125121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:125116600-125117600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:125117000-125120200	Weak transcription	HepG2	liver
20	chr8:125117200-125117600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:125117200-125117800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:125117200-125117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:125117200-125118200	Genic enhancers	Stomach Mucosa	stomach

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