Variant report

Variant	rs13258930
Chromosome Location	chr8:125115963-125115964
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: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10094266	0.94[EUR][1000 genomes]
rs10094533	0.94[EUR][1000 genomes]
rs10102566	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10106600	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10113693	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10113772	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1073178	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1075051	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808530	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10808531	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956163	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10956164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984962	0.80[EUR][1000 genomes]
rs12375254	0.80[EUR][1000 genomes]
rs12541155	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12545670	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254252	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13254498	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13258808	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13261097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263969	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13269044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069078	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3886123	0.80[EUR][1000 genomes]
rs4294164	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4330676	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4345538	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4374969	0.82[AMR][1000 genomes]
rs4392878	0.80[EUR][1000 genomes]
rs4404895	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4410885	0.94[EUR][1000 genomes]
rs4412351	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4430074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446721	0.85[AMR][1000 genomes]
rs4460351	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4483139	0.86[AMR][1000 genomes]
rs4483140	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4484683	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4500064	0.82[AMR][1000 genomes]
rs4510842	0.93[EUR][1000 genomes]
rs4623400	0.85[AMR][1000 genomes]
rs4871453	0.80[EUR][1000 genomes]
rs4871457	0.80[EUR][1000 genomes]
rs4871460	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871461	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871462	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59583746	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6470216	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6470217	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6470218	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6470219	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470220	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6470221	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984093	0.80[EUR][1000 genomes]
rs6987082	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6991629	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7003992	0.80[EUR][1000 genomes]
rs7005123	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7007739	0.96[EUR][1000 genomes]
rs7009406	0.95[EUR][1000 genomes]
rs7010375	0.95[EUR][1000 genomes]
rs7012186	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013226	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815620	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816075	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7822018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7822412	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822557	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825506	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826405	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7827412	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7832499	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836974	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7840702	0.80[EUR][1000 genomes]
rs9297683	0.94[EUR][1000 genomes]
rs9297684	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9297685	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9643188	0.93[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

No data

Chromatin state (count:19 , 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	chr8:125110000-125116000	Weak transcription	Fetal Intestine Large	intestine
4	chr8:125111800-125116000	Weak transcription	Stomach Mucosa	stomach
5	chr8:125114000-125116000	Weak transcription	HSMMtube	muscle
6	chr8:125115200-125116600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:125115200-125117400	Enhancers	NH-A	brain
8	chr8:125115200-125117800	Enhancers	HSMM	muscle
9	chr8:125115200-125117800	Enhancers	NHDF-Ad	bronchial
10	chr8:125115200-125118000	Enhancers	HMEC	breast
11	chr8:125115400-125116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125115400-125116000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:125115400-125116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125115400-125118000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:125115400-125118000	Enhancers	NHEK	skin
16	chr8:125115600-125117000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:125115600-125118000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:125115800-125117000	Enhancers	HepG2	liver
19	chr8:125115800-125117800	Enhancers	Fetal Intestine Small	intestine

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