Variant report

Variant	rs2501123
Chromosome Location	chr1:225199745-225199746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225116575..225119201-chr1:225198743..225201718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10399841	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10915782	0.81[AMR][1000 genomes]
rs10915783	0.81[AMR][1000 genomes]
rs10915787	0.81[AMR][1000 genomes]
rs12075556	0.81[AMR][1000 genomes]
rs12080027	0.81[AMR][1000 genomes]
rs12561993	0.82[ASN][1000 genomes]
rs12563033	0.82[ASN][1000 genomes]
rs12563857	0.82[ASN][1000 genomes]
rs12565929	0.81[AMR][1000 genomes]
rs12566857	0.81[ASN][1000 genomes]
rs12567499	0.81[ASN][1000 genomes]
rs12568142	0.82[ASN][1000 genomes]
rs1482279	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1506070	0.82[ASN][1000 genomes]
rs1506072	0.86[AFR][1000 genomes]
rs1580956	0.83[AFR][1000 genomes]
rs1587980	0.82[ASN][1000 genomes]
rs1842331	0.81[AMR][1000 genomes]
rs1905113	0.82[ASN][1000 genomes]
rs1905114	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1905115	0.81[ASN][1000 genomes]
rs1905117	0.81[ASN][1000 genomes]
rs1982707	0.81[ASN][1000 genomes]
rs2449257	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2449259	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2449260	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2449262	0.80[AFR][1000 genomes]
rs2449273	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449274	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449275	0.85[AFR][1000 genomes]
rs2449276	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449277	0.81[AFR][1000 genomes]
rs2449278	0.85[AFR][1000 genomes]
rs2449280	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449284	0.82[AFR][1000 genomes]
rs2449292	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2449302	0.80[AFR][1000 genomes]
rs2449311	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449313	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2449315	0.84[AFR][1000 genomes]
rs2449316	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2449320	0.81[AFR][1000 genomes]
rs2449327	0.81[AMR][1000 genomes]
rs2456335	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2456338	0.83[AFR][1000 genomes]
rs2456339	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2456340	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2456343	0.85[AFR][1000 genomes]
rs2456346	0.84[AFR][1000 genomes]
rs2489300	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489302	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2489317	0.82[AFR][1000 genomes]
rs2489318	0.82[AFR][1000 genomes]
rs2489319	0.82[AFR][1000 genomes]
rs2489321	0.82[AFR][1000 genomes]
rs2489322	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489324	0.84[AFR][1000 genomes]
rs2489325	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489328	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489330	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489331	0.80[AFR][1000 genomes]
rs2489332	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489334	0.80[AFR][1000 genomes]
rs2489336	0.80[AFR][1000 genomes]
rs2489341	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2489344	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2501061	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501064	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501066	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501068	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2501072	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501073	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501081	0.83[AMR][1000 genomes]
rs2501113	0.83[AFR][1000 genomes]
rs2501117	0.85[AFR][1000 genomes]
rs2501120	0.87[AFR][1000 genomes]
rs2501121	0.85[AFR][1000 genomes]
rs2501122	0.85[AFR][1000 genomes]
rs2501125	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2501127	0.91[AFR][1000 genomes]
rs2501128	0.81[AFR][1000 genomes]
rs2501129	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2501130	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501134	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501135	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501140	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501141	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2501143	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2501153	0.86[AMR][1000 genomes]
rs2501156	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2929627	0.85[AFR][1000 genomes]
rs2929629	0.82[AFR][1000 genomes]
rs2929632	0.83[AFR][1000 genomes]
rs3101905	0.81[AMR][1000 genomes]
rs55761817	0.81[ASN][1000 genomes]
rs55786647	0.81[ASN][1000 genomes]
rs55876129	0.82[ASN][1000 genomes]
rs55962425	0.82[ASN][1000 genomes]
rs61041116	0.81[AMR][1000 genomes]
rs6674717	0.81[AMR][1000 genomes]
rs6697156	0.82[ASN][1000 genomes]
rs7523949	0.81[ASN][1000 genomes]
rs7531542	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1804634	chr1:225137134-225206826	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873225	chr1:225162060-225373936	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv549262	chr1:225191852-225319898	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225157600-225201400	Weak transcription	Pancreas	Pancrea
2	chr1:225184600-225202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:225187000-225203600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:225190400-225201400	Weak transcription	Gastric	stomach
5	chr1:225192600-225203400	Weak transcription	Ovary	ovary
6	chr1:225199200-225201800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:225199400-225207000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:225199600-225203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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