Variant report

Variant	rs2501122
Chromosome Location	chr1:225200755-225200756
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	chr1:225116575..225119201-chr1:225198743..225201718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1078794	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1395115	1.00[AMR][1000 genomes]
rs1482279	0.82[AFR][1000 genomes]
rs1580956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856828	0.83[AMR][1000 genomes]
rs1905114	0.82[AFR][1000 genomes]
rs2449262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449264	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449271	1.00[AMR][1000 genomes]
rs2449272	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449273	0.84[AFR][1000 genomes]
rs2449274	0.84[AFR][1000 genomes]
rs2449275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449276	0.85[AFR][1000 genomes]
rs2449277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449280	0.85[AFR][1000 genomes]
rs2449283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449286	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449292	0.81[AFR][1000 genomes]
rs2449294	1.00[AMR][1000 genomes]
rs2449302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449309	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2449311	0.84[AFR][1000 genomes]
rs2449312	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449313	0.84[AFR][1000 genomes]
rs2449314	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449317	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449319	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449321	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449324	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456335	0.84[AFR][1000 genomes]
rs2456338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456339	0.84[AFR][1000 genomes]
rs2456340	0.84[AFR][1000 genomes]
rs2456343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456346	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2456352	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489299	1.00[AMR][1000 genomes]
rs2489307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489309	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489315	1.00[AMR][1000 genomes]
rs2489316	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489322	0.82[AFR][1000 genomes]
rs2489323	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489325	0.81[AFR][1000 genomes]
rs2489326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489328	0.81[AFR][1000 genomes]
rs2489329	1.00[AMR][1000 genomes]
rs2489330	0.81[AFR][1000 genomes]
rs2489331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489332	0.81[AFR][1000 genomes]
rs2489333	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489335	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489340	1.00[AMR][1000 genomes]
rs2489342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489347	0.92[AMR][1000 genomes]
rs2489349	1.00[AMR][1000 genomes]
rs2489350	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489351	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489354	0.91[AMR][1000 genomes]
rs2489356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489357	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489358	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489360	1.00[AMR][1000 genomes]
rs2501065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501067	0.82[AFR][1000 genomes]
rs2501069	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501074	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501079	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501123	0.85[AFR][1000 genomes]
rs2501124	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501125	0.81[AFR][1000 genomes]
rs2501128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501129	0.82[AFR][1000 genomes]
rs2501130	0.82[AFR][1000 genomes]
rs2501136	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501137	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2501142	1.00[AMR][1000 genomes]
rs2501144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501148	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501150	1.00[AMR][1000 genomes]
rs2501152	1.00[AMR][1000 genomes]
rs2501157	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2516334	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2929627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2929629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2929632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2939367	0.89[AFR][1000 genomes]
rs3128647	0.83[AMR][1000 genomes]
rs6426164	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6693680	0.91[AMR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes]
rs9426103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9426104	0.82[AFR][1000 genomes]
rs9426147	1.00[AMR][1000 genomes]
rs9426156	1.00[AMR][1000 genomes]
rs9426159	0.91[AMR][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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