Variant report

Variant	rs58031484
Chromosome Location	chr2:110322236-110322237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110321272..110323476-chr2:110330973..110332963,2	MCF-7	breast:
2	chr2:110315553..110317822-chr2:110320975..110322550,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10195867	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696274	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3213866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34269507	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953848	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953849	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953853	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55794045	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6709945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6751785	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72824772	0.89[EUR][1000 genomes]
rs72824788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.85[EUR][1000 genomes]
rs9752531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
2	chr2:110293400-110352200	Weak transcription	Gastric	stomach
3	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
5	chr2:110299600-110324200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:110301400-110325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:110302000-110333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:110302400-110343000	Weak transcription	Psoas Muscle	Psoas
10	chr2:110307200-110322800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
13	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:110309800-110323000	Weak transcription	Aorta	Aorta
15	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
16	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
17	chr2:110310400-110323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:110310400-110323000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:110310400-110337800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:110310400-110338400	Weak transcription	Lung	lung
21	chr2:110310400-110342000	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
24	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:110310600-110341400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:110310800-110336800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:110312200-110326000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:110312200-110328400	Weak transcription	Ovary	ovary
30	chr2:110313400-110325200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:110313400-110337000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:110313600-110323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:110315200-110322800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:110315400-110324000	Strong transcription	Fetal Stomach	stomach
35	chr2:110316000-110323200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:110316200-110324000	Weak transcription	Fetal Kidney	kidney
37	chr2:110317000-110325000	Strong transcription	Fetal Lung	lung
38	chr2:110317000-110326800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:110317200-110323000	Weak transcription	Left Ventricle	heart
40	chr2:110317400-110323000	Weak transcription	GM12878-XiMat	blood
41	chr2:110317800-110322400	Enhancers	Osteobl	bone
42	chr2:110318200-110325400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:110318200-110338000	Weak transcription	NHEK	skin
44	chr2:110318200-110348400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:110318400-110324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:110318800-110323000	Weak transcription	Esophagus	oesophagus
47	chr2:110318800-110323000	Weak transcription	NH-A	brain
48	chr2:110318800-110323000	Weak transcription	NHDF-Ad	bronchial
49	chr2:110318800-110323600	Strong transcription	Colon Smooth Muscle	Colon
50	chr2:110318800-110328200	Weak transcription	H9 Cell Line	embryonic stem cell

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