Variant report

Variant	rs1996984
Chromosome Location	chr2:100286090-100286091
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	chr2:100279081..100281750-chr2:100284821..100286807,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167554	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123790	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11684088	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12620982	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712049	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712054	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13029690	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1357719	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2030691	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030692	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030693	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049400	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177541	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177542	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2309729	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2871316	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3792129	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792130	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3792131	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4332968	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850910	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851220	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542884	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6738724	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745568	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6746146	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7561009	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579222	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868665	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9284724	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9308826	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308827	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678859	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679481	0.86[AFR][1000 genomes];0.83[AMR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
3	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:100274200-100297400	Weak transcription	Liver	Liver
7	chr2:100275800-100291000	Weak transcription	Lung	lung
8	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
9	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
10	chr2:100277800-100286400	Weak transcription	Pancreas	Pancrea
11	chr2:100279400-100295000	Weak transcription	Fetal Brain Male	brain
12	chr2:100280600-100287200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:100280800-100287400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:100282600-100308600	Weak transcription	Ovary	ovary
15	chr2:100282800-100291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100285200-100287800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:100285400-100286400	Weak transcription	Fetal Heart	heart
18	chr2:100285400-100286800	Strong transcription	Primary T cells from cord blood	blood
19	chr2:100285600-100286200	Weak transcription	NH-A	brain
20	chr2:100285800-100287000	Strong transcription	Dnd41	blood
21	chr2:100285800-100287800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:100285800-100290800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:100286000-100286400	Weak transcription	Fetal Lung	lung
24	chr2:100286000-100286600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:100286000-100294000	Weak transcription	Fetal Brain Female	brain
26	chr2:100286000-100297800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:100286000-100301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:100286000-100305600	Weak transcription	Fetal Thymus	thymus

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