Variant report

Variant	rs2030692
Chromosome Location	chr2:100287810-100287811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10167554	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123790	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11684088	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12620982	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12712049	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12712054	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13029690	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1357719	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1996984	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030691	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030693	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177541	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2177542	0.90[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	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792130	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3792131	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4332968	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850910	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851220	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851221	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542884	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6738724	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745568	0.90[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	0.93[AFR][1000 genomes];1.00[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	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9308826	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679481	0.87[AFR][1000 genomes];0.85[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:33 , 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	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:100274200-100297400	Weak transcription	Liver	Liver
6	chr2:100275800-100291000	Weak transcription	Lung	lung
7	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
8	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
9	chr2:100279400-100295000	Weak transcription	Fetal Brain Male	brain
10	chr2:100282600-100308600	Weak transcription	Ovary	ovary
11	chr2:100282800-100291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:100285800-100290800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100286000-100294000	Weak transcription	Fetal Brain Female	brain
14	chr2:100286000-100297800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:100286000-100301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:100286000-100305600	Weak transcription	Fetal Thymus	thymus
17	chr2:100286400-100289400	Enhancers	Fetal Heart	heart
18	chr2:100286400-100289800	Enhancers	Fetal Lung	lung
19	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:100286800-100288800	Weak transcription	Pancreas	Pancrea
21	chr2:100286800-100290200	Weak transcription	Primary T cells from cord blood	blood
22	chr2:100287000-100298200	Weak transcription	Dnd41	blood
23	chr2:100287400-100288600	Enhancers	Adipose Nuclei	Adipose
24	chr2:100287600-100289000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:100287800-100288000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:100287800-100288000	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr2:100287800-100288000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:100287800-100288000	Enhancers	Right Ventricle	heart
29	chr2:100287800-100288000	Enhancers	GM12878-XiMat	blood
30	chr2:100287800-100288400	Enhancers	NH-A	brain
31	chr2:100287800-100288800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:100287800-100290200	Genic enhancers	Primary B cells from cord blood	blood
33	chr2:100287800-100291600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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