Variant report

Variant	rs2030689
Chromosome Location	chr2:100282426-100282427
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]
rs10167100	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182731	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10183116	0.86[EUR][1000 genomes]
rs10185240	0.86[EUR][1000 genomes]
rs10189976	0.86[EUR][1000 genomes]
rs10205134	0.86[EUR][1000 genomes]
rs11123791	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123792	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676683	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901863	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12474603	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12712052	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1524366	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916959	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309728	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4325808	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4384839	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4410333	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4611689	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4850908	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4850911	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4850912	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4850913	0.83[AMR][1000 genomes]
rs4851222	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542886	0.80[ASN][1000 genomes]
rs6709165	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6719965	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6720070	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734773	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7557598	0.86[EUR][1000 genomes]
rs7560182	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7561948	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7566953	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870560	0.86[EUR][1000 genomes]
rs9679019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100255400-100285400	Weak transcription	Dnd41	blood
4	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
5	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
8	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:100274200-100297400	Weak transcription	Liver	Liver
10	chr2:100275800-100291000	Weak transcription	Lung	lung
11	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
12	chr2:100276600-100284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
14	chr2:100277800-100282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:100277800-100286400	Weak transcription	Pancreas	Pancrea
16	chr2:100278000-100285400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:100278200-100284800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:100279400-100295000	Weak transcription	Fetal Brain Male	brain
19	chr2:100280400-100285000	Weak transcription	Fetal Lung	lung
20	chr2:100280600-100287200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:100280800-100287400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:100281400-100282600	Enhancers	Ovary	ovary
23	chr2:100281400-100282800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:100281800-100282600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:100282000-100282600	Enhancers	Aorta	Aorta
26	chr2:100282200-100283400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:100282400-100282800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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