Variant report

Variant	rs6750720
Chromosome Location	chr2:100670745-100670746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10192951	0.80[ASN][1000 genomes]
rs10209110	0.88[ASN][1000 genomes]
rs10209201	0.85[ASN][1000 genomes]
rs10211595	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs1062143	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11123804	0.88[ASN][1000 genomes]
rs11123805	0.87[ASN][1000 genomes]
rs1115910	0.89[ASN][1000 genomes]
rs11681737	0.85[ASN][1000 genomes]
rs12712062	0.85[ASN][1000 genomes]
rs12712063	0.89[ASN][1000 genomes]
rs12995420	0.89[ASN][1000 genomes]
rs12996621	0.82[ASN][1000 genomes]
rs12997584	0.87[ASN][1000 genomes]
rs13001130	0.85[ASN][1000 genomes]
rs13001783	0.82[ASN][1000 genomes]
rs13033732	0.82[ASN][1000 genomes]
rs13402289	0.85[ASN][1000 genomes]
rs13402299	0.85[ASN][1000 genomes]
rs13430705	0.82[ASN][1000 genomes]
rs1370356	0.87[ASN][1000 genomes]
rs17023468	0.82[ASN][1000 genomes]
rs1821828	0.87[ASN][1000 genomes]
rs1821830	0.85[ASN][1000 genomes]
rs2118281	0.81[ASN][1000 genomes]
rs2309748	0.86[ASN][1000 genomes]
rs2576678	0.86[ASN][1000 genomes]
rs2871326	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34040706	0.82[ASN][1000 genomes]
rs34714421	0.82[ASN][1000 genomes]
rs35300735	0.85[ASN][1000 genomes]
rs35730185	0.82[ASN][1000 genomes]
rs35774174	0.82[ASN][1000 genomes]
rs35840153	0.85[ASN][1000 genomes]
rs35869550	0.82[ASN][1000 genomes]
rs4851243	0.81[ASN][1000 genomes]
rs4851244	0.85[ASN][1000 genomes]
rs56037757	0.82[ASN][1000 genomes]
rs56935201	0.81[ASN][1000 genomes]
rs58683655	0.83[ASN][1000 genomes]
rs59447631	0.82[ASN][1000 genomes]
rs60311127	0.82[ASN][1000 genomes]
rs60697219	0.82[ASN][1000 genomes]
rs6542905	0.88[ASN][1000 genomes]
rs6714788	0.86[ASN][1000 genomes]
rs6733895	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6754099	0.86[ASN][1000 genomes]
rs71413861	0.85[ASN][1000 genomes]
rs7558817	0.88[ASN][1000 genomes]
rs7572939	0.81[ASN][1000 genomes]
rs7582731	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7596359	0.84[ASN][1000 genomes]
rs7599083	0.88[ASN][1000 genomes]
rs7605430	0.89[ASN][1000 genomes]
rs9308833	0.90[ASN][1000 genomes]
rs961788	0.88[ASN][1000 genomes]
rs9784000	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:100659800-100671600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:100662200-100684800	Weak transcription	Ovary	ovary
7	chr2:100662800-100674200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
9	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
10	chr2:100663400-100671600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
12	chr2:100666400-100672800	Weak transcription	NH-A	brain
13	chr2:100666800-100671800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100666800-100675000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:100666800-100675800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:100667800-100671600	Weak transcription	Fetal Brain Male	brain
17	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:100668400-100670800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:100668400-100671000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:100669000-100671200	Weak transcription	Lung	lung
21	chr2:100669000-100672400	Weak transcription	Fetal Lung	lung
22	chr2:100669200-100672800	Weak transcription	Dnd41	blood
23	chr2:100669200-100673200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:100669400-100675400	Weak transcription	Thymus	Thymus
25	chr2:100669400-100676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:100669400-100681200	Weak transcription	Brain Germinal Matrix	brain
27	chr2:100669600-100672800	Weak transcription	Fetal Thymus	thymus
28	chr2:100669800-100680600	Weak transcription	Fetal Brain Female	brain
29	chr2:100670200-100671400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:100670200-100673600	Enhancers	Placenta	Placenta
31	chr2:100670400-100670800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:100670400-100671800	Enhancers	Gastric	stomach
33	chr2:100670600-100671000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:100670600-100671000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr2:100670600-100671200	Enhancers	Primary monocytes fromperipheralblood	blood

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