Variant report

Variant	rs7599083
Chromosome Location	chr2:100658077-100658078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10209110	0.94[ASN][1000 genomes]
rs10211595	0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10496344	0.81[CEU][hapmap]
rs1062143	0.96[ASN][1000 genomes]
rs11123804	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123805	0.98[ASN][1000 genomes]
rs11123810	0.81[CEU][hapmap]
rs1115910	0.99[ASN][1000 genomes]
rs11681737	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11681966	0.81[CEU][hapmap]
rs11685341	0.81[ASN][1000 genomes]
rs11690905	0.81[CEU][hapmap]
rs12712062	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712063	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12995420	0.97[ASN][1000 genomes]
rs12996621	0.81[ASN][1000 genomes]
rs12997584	0.98[ASN][1000 genomes]
rs13003982	0.85[CEU][hapmap]
rs13033732	0.81[ASN][1000 genomes]
rs1370356	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1821828	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1821829	0.85[ASN][1000 genomes]
rs2309748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2576678	0.91[ASN][1000 genomes]
rs2871326	0.96[ASN][1000 genomes]
rs34040706	0.81[ASN][1000 genomes]
rs35730185	0.81[ASN][1000 genomes]
rs35774174	0.81[ASN][1000 genomes]
rs6542905	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714788	0.93[ASN][1000 genomes]
rs6733895	0.94[ASN][1000 genomes]
rs6750720	0.88[ASN][1000 genomes]
rs6754099	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7558817	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7582731	0.93[ASN][1000 genomes]
rs7605430	0.99[ASN][1000 genomes]
rs9308833	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs961788	0.99[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100633600-100660600	Weak transcription	Lung	lung
2	chr2:100637200-100658400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:100639000-100660600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:100644600-100668400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100646400-100662600	Weak transcription	Gastric	stomach
6	chr2:100648200-100666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:100651800-100659600	Weak transcription	Left Ventricle	heart
8	chr2:100652800-100661400	Weak transcription	Ovary	ovary
9	chr2:100653200-100667200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:100654800-100668200	Weak transcription	Thymus	Thymus
11	chr2:100655800-100661800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:100656000-100659000	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100656200-100658800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100656400-100658400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:100656600-100658400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:100656600-100658400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:100656600-100658800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:100656800-100658600	Enhancers	Fetal Brain Female	brain
21	chr2:100656800-100662800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:100657000-100661000	Weak transcription	Fetal Heart	heart
23	chr2:100657200-100661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:100657400-100658400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:100657400-100658600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:100657400-100659800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:100657600-100658200	Enhancers	Fetal Lung	lung
28	chr2:100657600-100660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:100657800-100658800	Enhancers	Brain Germinal Matrix	brain
30	chr2:100657800-100659000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100657800-100664400	Enhancers	Fetal Brain Male	brain
32	chr2:100658000-100658200	Enhancers	Brain Substantia Nigra	brain
33	chr2:100658000-100660000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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