Variant report

Variant	rs212718
Chromosome Location	chr2:32461833-32461834
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32459736..32462357-chr2:32463296..32464848,2	K562	blood:
2	chr2:32451081..32452778-chr2:32461639..32463751,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11124276	0.87[EUR][1000 genomes]
rs11124277	0.87[EUR][1000 genomes]
rs11681731	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11686061	0.87[EUR][1000 genomes]
rs12474443	0.86[EUR][1000 genomes]
rs12617289	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12617290	0.89[EUR][1000 genomes]
rs12620922	0.80[EUR][1000 genomes]
rs1265340	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1265341	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022197	0.90[EUR][1000 genomes]
rs212678	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs212695	0.88[EUR][1000 genomes]
rs212698	0.84[EUR][1000 genomes]
rs212699	0.85[EUR][1000 genomes]
rs212701	0.85[EUR][1000 genomes]
rs212714	0.83[EUR][1000 genomes]
rs212715	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212716	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212717	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212721	0.83[EUR][1000 genomes]
rs212722	0.89[EUR][1000 genomes]
rs212723	0.90[EUR][1000 genomes]
rs212724	0.93[EUR][1000 genomes]
rs212725	0.93[EUR][1000 genomes]
rs212726	0.93[EUR][1000 genomes]
rs212727	0.93[EUR][1000 genomes]
rs212728	0.93[EUR][1000 genomes]
rs212730	0.93[EUR][1000 genomes]
rs212731	0.93[EUR][1000 genomes]
rs212732	0.80[EUR][1000 genomes]
rs212733	0.90[EUR][1000 genomes]
rs212734	0.83[EUR][1000 genomes]
rs212735	0.93[EUR][1000 genomes]
rs212737	0.93[EUR][1000 genomes]
rs212739	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs212745	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212746	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212760	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2235134	0.90[EUR][1000 genomes]
rs2365558	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2566483	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34856365	0.82[EUR][1000 genomes]
rs36014814	0.81[EUR][1000 genomes]
rs374743	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769604	0.86[EUR][1000 genomes]
rs408813	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs428002	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs430759	0.85[EUR][1000 genomes]
rs435572	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs443609	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455060	0.93[EUR][1000 genomes]
rs466126	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs472101	0.81[ASN][1000 genomes]
rs479333	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494569	0.90[EUR][1000 genomes]
rs4952247	0.88[EUR][1000 genomes]
rs4952249	0.85[EUR][1000 genomes]
rs4952250	0.89[EUR][1000 genomes]
rs56740303	0.81[EUR][1000 genomes]
rs56861054	0.97[ASN][1000 genomes]
rs59966205	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62134033	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6543649	0.89[EUR][1000 genomes]
rs659239	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738349	0.85[EUR][1000 genomes]
rs6747488	0.86[EUR][1000 genomes]
rs6760105	0.82[EUR][1000 genomes]
rs7559964	0.88[EUR][1000 genomes]
rs7561519	0.86[EUR][1000 genomes]
rs7566162	0.87[EUR][1000 genomes]
rs7573543	0.90[EUR][1000 genomes]
rs7577408	0.80[EUR][1000 genomes]
rs7581032	0.88[EUR][1000 genomes]
rs7581340	0.89[EUR][1000 genomes]
rs7605242	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:32448200-32462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:32448800-32465400	Weak transcription	Osteobl	bone
7	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
8	chr2:32448800-32475600	Weak transcription	Lung	lung
9	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:32449000-32463200	Weak transcription	HSMMtube	muscle
11	chr2:32451400-32462800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:32451400-32463200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:32451400-32466400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:32451600-32462000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:32451600-32463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:32451600-32464000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:32451600-32464000	Weak transcription	NH-A	brain
18	chr2:32451600-32464800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:32451600-32466200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:32451600-32466400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:32451600-32475600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:32451800-32467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:32452000-32475400	Weak transcription	Spleen	Spleen
24	chr2:32452200-32463200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:32452200-32466400	Weak transcription	Liver	Liver
26	chr2:32452200-32467400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:32452200-32468200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:32452200-32479400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:32452600-32467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:32457400-32465000	Weak transcription	A549	lung
31	chr2:32458200-32462200	Weak transcription	Primary B cells from cord blood	blood
32	chr2:32460000-32462200	Strong transcription	HSMM	muscle
33	chr2:32460000-32477000	Weak transcription	Placenta	Placenta
34	chr2:32461200-32464000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:32461600-32462200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:32461600-32462800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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