Variant report

Variant	rs73050409
Chromosome Location	chr2:183460997-183460998
allele	C/T
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:50)

rs_ID	r²[population]
rs10180347	1.00[EUR][1000 genomes]
rs11887150	1.00[EUR][1000 genomes]
rs11891405	1.00[EUR][1000 genomes]
rs11891890	1.00[EUR][1000 genomes]
rs11892984	1.00[EUR][1000 genomes]
rs11893859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897675	1.00[EUR][1000 genomes]
rs11899043	1.00[EUR][1000 genomes]
rs11900878	1.00[EUR][1000 genomes]
rs11902391	1.00[EUR][1000 genomes]
rs11903253	1.00[EUR][1000 genomes]
rs13422439	1.00[EUR][1000 genomes]
rs1405945	1.00[EUR][1000 genomes]
rs1547586	0.91[AMR][1000 genomes]
rs16823168	1.00[EUR][1000 genomes]
rs16823171	1.00[EUR][1000 genomes]
rs16823184	1.00[EUR][1000 genomes]
rs16823199	1.00[EUR][1000 genomes]
rs16823220	1.00[EUR][1000 genomes]
rs16823249	1.00[EUR][1000 genomes]
rs16823277	1.00[EUR][1000 genomes]
rs16823319	1.00[EUR][1000 genomes]
rs16823398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34384812	1.00[EUR][1000 genomes]
rs34558843	1.00[EUR][1000 genomes]
rs35196240	1.00[EUR][1000 genomes]
rs36105371	1.00[EUR][1000 genomes]
rs4420678	1.00[EUR][1000 genomes]
rs4621137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57267003	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57829961	1.00[EUR][1000 genomes]
rs6724256	1.00[EUR][1000 genomes]
rs6725460	1.00[EUR][1000 genomes]
rs6731573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042483	1.00[EUR][1000 genomes]
rs73045406	1.00[EUR][1000 genomes]
rs73045415	1.00[EUR][1000 genomes]
rs73045418	1.00[EUR][1000 genomes]
rs73045422	1.00[EUR][1000 genomes]
rs73045434	1.00[EUR][1000 genomes]
rs73048386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050421	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73975018	1.00[EUR][1000 genomes]
rs7576178	1.00[EUR][1000 genomes]
rs7581210	1.00[EUR][1000 genomes]
rs7601239	1.00[EUR][1000 genomes]
rs825654	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv962053	chr2:183457346-183467152	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183456000-183461200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:183457200-183461000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:183457400-183461000	Enhancers	NHDF-Ad	bronchial
4	chr2:183457400-183461200	Enhancers	Osteobl	bone
5	chr2:183457400-183463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183457600-183461200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:183458600-183470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:183459200-183461000	Weak transcription	Aorta	Aorta
9	chr2:183459200-183462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:183459200-183462800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:183459600-183462800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:183460000-183461200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:183460200-183461200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:183460400-183461200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:183460400-183461200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:183460400-183461200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:183460600-183461200	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:183460800-183461000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:183460800-183461000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:183460800-183461000	Enhancers	HSMMtube	muscle
22	chr2:183460800-183461200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:183460800-183461200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:183460800-183461200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:183460800-183461200	Enhancers	HSMM	muscle
26	chr2:183460800-183461200	Enhancers	NHEK	skin

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