Variant report

Variant	rs73048386
Chromosome Location	chr2:183451759-183451760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183165936..183166478-chr2:183451147..183451888,2	MCF-7	breast:
2	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:52)

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]
rs16823144	1.00[EUR][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]
rs61069172	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]
rs73050409	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:7 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183446800-183451800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:183447000-183451800	Weak transcription	Osteobl	bone
3	chr2:183449800-183452600	Weak transcription	Fetal Heart	heart
4	chr2:183451000-183452000	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:183451000-183453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:183451000-183453200	Enhancers	HSMMtube	muscle
7	chr2:183451000-183453400	Enhancers	NHDF-Ad	bronchial
8	chr2:183451200-183451800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183451200-183452200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:183451200-183453000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:183451200-183453000	Enhancers	HSMM	muscle
12	chr2:183451200-183453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183451400-183451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:183451400-183452000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:183451400-183452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:183451400-183452400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:183451600-183452200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:183451600-183453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:183451600-183453400	Enhancers	NHLF	lung

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