Variant report

Variant	rs7600823
Chromosome Location	chr2:40128877-40128878
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40127848..40131758-chr2:40131769..40134520,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171743	1.00[EUR][1000 genomes]
rs10193939	1.00[EUR][1000 genomes]
rs10198341	0.92[EUR][1000 genomes]
rs11124722	0.92[EUR][1000 genomes]
rs11124728	1.00[EUR][1000 genomes]
rs11124731	1.00[EUR][1000 genomes]
rs1117015	1.00[EUR][1000 genomes]
rs12328526	1.00[AMR][1000 genomes]
rs12468217	1.00[EUR][1000 genomes]
rs12471474	1.00[EUR][1000 genomes]
rs12476283	1.00[EUR][1000 genomes]
rs12712674	1.00[EUR][1000 genomes]
rs13010575	1.00[EUR][1000 genomes]
rs13035505	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13427221	1.00[EUR][1000 genomes]
rs1548875	0.92[EUR][1000 genomes]
rs1861253	0.92[EUR][1000 genomes]
rs1861262	1.00[EUR][1000 genomes]
rs2024418	1.00[EUR][1000 genomes]
rs2024419	1.00[EUR][1000 genomes]
rs2192721	1.00[EUR][1000 genomes]
rs2215970	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2215979	1.00[EUR][1000 genomes]
rs2373785	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2373786	1.00[CEU][hapmap]
rs3944017	1.00[EUR][1000 genomes]
rs4245781	1.00[EUR][1000 genomes]
rs4670985	0.92[EUR][1000 genomes]
rs4952629	1.00[EUR][1000 genomes]
rs55705994	1.00[AMR][1000 genomes]
rs55885648	1.00[AMR][1000 genomes]
rs56357782	1.00[AMR][1000 genomes]
rs57093708	1.00[AMR][1000 genomes]
rs58460675	1.00[EUR][1000 genomes]
rs59235036	1.00[AMR][1000 genomes]
rs61129196	1.00[AMR][1000 genomes]
rs6544283	0.92[EUR][1000 genomes]
rs6544286	1.00[EUR][1000 genomes]
rs6544292	0.85[EUR][1000 genomes]
rs6544299	1.00[EUR][1000 genomes]
rs6544300	1.00[EUR][1000 genomes]
rs6712057	1.00[EUR][1000 genomes]
rs6732101	1.00[CEU][hapmap]
rs6732448	1.00[CEU][hapmap]
rs6733262	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747284	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs72934813	0.92[EUR][1000 genomes]
rs72938756	0.92[EUR][1000 genomes]
rs73927435	1.00[AMR][1000 genomes]
rs73927436	1.00[AMR][1000 genomes]
rs73927438	1.00[AMR][1000 genomes]
rs73927439	1.00[AMR][1000 genomes]
rs73927441	1.00[AMR][1000 genomes]
rs73927442	1.00[AMR][1000 genomes]
rs73927443	1.00[AMR][1000 genomes]
rs73927444	1.00[AMR][1000 genomes]
rs73927445	1.00[AMR][1000 genomes]
rs73927448	1.00[AMR][1000 genomes]
rs73927449	1.00[AMR][1000 genomes]
rs7565203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583651	1.00[EUR][1000 genomes]
rs7586599	1.00[EUR][1000 genomes]
rs7589081	0.92[EUR][1000 genomes]
rs7589354	0.80[YRI][hapmap]
rs7608457	1.00[AMR][1000 genomes]
rs7608671	1.00[AMR][1000 genomes]
rs917972	0.92[EUR][1000 genomes]
rs917978	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs917979	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs917981	1.00[EUR][1000 genomes]
rs9749791	0.92[EUR][1000 genomes]
rs981009	1.00[EUR][1000 genomes]
rs9967698	1.00[AMR][1000 genomes]
rs9967701	1.00[AMR][1000 genomes]
rs9967778	1.00[AMR][1000 genomes]
rs9967782	1.00[AMR][1000 genomes]
rs9967853	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv430947	chr2:40080723-40141649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873892	chr2:40102764-40139250	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv998885	chr2:40123904-40182851	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40128600-40129000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:40128800-40129000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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