Variant report

Variant	rs660692
Chromosome Location	chr5:41592223-41592224
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	chr5:41585351..41589024-chr5:41590720..41593383,4	K562	blood:
2	chr5:41585351..41588248-chr5:41591011..41592652,2	K562	blood:

Variant related genes	Relation type
ENSG00000251478	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1027348	1.00[CEU][hapmap]
rs11744826	0.92[EUR][1000 genomes]
rs11747941	0.92[EUR][1000 genomes]
rs12109887	0.92[EUR][1000 genomes]
rs1423242	0.92[EUR][1000 genomes]
rs1423243	0.92[EUR][1000 genomes]
rs167583	0.92[EUR][1000 genomes]
rs170299	0.92[EUR][1000 genomes]
rs188818	0.92[EUR][1000 genomes]
rs222224	0.92[EUR][1000 genomes]
rs2453241	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2656967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs316710	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs316711	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316712	0.92[EUR][1000 genomes]
rs316713	0.92[EUR][1000 genomes]
rs316714	0.92[EUR][1000 genomes]
rs316715	0.92[EUR][1000 genomes]
rs316729	0.92[EUR][1000 genomes]
rs316731	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316732	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316733	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316734	0.92[EUR][1000 genomes]
rs316743	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316746	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316747	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316748	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316749	0.92[EUR][1000 genomes]
rs316750	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs316754	0.92[EUR][1000 genomes]
rs316756	0.92[EUR][1000 genomes]
rs316757	0.92[EUR][1000 genomes]
rs316758	0.92[EUR][1000 genomes]
rs582920	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs583090	0.82[EUR][1000 genomes]
rs584067	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs590424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs590851	0.85[EUR][1000 genomes]
rs591384	1.00[CEU][hapmap]
rs602274	0.85[EUR][1000 genomes]
rs605064	0.89[EUR][1000 genomes]
rs607620	0.92[EUR][1000 genomes]
rs609410	0.92[EUR][1000 genomes]
rs61058110	0.85[EUR][1000 genomes]
rs614952	0.92[EUR][1000 genomes]
rs614990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621944	0.92[EUR][1000 genomes]
rs627476	0.92[EUR][1000 genomes]
rs636461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs636905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641270	0.92[EUR][1000 genomes]
rs654400	0.92[EUR][1000 genomes]
rs67041756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs675785	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs675812	0.92[EUR][1000 genomes]
rs676512	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs678061	0.87[EUR][1000 genomes]
rs679399	0.92[EUR][1000 genomes]
rs679548	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72746926	0.85[EUR][1000 genomes]
rs72746928	0.85[EUR][1000 genomes]
rs72746930	0.85[EUR][1000 genomes]
rs72746932	0.85[EUR][1000 genomes]
rs72758378	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760304	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761834	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7706652	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881563	chr5:41560079-41616100	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2753438	chr5:41571309-41600812	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462124	chr5:41585079-41596269	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv597880	chr5:41585079-41596269	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv881628	chr5:41585079-41600651	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3470450	chr5:41585589-41596580	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3470451	chr5:41585589-41596580	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv823059	chr5:41585612-41596478	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv524669	chr5:41586405-41596269	Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv818349	chr5:41586405-41596269	Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv1800641	chr5:41587271-41595104	Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv441952	chr5:41587271-41595104	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41588000-41596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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