Variant report

Variant	rs6972582
Chromosome Location	chr7:53450856-53450857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11761016	0.84[ASN][1000 genomes]
rs11761614	0.84[ASN][1000 genomes]
rs11761795	1.00[ASN][1000 genomes]
rs11766659	0.81[ASN][1000 genomes]
rs11768111	0.84[ASN][1000 genomes]
rs11768720	0.82[ASN][1000 genomes]
rs11770603	1.00[ASN][1000 genomes]
rs11770833	0.84[ASN][1000 genomes]
rs11771546	0.84[ASN][1000 genomes]
rs11772242	0.84[ASN][1000 genomes]
rs11772319	0.84[ASN][1000 genomes]
rs11978823	1.00[ASN][1000 genomes]
rs17135695	1.00[ASN][1000 genomes]
rs17135696	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135700	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135704	1.00[ASN][1000 genomes]
rs4074189	0.84[ASN][1000 genomes]
rs4075711	0.84[ASN][1000 genomes]
rs4075712	0.84[ASN][1000 genomes]
rs4147414	0.84[ASN][1000 genomes]
rs55773349	0.84[ASN][1000 genomes]
rs57475157	0.84[ASN][1000 genomes]
rs58605364	0.84[ASN][1000 genomes]
rs62453979	0.84[ASN][1000 genomes]
rs62453980	0.84[ASN][1000 genomes]
rs62453981	0.84[ASN][1000 genomes]
rs62453982	0.84[ASN][1000 genomes]
rs62453983	0.84[ASN][1000 genomes]
rs62453984	0.84[ASN][1000 genomes]
rs62453985	0.84[ASN][1000 genomes]
rs62453986	0.84[ASN][1000 genomes]
rs62453987	0.84[ASN][1000 genomes]
rs62453988	0.84[ASN][1000 genomes]
rs62453990	0.82[ASN][1000 genomes]
rs6945931	0.93[ASN][1000 genomes]
rs6976204	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73363553	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73363560	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73380333	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73699879	1.00[ASN][1000 genomes]
rs73703019	0.84[ASN][1000 genomes]
rs9690458	0.84[ASN][1000 genomes]
rs9918624	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888034	chr7:53026365-53611898	Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1017269	chr7:53142462-53605487	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538846	chr7:53142462-53605487	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv888039	chr7:53232207-53611898	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1024141	chr7:53261344-53573135	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv607010	chr7:53262051-53570145	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2758114	chr7:53333024-53485016	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2759529	chr7:53333024-53485016	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv831003	chr7:53333129-53485016	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv888040	chr7:53360479-53602556	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv831005	chr7:53360623-53551869	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv888041	chr7:53438252-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv5748	chr7:53439364-53464873	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1017375	chr7:53444572-53482862	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv538848	chr7:53444572-53482862	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv8086	chr7:53449134-53452077	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv607011	chr7:53450856-53590250	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53447600-53451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53448000-53456600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:53450200-53451000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:53450800-53451400	Enhancers	Fetal Heart	heart

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