Variant report

Variant	rs7611473
Chromosome Location	chr3:83164627-83164628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11706528	0.81[ASN][1000 genomes]
rs12636715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1482636	0.86[ASN][1000 genomes]
rs56341112	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6794586	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6799067	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7618878	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9864509	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830308	chr3:82741198-83269730	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv877048	chr3:82869089-83324183	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv877051	chr3:82888913-83324183	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv877055	chr3:83039277-83324183	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1003667	chr3:83041379-83203406	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv877056	chr3:83053687-83169976	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv877057	chr3:83053687-83207518	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv877058	chr3:83053687-83215801	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv877059	chr3:83053687-83251399	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv877060	chr3:83053687-83269730	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv877061	chr3:83053687-83272291	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1000506	chr3:83057096-83188062	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv1008268	chr3:83057096-83476080	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv536608	chr3:83057096-83476080	Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv998408	chr3:83057096-83549271	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv536609	chr3:83057096-83549271	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv460736	chr3:83094746-83244246	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv590807	chr3:83094746-83244246	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv877062	chr3:83099073-83324183	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv877063	chr3:83115725-83324183	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv877064	chr3:83124229-83251399	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv877065	chr3:83124229-83269730	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv877066	chr3:83124229-83324183	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv433216	chr3:83128414-83207518	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv877067	chr3:83130081-83324183	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv3895	chr3:83140094-83185048	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv529000	chr3:83141602-83244246	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv460737	chr3:83141602-83305448	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv590808	chr3:83141602-83305448	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
30	esv3374471	chr3:83143311-83168622	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
31	esv3324557	chr3:83153978-83450434	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	nsv470694	chr3:83154414-83425479	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7611473	GBE1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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