Variant report

Variant	rs865263
Chromosome Location	chr1:76134417-76134418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1068884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1093010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161785	1.00[AMR][1000 genomes]
rs11161801	1.00[AMR][1000 genomes]
rs1144330	1.00[AMR][1000 genomes]
rs1144332	1.00[AMR][1000 genomes]
rs1146575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1146576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1146578	1.00[AMR][1000 genomes]
rs1146586	1.00[AMR][1000 genomes]
rs1146604	1.00[AMR][1000 genomes]
rs1146633	1.00[AMR][1000 genomes]
rs1146640	1.00[AMR][1000 genomes]
rs1251271	1.00[AMR][1000 genomes]
rs1565718	1.00[AMR][1000 genomes]
rs1565719	1.00[AMR][1000 genomes]
rs1591119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1694408	1.00[AMR][1000 genomes]
rs1759276	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1770514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs211738	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs211739	1.00[AMR][1000 genomes]
rs2347963	1.00[AMR][1000 genomes]
rs3119821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392695	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699684	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699686	1.00[AMR][1000 genomes]
rs699688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988778	1.00[AMR][1000 genomes]
rs814846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs814852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs815300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs815302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs815312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv546583	chr1:76088392-76134765	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3500167	chr1:76132764-76136162	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3500169	chr1:76133214-76136012	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv10317	chr1:76133767-76135331	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3320247	chr1:76133794-76135105	Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv3320244	chr1:76133839-76135082	Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv3500168	chr1:76133849-76135121	Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3320245	chr1:76133858-76135066	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3500166	chr1:76133866-76135087	Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3320246	chr1:76133881-76135053	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3500165	chr1:76133895-76135087	Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv3500170	chr1:76133945-76135003	Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv3320248	chr1:76133949-76135001	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv3500171	chr1:76133949-76135001	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76129200-76136400	Weak transcription	HepG2	liver
2	chr1:76131200-76137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:76133800-76136600	Weak transcription	K562	blood

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