Variant report

Variant	rs73982556
Chromosome Location	chr2:205711934-205711935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55941034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57531270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58416129	1.00[AMR][1000 genomes]
rs59381758	1.00[AMR][1000 genomes]
rs60086789	1.00[AMR][1000 genomes]
rs60446736	1.00[AMR][1000 genomes]
rs61001089	1.00[AMR][1000 genomes]
rs61286794	1.00[AMR][1000 genomes]
rs6713878	1.00[AMR][1000 genomes]
rs6753755	1.00[AMR][1000 genomes]
rs73982523	1.00[AMR][1000 genomes]
rs73982525	1.00[AMR][1000 genomes]
rs73982529	1.00[AMR][1000 genomes]
rs73982531	1.00[AMR][1000 genomes]
rs73982532	1.00[AMR][1000 genomes]
rs73982587	1.00[AMR][1000 genomes]
rs73982600	1.00[AMR][1000 genomes]
rs73984428	1.00[AMR][1000 genomes]
rs73984429	1.00[AMR][1000 genomes]
rs73984430	1.00[AMR][1000 genomes]
rs73984488	1.00[AMR][1000 genomes]
rs73984489	1.00[AMR][1000 genomes]
rs73984490	1.00[AMR][1000 genomes]
rs7579299	1.00[AMR][1000 genomes]
rs7597714	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv3120	chr2:205695611-205713292	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3459948	chr2:205705963-205712223	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3459947	chr2:205706103-205712058	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3459949	chr2:205706103-205712058	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv12848	chr2:205706215-205711954	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205708200-205715400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:205708400-205715200	Weak transcription	Psoas Muscle	Psoas
4	chr2:205708400-205718000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:205708600-205715200	Weak transcription	Fetal Lung	lung
6	chr2:205708800-205712400	Weak transcription	HSMM	muscle
7	chr2:205710800-205712400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:205711000-205712600	Enhancers	NHEK	skin

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