Variant report

Variant	rs2216687
Chromosome Location	chr5:58723593-58723594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55874040	0.83[AFR][1000 genomes]
rs56386809	0.83[AFR][1000 genomes]
rs58029432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59524261	0.83[AFR][1000 genomes]
rs59983793	0.89[AFR][1000 genomes]
rs73758509	0.83[AFR][1000 genomes]
rs73758510	0.83[AFR][1000 genomes]
rs73758511	0.83[AFR][1000 genomes]
rs73758690	0.83[AFR][1000 genomes]
rs73758692	0.83[AFR][1000 genomes]
rs73758693	0.83[AFR][1000 genomes]
rs73758694	0.83[AFR][1000 genomes]
rs73758695	0.83[AFR][1000 genomes]
rs7735819	0.83[AFR][1000 genomes]
rs931856	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
3	chr5:58714800-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58719400-58723800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:58719400-58738400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:58720000-58728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:58720000-58730200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58720400-58726000	Weak transcription	Psoas Muscle	Psoas
10	chr5:58721800-58723600	Enhancers	Fetal Brain Male	brain
11	chr5:58722600-58725000	Enhancers	A549	lung
12	chr5:58722800-58727000	Active TSS	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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