Variant report

Variant	rs7708183
Chromosome Location	chr5:58800680-58800681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6861842	1.00[YRI][hapmap]
rs7717248	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58787000-58803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58790200-58801200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:58796600-58813200	Weak transcription	Psoas Muscle	Psoas
4	chr5:58798200-58801000	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:58799600-58801200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58799800-58809000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58800200-58800800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:58800400-58800800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:58800400-58801000	Enhancers	Fetal Brain Male	brain
10	chr5:58800400-58801800	Genic enhancers	A549	lung
11	chr5:58800600-58801400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:58800600-58801800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:58800600-58815000	Weak transcription	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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