Variant report

Variant	rs17817512
Chromosome Location	chr15:33986096-33986097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11072621	0.86[CHB][hapmap]
rs12913815	0.85[EUR][1000 genomes]
rs12915242	0.93[EUR][1000 genomes]
rs34543208	0.97[EUR][1000 genomes]
rs4779638	0.86[CHB][hapmap]
rs4779644	1.00[YRI][hapmap]
rs4780162	0.86[CHB][hapmap]
rs6495216	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17817512	HERC2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33957800-33992000	Weak transcription	Brain Anterior Caudate	brain
2	chr15:33966800-33990000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:33973400-33988400	Weak transcription	Aorta	Aorta
4	chr15:33973800-33988400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:33976600-33990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:33985400-33986200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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Input of quick search could be:

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

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