Variant report

Variant	rs17518099
Chromosome Location	chr12:40442330-40442331
allele	A/T
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:3)

rs_ID	r²[population]
rs2624248	1.00[JPT][hapmap]
rs28370662	1.00[JPT][hapmap]
rs28370666	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv558597	chr12:40414631-40442892	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv819704	chr12:40441985-40442875	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40405400-40445200	Weak transcription	K562	blood
3	chr12:40419000-40447600	Weak transcription	Hela-S3	cervix
4	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
5	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:40439600-40444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:40442200-40443400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:40442200-40447600	Weak transcription	A549	lung
10	chr12:40442200-40451400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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