Variant report

Variant	rs12986507
Chromosome Location	chr2:173803681-173803682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10754979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465032	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619862	0.82[ASN][1000 genomes]
rs13023047	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16861062	1.00[ASN][1000 genomes]
rs17707776	1.00[ASN][1000 genomes]
rs1974922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972522	0.83[EUR][1000 genomes]
rs62174630	1.00[ASN][1000 genomes]
rs62174645	0.86[ASN][1000 genomes]
rs72894145	1.00[ASN][1000 genomes]
rs72894151	1.00[ASN][1000 genomes]
rs745288	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173796600-173809000	Weak transcription	Fetal Heart	heart
2	chr2:173798400-173805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173800400-173812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173800600-173829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173802800-173804000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:173803200-173804200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173803400-173808800	Weak transcription	Pancreas	Pancrea

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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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