Variant report

Variant	rs2534787
Chromosome Location	chr12:4315220-4315221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2534780	0.83[ASN][1000 genomes]
rs2540128	0.85[ASN][1000 genomes]

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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2534787	WNT5B	cis	parietal	SCAN
rs2534787	LAG3	cis	cerebellum	SCAN
rs2534787	USP5	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4309000-4315400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:4311400-4315600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:4312400-4315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4313200-4315600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4313800-4316000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4313800-4319200	Weak transcription	GM12878-XiMat	blood
7	chr12:4314000-4318200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:4314200-4315600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:4314600-4315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:4314600-4317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:4314600-4317800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:4314600-4317800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:4314600-4323200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:4314800-4318000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:4315200-4315600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:4315200-4315600	Weak transcription	Primary B cells from cord blood	blood

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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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