Variant report

Variant	rs12133813
Chromosome Location	chr1:57525481-57525482
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:6)

rs_ID	r²[population]
rs11206964	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12060287	1.00[CHB][hapmap]
rs149766	1.00[CHB][hapmap]
rs197612	1.00[CHB][hapmap]
rs534569	1.00[CHB][hapmap]
rs554795	1.00[CHB][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12133813	ARIH2	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57512800-57532400	Weak transcription	Fetal Brain Female	brain
5	chr1:57518200-57529000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57519600-57529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:57523800-57528000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:57523800-57532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:57524000-57526600	Enhancers	HepG2	liver
10	chr1:57524600-57525600	Enhancers	Fetal Heart	heart
11	chr1:57525000-57525600	Enhancers	Psoas Muscle	Psoas
12	chr1:57525200-57526200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:57525200-57528600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:57525400-57525600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:57525400-57526600	Weak transcription	Liver	Liver
16	chr1:57525400-57528400	Weak transcription	Left Ventricle	heart
17	chr1:57525400-57529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	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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