Variant report

Variant	rs2746347
Chromosome Location	chr1:57126919-57126920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10789035	0.91[ASN][1000 genomes]
rs10888992	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10888993	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10889000	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10889004	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11206878	0.89[ASN][1000 genomes]
rs11206881	0.94[ASN][1000 genomes]
rs11206882	0.92[ASN][1000 genomes]
rs1539382	0.89[ASN][1000 genomes]
rs2746355	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs2796518	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4399186	0.94[ASN][1000 genomes]
rs4912407	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56022783	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6588640	0.81[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap]
rs857152	0.84[AMR][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	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	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Lymphocyte counts	22286170	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57120000-57132800	Weak transcription	Right Atrium	heart
2	chr1:57122400-57129200	Weak transcription	Psoas Muscle	Psoas
3	chr1:57122800-57128600	Weak transcription	HepG2	liver
4	chr1:57122800-57169600	Weak transcription	Ovary	ovary
5	chr1:57123000-57131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
7	chr1:57123000-57142000	Weak transcription	A549	lung
8	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:57125400-57127200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
11	chr1:57126200-57127000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:57126400-57130400	Weak transcription	Fetal Heart	heart
13	chr1:57126600-57127000	Enhancers	Right Ventricle	heart
14	chr1:57126800-57128800	Weak transcription	Left Ventricle	heart

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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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