Variant report

Variant	rs2782763
Chromosome Location	chr1:71142202-71142203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12073510	0.84[ASN][1000 genomes]
rs1334995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs17131372	0.81[ASN][1000 genomes]
rs1932057	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1932061	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2152125	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2782762	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2782764	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2782808	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2820529	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2820532	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2992053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2992054	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61778683	0.84[ASN][1000 genomes]
rs72684717	0.82[ASN][1000 genomes]

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	nsv871024	chr1:71088106-71169865	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv517877	chr1:71137936-71142202	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv523991	chr1:71142168-71142202	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv526237	chr1:71142168-71145822	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2782763	TNNI3K	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71139000-71145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:71139400-71143200	Weak transcription	Ovary	ovary
3	chr1:71139800-71142400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:71140400-71142400	Flanking Active TSS	K562	blood
5	chr1:71140600-71143000	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:71140800-71142400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:71140800-71142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:71141000-71142400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr1:71141600-71142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:71141800-71142400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:71141800-71142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:71142000-71142400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:71142000-71142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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