Variant report

Variant	rs2299493
Chromosome Location	chr7:126307297-126307298
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126306649..126309044-chr7:126341202..126342980,4	K562	blood:
2	chr7:126296023..126300010-chr7:126305457..126308211,3	K562	blood:
3	7:126303661-126307399..7:127009457-127018926	K562	blood:
4	chr7:126300744..126304591-chr7:126306524..126308654,3	K562	blood:
5	7:126085913-126088095..7:126303661-126307399	GM12878	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1008905	0.83[CHD][hapmap]
rs10254233	0.86[TSI][hapmap]
rs10255379	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10279616	0.80[CHD][hapmap]
rs12706739	0.80[CHD][hapmap]
rs12706740	0.91[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13243112	0.86[CHB][hapmap];0.81[YRI][hapmap];0.86[ASN][1000 genomes]
rs1361983	0.86[TSI][hapmap]
rs1361985	0.86[TSI][hapmap]
rs1361986	0.91[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1419482	0.80[CHD][hapmap]
rs1419496	0.86[TSI][hapmap]
rs1579214	0.83[CHD][hapmap]
rs1815973	0.83[CHD][hapmap]
rs2237761	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283069	0.83[CHD][hapmap]
rs2299492	0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]
rs2299497	0.82[JPT][hapmap]
rs2402820	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896374	0.82[CHD][hapmap]
rs34261190	0.85[ASN][1000 genomes]
rs3808154	0.83[TSI][hapmap]
rs3824014	0.91[JPT][hapmap]
rs4728051	0.81[JPT][hapmap]
rs4731317	0.80[CHD][hapmap]
rs4731320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954055	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs6975231	0.90[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7792723	0.82[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7795337	0.86[TSI][hapmap]
rs7803165	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7808017	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7810270	0.86[TSI][hapmap]
rs8180790	0.85[ASN][1000 genomes]
rs9691497	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv5939	chr7:126279355-126322778	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2299493	UBE2H	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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