Variant report

Variant	rs2299492
Chromosome Location	chr7:126306495-126306496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126296023..126300010-chr7:126305457..126308211,3	K562	blood:
2	7:126303661-126307399..7:127009457-127018926	K562	blood:
3	7:126085913-126088095..7:126303661-126307399	GM12878	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1008905	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1024417	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1024418	0.86[ASN][1000 genomes]
rs10279616	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11760596	0.85[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs12538632	0.85[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs12667118	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671690	0.83[ASN][1000 genomes]
rs12706737	0.83[ASN][1000 genomes]
rs12706739	0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs13227344	0.81[ASN][1000 genomes]
rs13234319	0.82[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs13241597	0.83[ASN][1000 genomes]
rs13241983	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs13243112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419482	1.00[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs1419483	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs1579214	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1815973	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1833071	0.83[ASN][1000 genomes]
rs2073863	0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs2237761	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs2237764	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237765	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2283068	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283069	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299460	0.85[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs2299493	0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]
rs2299497	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2299498	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2402820	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs2896374	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34261190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009695	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36198401	0.83[ASN][1000 genomes]
rs3808152	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808153	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4728051	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4731317	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap]
rs4731320	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs4731321	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467088	0.81[ASN][1000 genomes]
rs6467089	0.83[ASN][1000 genomes]
rs6960925	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs7803165	0.83[CHB][hapmap]

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

No data

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

No data

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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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