Variant report

Variant	rs1029978
Chromosome Location	chr7:120129659-120129660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10233829	0.99[ASN][1000 genomes]
rs10245507	0.97[ASN][1000 genomes]
rs10274789	1.00[ASN][1000 genomes]
rs10275068	0.99[ASN][1000 genomes]
rs10276390	0.97[ASN][1000 genomes]
rs10279267	0.87[ASN][1000 genomes]
rs10279812	1.00[ASN][1000 genomes]
rs10488298	0.91[ASN][1000 genomes]
rs10488299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953918	0.97[ASN][1000 genomes]
rs11761401	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980474	0.88[ASN][1000 genomes]
rs12531042	0.97[ASN][1000 genomes]
rs12531730	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12536754	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12666810	0.90[ASN][1000 genomes]
rs17132703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041679	0.97[ASN][1000 genomes]
rs2041680	0.97[ASN][1000 genomes]
rs58738977	0.97[ASN][1000 genomes]
rs59732893	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62473168	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466748	0.99[ASN][1000 genomes]
rs66473061	0.92[ASN][1000 genomes]
rs66597280	0.90[ASN][1000 genomes]
rs67181710	0.91[ASN][1000 genomes]
rs68060610	0.90[ASN][1000 genomes]
rs6948806	1.00[ASN][1000 genomes]
rs6966670	1.00[ASN][1000 genomes]
rs702414	0.88[ASN][1000 genomes]
rs702415	0.81[ASN][1000 genomes]
rs723908	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785421	0.97[ASN][1000 genomes]
rs7785571	0.86[ASN][1000 genomes]
rs7788666	0.97[ASN][1000 genomes]
rs7798075	0.99[ASN][1000 genomes]
rs7809573	0.97[ASN][1000 genomes]
rs802332	0.81[ASN][1000 genomes]
rs802334	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802335	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802337	0.80[ASN][1000 genomes]
rs802338	0.91[ASN][1000 genomes]
rs802339	0.91[ASN][1000 genomes]
rs802340	0.85[ASN][1000 genomes]
rs802344	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802345	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802346	0.88[ASN][1000 genomes]
rs802347	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802348	0.88[ASN][1000 genomes]
rs802349	0.88[ASN][1000 genomes]
rs802350	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs802351	0.88[ASN][1000 genomes]
rs802352	0.88[ASN][1000 genomes]
rs802353	0.88[ASN][1000 genomes]
rs802354	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802355	0.88[ASN][1000 genomes]
rs802356	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802357	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802358	0.88[ASN][1000 genomes]
rs802359	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs802360	0.87[ASN][1000 genomes]
rs802362	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802365	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802370	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802373	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802374	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802376	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs802377	0.91[ASN][1000 genomes]
rs802378	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9641639	0.92[ASN][1000 genomes]
rs9641640	0.91[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	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv889116	chr7:120098304-120180671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv889117	chr7:120122040-120266458	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120121200-120131200	Weak transcription	GM12878-XiMat	blood
2	chr7:120122600-120139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120127800-120139400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:120127800-120141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:120128000-120130600	Weak transcription	H1 Cell Line	embryonic stem cell

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