Variant report

Variant	rs12406050
Chromosome Location	chr1:190192868-190192869
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	chr1:190191940..190193562-chr1:190194974..190197595,2	K562	blood:

Variant related genes	Relation type
ENSG00000162670	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10047048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10218638	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10494632	0.94[ASN][1000 genomes]
rs10800937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10920611	0.85[ASN][1000 genomes]
rs10920655	0.94[ASN][1000 genomes]
rs10920677	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10920680	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12057206	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12059561	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12072689	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12072690	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12073139	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12073296	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12076854	0.94[ASN][1000 genomes]
rs12090879	0.94[ASN][1000 genomes]
rs12093349	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12095582	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12407537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333319	0.94[ASN][1000 genomes]
rs1333320	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1333322	0.92[ASN][1000 genomes]
rs13374608	0.90[ASN][1000 genomes]
rs1342909	0.96[ASN][1000 genomes]
rs1539473	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1592245	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16832159	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16832178	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16832195	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1832963	0.96[ASN][1000 genomes]
rs1970123	0.88[ASN][1000 genomes]
rs2065557	0.94[ASN][1000 genomes]
rs2095171	0.96[ASN][1000 genomes]
rs2104927	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2418886	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2419063	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35941447	0.94[ASN][1000 genomes]
rs3849278	0.95[AMR][1000 genomes]
rs4399162	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845230	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60812740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61818779	0.81[AMR][1000 genomes]
rs6665930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674508	0.90[ASN][1000 genomes]
rs74128893	0.94[ASN][1000 genomes]
rs879963	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs954744	0.85[AFR][1000 genomes];0.96[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	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917005	chr1:189855484-190259380	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1003035	chr1:190123195-190291554	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv872756	chr1:190164775-190287713	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv947352	chr1:190184771-190195175	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 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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