Variant report

Variant	rs72700938
Chromosome Location	chr4:173050852-173050853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173048642..173050883-chr4:173054945..173057723,2	K562	blood:
2	chr4:173050386..173053411-chr4:173069490..173071981,3	K562	blood:
3	chr4:173050637..173053046-chr4:173107907..173109625,2	MCF-7	breast:
4	chr4:173049353..173051356-chr4:173063889..173066410,2	K562	blood:
5	chr4:173044514..173046349-chr4:173049744..173052591,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10022218	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024530	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780086	0.80[EUR][1000 genomes]
rs28691079	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56384225	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6553613	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67840347	0.95[EUR][1000 genomes]
rs6843195	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698967	1.00[AMR][1000 genomes]
rs72698968	1.00[AMR][1000 genomes]
rs72698971	1.00[AMR][1000 genomes]
rs72698973	1.00[AMR][1000 genomes]
rs72698977	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72698979	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72698980	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72698983	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72698985	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72700910	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72700930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700935	1.00[ASN][1000 genomes]
rs72700936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700968	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700976	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700992	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700993	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661465	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669963	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991231	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022527	chr4:172547732-173236939	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv537357	chr4:172547732-173236939	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1024693	chr4:172609237-173236939	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498033	chr4:172830955-173121438	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830152	chr4:172906364-173087067	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv980436	chr4:173005588-173060038	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv830153	chr4:173038006-173211957	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173043600-173052800	Weak transcription	K562	blood
2	chr4:173050200-173052800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:173050800-173051400	Enhancers	NHDF-Ad	bronchial

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