Variant report

Variant	rs1830386
Chromosome Location	chr7:84502308-84502309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84500124..84502806-chr7:84508171..84509903,2	K562	blood:
2	chr7:84498248..84502734-chr7:84505735..84508151,4	K562	blood:

Variant related genes	Relation type
ENSG00000232605	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10085820	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10225298	0.84[AFR][1000 genomes]
rs10225557	0.84[AFR][1000 genomes]
rs10226288	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10226313	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227472	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229476	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229726	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231227	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234993	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235044	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239054	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241357	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243021	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243755	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243859	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244922	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247729	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248205	1.00[YRI][hapmap]
rs10248781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253650	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254493	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256352	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257078	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10260523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10264103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10264147	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268505	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269671	1.00[AMR][1000 genomes]
rs10271353	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10273650	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275794	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10276443	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279991	1.00[AMR][1000 genomes]
rs10282093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438389	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1430595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148268	1.00[AMR][1000 genomes]
rs17148271	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17159502	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17159553	1.00[AMR][1000 genomes]
rs17159580	1.00[AMR][1000 genomes]
rs17159589	1.00[AMR][1000 genomes]
rs17159590	1.00[AMR][1000 genomes]
rs17159596	1.00[AMR][1000 genomes]
rs17159599	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17159607	1.00[AMR][1000 genomes]
rs17159609	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1830384	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1830385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1835404	1.00[AMR][1000 genomes]
rs1919288	1.00[AMR][1000 genomes]
rs1919289	1.00[AMR][1000 genomes]
rs28366993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28379695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28395450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402803	0.83[AFR][1000 genomes]
rs28412718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28428821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457219	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28503172	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28576399	1.00[AMR][1000 genomes]
rs28610512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28618178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28648964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667540	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28715185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41518350	1.00[AMR][1000 genomes]
rs4398846	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57698546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57948301	1.00[AMR][1000 genomes]
rs58279956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992844	1.00[AMR][1000 genomes]
rs59572545	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9655926	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9655927	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9656563	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886001	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831050	chr7:84355996-84527261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84491400-84504400	Weak transcription	K562	blood

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