Variant report

Variant	rs57948301
Chromosome Location	chr7:84679252-84679253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10085820	1.00[AMR][1000 genomes]
rs10216037	1.00[AMR][1000 genomes]
rs10224192	1.00[AMR][1000 genomes]
rs10226288	1.00[AMR][1000 genomes]
rs10227790	1.00[AMR][1000 genomes]
rs10229365	1.00[AMR][1000 genomes]
rs10229476	1.00[AMR][1000 genomes]
rs10229726	1.00[AMR][1000 genomes]
rs10230012	1.00[AMR][1000 genomes]
rs10230209	1.00[AMR][1000 genomes]
rs10231169	1.00[AMR][1000 genomes]
rs10231227	1.00[AMR][1000 genomes]
rs10234337	1.00[AMR][1000 genomes]
rs10235044	1.00[AMR][1000 genomes]
rs10235804	1.00[AMR][1000 genomes]
rs10238552	1.00[AMR][1000 genomes]
rs10238803	1.00[AMR][1000 genomes]
rs10239054	1.00[AMR][1000 genomes]
rs10241357	1.00[AMR][1000 genomes]
rs10242005	1.00[AMR][1000 genomes]
rs10242855	1.00[AMR][1000 genomes]
rs10243021	1.00[AMR][1000 genomes]
rs10243755	1.00[AMR][1000 genomes]
rs10243828	1.00[AMR][1000 genomes]
rs10243859	1.00[AMR][1000 genomes]
rs10247729	1.00[AMR][1000 genomes]
rs10248781	1.00[AMR][1000 genomes]
rs10249004	1.00[AMR][1000 genomes]
rs10250111	1.00[AMR][1000 genomes]
rs10252528	1.00[AMR][1000 genomes]
rs10252836	1.00[AMR][1000 genomes]
rs10253565	1.00[AMR][1000 genomes]
rs10253650	1.00[AMR][1000 genomes]
rs10254493	1.00[AMR][1000 genomes]
rs10254645	1.00[AMR][1000 genomes]
rs10254905	1.00[AMR][1000 genomes]
rs10256352	1.00[AMR][1000 genomes]
rs10256709	1.00[AMR][1000 genomes]
rs10256725	1.00[AMR][1000 genomes]
rs10256947	1.00[AMR][1000 genomes]
rs10257078	1.00[AMR][1000 genomes]
rs10257324	1.00[AMR][1000 genomes]
rs10258219	1.00[AMR][1000 genomes]
rs10258244	1.00[AMR][1000 genomes]
rs10264103	1.00[AMR][1000 genomes]
rs10268505	1.00[AMR][1000 genomes]
rs10269671	1.00[AMR][1000 genomes]
rs10271353	1.00[AMR][1000 genomes]
rs10271605	1.00[AMR][1000 genomes]
rs10273523	1.00[AMR][1000 genomes]
rs10273534	1.00[AMR][1000 genomes]
rs10273650	1.00[AMR][1000 genomes]
rs10275794	1.00[AMR][1000 genomes]
rs10276443	1.00[AMR][1000 genomes]
rs10277419	1.00[AMR][1000 genomes]
rs10279991	1.00[AMR][1000 genomes]
rs10282093	1.00[AMR][1000 genomes]
rs12334236	1.00[AMR][1000 genomes]
rs13438389	1.00[AMR][1000 genomes]
rs1430595	1.00[AMR][1000 genomes]
rs17148268	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159553	1.00[AMR][1000 genomes]
rs17159580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159589	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159607	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159609	1.00[AMR][1000 genomes]
rs1830384	1.00[AMR][1000 genomes]
rs1830385	1.00[AMR][1000 genomes]
rs1830386	1.00[AMR][1000 genomes]
rs1835404	1.00[AMR][1000 genomes]
rs1919288	1.00[AMR][1000 genomes]
rs1919289	1.00[AMR][1000 genomes]
rs2178116	1.00[AMR][1000 genomes]
rs28366993	1.00[AMR][1000 genomes]
rs28379695	1.00[AMR][1000 genomes]
rs28395450	1.00[AMR][1000 genomes]
rs28412718	1.00[AMR][1000 genomes]
rs28428821	1.00[AMR][1000 genomes]
rs28450350	1.00[AMR][1000 genomes]
rs28451585	1.00[AMR][1000 genomes]
rs28457219	1.00[AMR][1000 genomes]
rs28503172	1.00[AMR][1000 genomes]
rs28576399	1.00[AMR][1000 genomes]
rs28610512	1.00[AMR][1000 genomes]
rs28618178	1.00[AMR][1000 genomes]
rs28648964	1.00[AMR][1000 genomes]
rs28667540	1.00[AMR][1000 genomes]
rs28715185	1.00[AMR][1000 genomes]
rs41518350	1.00[AMR][1000 genomes]
rs4398846	1.00[AMR][1000 genomes]
rs57698546	1.00[AMR][1000 genomes]
rs58279956	1.00[AMR][1000 genomes]
rs59738022	0.95[AFR][1000 genomes]
rs9655926	1.00[AMR][1000 genomes]
rs9655927	1.00[AMR][1000 genomes]
rs9656563	1.00[AMR][1000 genomes]
rs9886001	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	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
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84656200-84694800	Weak transcription	Fetal Stomach	stomach
2	chr7:84664600-84680200	Weak transcription	Fetal Lung	lung
3	chr7:84671400-84680200	Weak transcription	Fetal Kidney	kidney
4	chr7:84676400-84683600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:84676400-84694800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:84678200-84679400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:84678400-84689800	Weak transcription	Aorta	Aorta
8	chr7:84678600-84679400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:84678800-84679400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:84678800-84679600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:84679000-84679400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:84679000-84679400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:84679000-84683800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:84679200-84682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:84679200-84692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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