Variant report

Variant	rs57575441
Chromosome Location	chr7:40318188-40318189
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10224001	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10227273	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227399	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10231582	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10231838	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10231959	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10237281	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10245165	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10247300	0.80[ASN][1000 genomes]
rs10248078	0.83[ASN][1000 genomes]
rs10251283	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252609	0.83[ASN][1000 genomes]
rs10258258	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10260853	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10261911	0.83[ASN][1000 genomes]
rs10265671	0.81[ASN][1000 genomes]
rs10265895	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10266351	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10266722	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268749	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268863	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10270125	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10270438	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10278370	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280605	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10951628	0.81[ASN][1000 genomes]
rs10951629	0.88[ASN][1000 genomes]
rs10951630	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951633	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11763124	0.83[ASN][1000 genomes]
rs11764459	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764497	0.88[ASN][1000 genomes]
rs11766698	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11773447	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773663	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977946	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12538240	0.94[ASN][1000 genomes]
rs12668394	0.83[ASN][1000 genomes]
rs12669315	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12701807	0.83[ASN][1000 genomes]
rs12701810	0.81[ASN][1000 genomes]
rs12701812	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12701815	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13227773	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13235423	0.81[ASN][1000 genomes]
rs13235432	0.81[ASN][1000 genomes]
rs13244588	0.83[ASN][1000 genomes]
rs13247751	0.83[ASN][1000 genomes]
rs13247974	0.83[ASN][1000 genomes]
rs17171668	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17171672	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948791	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422303	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28477494	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28637571	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2901707	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3980358	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129803	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4398808	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4433031	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4478481	0.85[ASN][1000 genomes]
rs4480017	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4571645	0.83[ASN][1000 genomes]
rs4585651	0.81[ASN][1000 genomes]
rs4637704	0.81[ASN][1000 genomes]
rs4720355	0.81[ASN][1000 genomes]
rs4723938	0.88[ASN][1000 genomes]
rs4723946	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55648745	0.83[ASN][1000 genomes]
rs6462966	0.88[ASN][1000 genomes]
rs6462967	0.86[ASN][1000 genomes]
rs6462970	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944348	0.82[ASN][1000 genomes]
rs6946123	0.81[ASN][1000 genomes]
rs6946980	0.87[ASN][1000 genomes]
rs6960480	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961025	0.81[ASN][1000 genomes]
rs6961146	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961151	0.81[ASN][1000 genomes]
rs6962341	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963317	0.83[ASN][1000 genomes]
rs6967242	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979118	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778070	0.83[ASN][1000 genomes]
rs7791590	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798925	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800400	0.84[ASN][1000 genomes]
rs7802836	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952750	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9638951	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9639834	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv887986	chr7:40311382-40425140	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40304400-40323600	Weak transcription	HepG2	liver
2	chr7:40312000-40337000	Weak transcription	HSMM	muscle
3	chr7:40313600-40319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:40316600-40318800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:40317400-40344600	Weak transcription	Aorta	Aorta

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