Variant report

Variant	rs10227273
Chromosome Location	chr7:40355334-40355335
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40348620..40350328-chr7:40353767..40356702,2	K562	blood:
2	chr7:40334583..40336119-chr7:40353617..40356349,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10224001	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10227399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231582	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10231838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10231959	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10245165	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10247300	0.84[ASN][1000 genomes]
rs10248078	0.85[ASN][1000 genomes]
rs10251283	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10252609	0.85[ASN][1000 genomes]
rs10258258	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10260853	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261911	0.85[ASN][1000 genomes]
rs10262201	0.82[ASN][1000 genomes]
rs10265671	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10265895	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10266351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266722	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10268749	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10268863	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10270438	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278370	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10280605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951628	0.84[ASN][1000 genomes]
rs10951629	0.83[ASN][1000 genomes]
rs10951630	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951633	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762020	0.81[ASN][1000 genomes]
rs11763124	0.87[ASN][1000 genomes]
rs11764459	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764497	0.83[ASN][1000 genomes]
rs11766698	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773447	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773663	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11977946	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538240	0.88[ASN][1000 genomes]
rs12668394	0.85[ASN][1000 genomes]
rs12669315	0.89[ASN][1000 genomes]
rs12701807	0.85[ASN][1000 genomes]
rs12701810	0.84[ASN][1000 genomes]
rs12701812	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12701815	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13227773	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13235423	0.84[ASN][1000 genomes]
rs13235432	0.84[ASN][1000 genomes]
rs13244588	0.85[ASN][1000 genomes]
rs13247751	0.85[ASN][1000 genomes]
rs13247974	0.85[ASN][1000 genomes]
rs17171668	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17171672	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1948791	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329771	0.82[ASN][1000 genomes]
rs2422303	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28477494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28637571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2901707	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3980358	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4129803	0.84[ASN][1000 genomes]
rs4398808	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433031	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4478481	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4480017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4571645	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4585651	0.84[ASN][1000 genomes]
rs4637704	0.84[ASN][1000 genomes]
rs4720355	0.84[ASN][1000 genomes]
rs4723935	0.81[ASN][1000 genomes]
rs4723936	0.81[ASN][1000 genomes]
rs4723938	0.83[ASN][1000 genomes]
rs4723946	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55648745	0.85[ASN][1000 genomes]
rs57205249	0.81[ASN][1000 genomes]
rs57575441	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58664838	0.81[ASN][1000 genomes]
rs61003774	0.81[ASN][1000 genomes]
rs6462966	0.83[ASN][1000 genomes]
rs6462967	0.83[ASN][1000 genomes]
rs6462970	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67382823	0.81[ASN][1000 genomes]
rs6944348	0.84[ASN][1000 genomes]
rs6946123	0.84[ASN][1000 genomes]
rs6946980	0.82[ASN][1000 genomes]
rs6955478	0.81[ASN][1000 genomes]
rs6956802	0.82[ASN][1000 genomes]
rs6960480	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961025	0.84[ASN][1000 genomes]
rs6961146	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6961151	0.84[ASN][1000 genomes]
rs6962341	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6963317	0.85[ASN][1000 genomes]
rs6964864	0.82[ASN][1000 genomes]
rs6967242	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6979118	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131776	0.81[ASN][1000 genomes]
rs7778070	0.87[ASN][1000 genomes]
rs7791590	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7798925	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7800400	0.86[ASN][1000 genomes]
rs7802836	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952750	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638951	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639834	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv520748	chr7:40332518-40425140	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1017909	chr7:40337109-40427634	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40350800-40355600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:40350800-40355800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:40354400-40356600	Enhancers	HSMM	muscle
4	chr7:40354800-40355400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:40354800-40355400	Enhancers	HSMMtube	muscle
6	chr7:40354800-40355600	Enhancers	NH-A	brain
7	chr7:40354800-40355800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:40354800-40356200	Enhancers	Osteobl	bone
9	chr7:40355000-40355400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:40355000-40355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:40355000-40356000	Enhancers	NHEK	skin
12	chr7:40355000-40356200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40355000-40356200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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