Variant report

Variant	rs73195220
Chromosome Location	chr7:111883257-111883258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10046468	1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	1.00[ASN][1000 genomes]
rs10239663	1.00[ASN][1000 genomes]
rs10243005	1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	1.00[ASN][1000 genomes]
rs10276727	0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	1.00[ASN][1000 genomes]
rs10281805	1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	1.00[ASN][1000 genomes]
rs1047551	1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	1.00[ASN][1000 genomes]
rs12534930	1.00[ASN][1000 genomes]
rs12537934	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159353	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	1.00[ASN][1000 genomes]
rs17402962	1.00[ASN][1000 genomes]
rs17491423	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	1.00[ASN][1000 genomes]
rs28532417	1.00[ASN][1000 genomes]
rs2894646	1.00[ASN][1000 genomes]
rs3109106	1.00[ASN][1000 genomes]
rs3109108	1.00[ASN][1000 genomes]
rs3109116	1.00[ASN][1000 genomes]
rs3109117	1.00[ASN][1000 genomes]
rs3128395	1.00[ASN][1000 genomes]
rs35134215	1.00[ASN][1000 genomes]
rs41281060	0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	1.00[ASN][1000 genomes]
rs6949234	1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969176	1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73193000	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195204	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	1.00[ASN][1000 genomes]
rs73197363	1.00[ASN][1000 genomes]
rs73197366	1.00[ASN][1000 genomes]
rs73197367	1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	1.00[ASN][1000 genomes]
rs7812188	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
4	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
7	chr7:111879600-111888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
9	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:111883000-111883400	Enhancers	HepG2	liver
12	chr7:111883200-111883800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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