Variant report

Variant	rs2128023
Chromosome Location	chr3:99051310-99051311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs13067862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383845	0.81[ASN][1000 genomes]
rs1383855	0.81[ASN][1000 genomes]
rs1383857	0.86[ASN][1000 genomes]
rs1383858	0.81[ASN][1000 genomes]
rs1383859	0.81[ASN][1000 genomes]
rs1406542	0.81[ASN][1000 genomes]
rs1406543	0.81[ASN][1000 genomes]
rs1481527	0.94[EUR][1000 genomes]
rs1481530	0.81[ASN][1000 genomes]
rs1481531	0.86[ASN][1000 genomes]
rs1481541	0.81[ASN][1000 genomes]
rs1481542	0.81[ASN][1000 genomes]
rs1481545	0.81[ASN][1000 genomes]
rs1481546	0.81[ASN][1000 genomes]
rs1481547	0.86[ASN][1000 genomes]
rs1481548	0.86[ASN][1000 genomes]
rs1481549	0.81[ASN][1000 genomes]
rs1580367	0.81[ASN][1000 genomes]
rs1871790	0.81[ASN][1000 genomes]
rs2062042	0.86[ASN][1000 genomes]
rs2219969	0.81[ASN][1000 genomes]
rs2341815	0.87[EUR][1000 genomes]
rs2448967	0.81[ASN][1000 genomes]
rs2448969	0.81[ASN][1000 genomes]
rs2464138	0.81[ASN][1000 genomes]
rs2464139	0.81[ASN][1000 genomes]
rs2464148	0.81[ASN][1000 genomes]
rs2464150	0.86[ASN][1000 genomes]
rs2470690	0.86[ASN][1000 genomes]
rs2623319	0.81[ASN][1000 genomes]
rs2623320	0.81[ASN][1000 genomes]
rs2623321	0.81[ASN][1000 genomes]
rs2623324	0.81[ASN][1000 genomes]
rs2623325	0.81[ASN][1000 genomes]
rs2623326	0.81[ASN][1000 genomes]
rs2623327	0.81[ASN][1000 genomes]
rs2623328	0.81[ASN][1000 genomes]
rs2623329	0.81[ASN][1000 genomes]
rs2623330	0.81[ASN][1000 genomes]
rs2623331	0.81[ASN][1000 genomes]
rs2623332	0.81[ASN][1000 genomes]
rs2623333	0.81[ASN][1000 genomes]
rs2623334	0.81[ASN][1000 genomes]
rs2623338	0.81[ASN][1000 genomes]
rs2623339	0.81[ASN][1000 genomes]
rs2623340	0.81[ASN][1000 genomes]
rs2623342	0.81[ASN][1000 genomes]
rs2623344	0.81[ASN][1000 genomes]
rs2623345	0.86[ASN][1000 genomes]
rs2623346	0.81[ASN][1000 genomes]
rs2623347	0.81[ASN][1000 genomes]
rs2623348	0.81[ASN][1000 genomes]
rs2623349	0.81[ASN][1000 genomes]
rs2623350	0.81[ASN][1000 genomes]
rs2623351	0.81[ASN][1000 genomes]
rs2623363	0.81[ASN][1000 genomes]
rs2623364	0.81[ASN][1000 genomes]
rs2623369	0.86[ASN][1000 genomes]
rs2623371	0.81[ASN][1000 genomes]
rs2623372	0.81[ASN][1000 genomes]
rs2623373	0.81[ASN][1000 genomes]
rs2623375	0.81[ASN][1000 genomes]
rs2623377	0.86[ASN][1000 genomes]
rs2700589	0.86[ASN][1000 genomes]
rs2700590	0.81[ASN][1000 genomes]
rs2700591	0.86[ASN][1000 genomes]
rs2700592	0.81[ASN][1000 genomes]
rs2700593	0.81[ASN][1000 genomes]
rs2700594	0.81[ASN][1000 genomes]
rs2700595	0.81[ASN][1000 genomes]
rs2700602	0.81[ASN][1000 genomes]
rs2700608	0.81[ASN][1000 genomes]
rs2700609	0.85[ASN][1000 genomes]
rs2700610	0.81[ASN][1000 genomes]
rs2700611	0.81[ASN][1000 genomes]
rs2700612	0.86[ASN][1000 genomes]
rs2700622	0.81[ASN][1000 genomes]
rs2700623	0.81[ASN][1000 genomes]
rs2700624	0.81[ASN][1000 genomes]
rs2700625	0.86[ASN][1000 genomes]
rs2700636	0.81[ASN][1000 genomes]
rs2700637	0.81[ASN][1000 genomes]
rs2700638	0.86[ASN][1000 genomes]
rs2700642	0.81[ASN][1000 genomes]
rs2700646	0.81[ASN][1000 genomes]
rs2700649	0.81[ASN][1000 genomes]
rs2700667	0.82[CEU][hapmap]
rs2700671	0.81[ASN][1000 genomes]
rs2700672	0.81[ASN][1000 genomes]
rs2880157	0.93[EUR][1000 genomes]
rs2929433	0.81[ASN][1000 genomes]
rs2929434	0.81[ASN][1000 genomes]
rs2929435	0.81[ASN][1000 genomes]
rs2929437	0.81[ASN][1000 genomes]
rs2929438	0.86[ASN][1000 genomes]
rs2929441	0.81[ASN][1000 genomes]
rs2929442	0.81[ASN][1000 genomes]
rs2929444	0.81[ASN][1000 genomes]
rs2951490	0.81[ASN][1000 genomes]
rs2951491	0.81[ASN][1000 genomes]
rs2951492	0.81[ASN][1000 genomes]
rs2960090	0.86[ASN][1000 genomes]
rs2960092	0.81[ASN][1000 genomes]
rs2960093	0.81[ASN][1000 genomes]
rs34794291	0.86[ASN][1000 genomes]
rs35410350	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4365660	0.81[ASN][1000 genomes]
rs4530567	0.81[ASN][1000 genomes]
rs6440536	0.87[EUR][1000 genomes]
rs6440538	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440540	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6440541	0.92[EUR][1000 genomes]
rs6798863	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6807371	0.81[ASN][1000 genomes]
rs71313533	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744189	0.81[ASN][1000 genomes]
rs767808	0.81[ASN][1000 genomes]
rs900058	0.86[ASN][1000 genomes]
rs969004	0.86[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	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2128023	COL8A1	cis	parietal	SCAN
rs2128023	CORO6	trans	cerebellum	SCAN
rs2128023	OR5AC2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99050000-99055200	Weak transcription	Aorta	Aorta
2	chr3:99050000-99056600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:99050200-99051400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:99050600-99051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:99050800-99052000	Enhancers	HUVEC	blood vessel
6	chr3:99050800-99052200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:99051200-99051400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:99051200-99051400	Enhancers	NH-A	brain
9	chr3:99051200-99051400	Enhancers	Osteobl	bone
10	chr3:99051200-99051600	Enhancers	NHDF-Ad	bronchial
11	chr3:99051200-99051800	Enhancers	HSMMtube	muscle

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