Variant report

Variant	rs2013083
Chromosome Location	chr7:120678262-120678263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120677015..120682377-chr7:120716797..120724177,13	K562	blood:
2	chr7:120670213..120673148-chr7:120677345..120680325,2	K562	blood:
3	chr7:120677155..120680507-chr7:120717086..120719349,5	K562	blood:
4	chr7:120673145..120676419-chr7:120676732..120680540,5	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10229719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258025	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12672149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193727	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2013087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215786	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215789	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2525735	0.82[AMR][1000 genomes]
rs2525738	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2525739	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2525740	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2721359	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2721361	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2896299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3944026	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41691	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41692	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41693	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41694	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41695	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41697	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41698	0.93[ASN][1000 genomes]
rs41703	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41704	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4727915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953795	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966297	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6973457	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789501	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808535	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2013083	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120666600-120683600	Weak transcription	Liver	Liver
2	chr7:120669000-120678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:120670400-120681600	Weak transcription	HSMM	muscle
4	chr7:120673200-120678800	Weak transcription	NHLF	lung
5	chr7:120673200-120681600	Weak transcription	Fetal Stomach	stomach
6	chr7:120673200-120685200	Weak transcription	Left Ventricle	heart
7	chr7:120673400-120678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:120673400-120681400	Weak transcription	NHDF-Ad	bronchial
9	chr7:120673400-120681600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:120673400-120681600	Weak transcription	Ovary	ovary
11	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
12	chr7:120673600-120678600	Weak transcription	Fetal Heart	heart
13	chr7:120673600-120678800	Weak transcription	Adipose Nuclei	Adipose
14	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:120677400-120680600	Transcr. at gene 5' and 3'	K562	blood
16	chr7:120677600-120678600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:120678200-120678800	Enhancers	Psoas Muscle	Psoas
18	chr7:120678200-120679000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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