Variant report

Variant	rs58519606
Chromosome Location	chr6:13512767-13512768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13508787..13510378-chr6:13511004..13513571,2	K562	blood:
2	chr6:13355838..13357537-chr6:13511461..13514141,2	K562	blood:
3	chr6:13493859..13496685-chr6:13512133..13514978,2	K562	blood:
4	chr6:13511916..13513600-chr6:13535489..13538424,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10452593	1.00[EUR][1000 genomes]
rs11967747	1.00[EUR][1000 genomes]
rs12193241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560766	1.00[EUR][1000 genomes]
rs28854810	1.00[EUR][1000 genomes]
rs57091985	1.00[EUR][1000 genomes]
rs57461916	1.00[EUR][1000 genomes]
rs57591512	1.00[AMR][1000 genomes]
rs58064210	1.00[EUR][1000 genomes]
rs58327896	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58379964	1.00[EUR][1000 genomes]
rs58726900	1.00[EUR][1000 genomes]
rs60136918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60607722	1.00[EUR][1000 genomes]
rs61376161	1.00[EUR][1000 genomes]
rs6458823	1.00[EUR][1000 genomes]
rs6910375	1.00[EUR][1000 genomes]
rs73356408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73356416	1.00[EUR][1000 genomes]
rs73356419	1.00[EUR][1000 genomes]
rs73356424	1.00[EUR][1000 genomes]
rs73356428	1.00[EUR][1000 genomes]
rs73356430	1.00[EUR][1000 genomes]
rs73356433	1.00[EUR][1000 genomes]
rs73356438	1.00[EUR][1000 genomes]
rs73356451	1.00[EUR][1000 genomes]
rs73356458	1.00[EUR][1000 genomes]
rs73356463	1.00[EUR][1000 genomes]
rs73366959	1.00[EUR][1000 genomes]
rs73366967	1.00[EUR][1000 genomes]
rs73372840	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372862	1.00[EUR][1000 genomes]
rs73372865	1.00[EUR][1000 genomes]
rs73372868	1.00[EUR][1000 genomes]
rs73372873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9370103	1.00[EUR][1000 genomes]
rs9474318	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13510000-13513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:13510200-13513600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:13511200-13512800	Enhancers	Right Ventricle	heart
4	chr6:13511200-13512800	Enhancers	Spleen	Spleen
5	chr6:13511400-13513000	Enhancers	Adipose Nuclei	Adipose
6	chr6:13511600-13512800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr6:13511600-13512800	Enhancers	Fetal Muscle Leg	muscle
8	chr6:13511600-13513000	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:13511800-13512800	Enhancers	Fetal Heart	heart
10	chr6:13511800-13512800	Enhancers	Fetal Stomach	stomach
11	chr6:13512000-13512800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:13512000-13512800	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:13512000-13512800	Enhancers	NHLF	lung
14	chr6:13512400-13512800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:13512400-13512800	Enhancers	Lung	lung
16	chr6:13512400-13512800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:13512400-13513000	Flanking Active TSS	Colonic Mucosa	Colon
18	chr6:13512400-13513000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:13512400-13513000	Active TSS	Right Atrium	heart
20	chr6:13512400-13513200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:13512600-13512800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:13512600-13512800	Enhancers	Small Intestine	intestine
23	chr6:13512600-13517000	Weak transcription	HUVEC	blood vessel

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