Variant report

Variant	rs17473470
Chromosome Location	chr13:50772685-50772686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50769169..50772786-chr13:50775972..50780141,4	MCF-7	breast:
2	chr13:50771156..50773406-chr13:50779661..50781302,2	K562	blood:
3	chr13:50770244..50772691-chr13:50774559..50776373,2	MCF-7	breast:
4	chr13:50771832..50773637-chr13:50785707..50787827,2	MCF-7	breast:
5	chr13:50769446..50774611-chr13:50774663..50778768,6	K562	blood:
6	chr13:50772216..50774413-chr13:50876498..50878979,2	K562	blood:
7	chr13:50767172..50769004-chr13:50771663..50774055,2	K562	blood:
8	chr13:50771906..50774458-chr13:50779802..50781441,2	K562	blood:

No data

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1016159	1.00[AMR][1000 genomes]
rs17074018	1.00[EUR][1000 genomes]
rs17074037	1.00[AMR][1000 genomes]
rs17361000	1.00[AMR][1000 genomes]
rs17361588	1.00[AMR][1000 genomes]
rs17394379	1.00[AMR][1000 genomes]
rs17395876	1.00[AMR][1000 genomes]
rs17459931	1.00[AMR][1000 genomes]
rs17460070	1.00[AMR][1000 genomes]
rs17460097	1.00[AMR][1000 genomes]
rs17462949	1.00[AMR][1000 genomes]
rs17473491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17474237	1.00[AMR][1000 genomes]
rs17587177	1.00[AMR][1000 genomes]
rs61082117	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50761200-50776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:50767000-50782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:50767000-50783000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50767200-50777400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:50767600-50782800	Weak transcription	Gastric	stomach
7	chr13:50767800-50782800	Weak transcription	Colonic Mucosa	Colon
8	chr13:50769600-50774400	Strong transcription	HepG2	liver
9	chr13:50770400-50773800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr13:50770600-50773200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:50770800-50783000	Weak transcription	Spleen	Spleen
12	chr13:50771600-50773000	Enhancers	Fetal Heart	heart
13	chr13:50771800-50772800	Enhancers	NHDF-Ad	bronchial
14	chr13:50771800-50773000	Enhancers	K562	blood
15	chr13:50771800-50773200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50771800-50773200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr13:50772000-50772800	Enhancers	Right Atrium	heart
18	chr13:50772000-50772800	Enhancers	NHLF	lung
19	chr13:50772000-50773000	Enhancers	Hela-S3	cervix
20	chr13:50772200-50773000	Enhancers	HUVEC	blood vessel
21	chr13:50772200-50773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:50772200-50773200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr13:50772200-50773200	Enhancers	HMEC	breast
24	chr13:50772400-50773000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:50772400-50773000	Enhancers	Osteobl	bone
26	chr13:50772400-50773200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr13:50772400-50774400	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:50772600-50773000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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