Variant report

Variant	rs60588484
Chromosome Location	chr6:45578148-45578149
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:45566597..45569065-chr6:45577055..45579600,2	K562	blood:
2	chr6:45387446..45391966-chr6:45573986..45578620,7	MCF-7	breast:
3	chr6:45576031..45578499-chr6:45617077..45619180,2	MCF-7	breast:
4	chr6:45575296..45578545-chr6:45595416..45597740,3	MCF-7	breast:
5	chr6:45576668..45578877-chr6:45680174..45683422,3	MCF-7	breast:
6	chr6:45575650..45578473-chr6:45689555..45692241,2	MCF-7	breast:
7	chr6:45387362..45392710-chr6:45572193..45578571,10	MCF-7	breast:
8	chr6:45575229..45578385-chr6:45580116..45583808,5	MCF-7	breast:
9	chr6:45574976..45576984-chr6:45578078..45580337,2	K562	blood:
10	chr6:45554176..45557433-chr6:45573679..45578604,5	MCF-7	breast:
11	chr6:45575640..45578537-chr6:45586483..45588913,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16873528	1.00[EUR][1000 genomes]
rs16873640	1.00[EUR][1000 genomes]
rs16873657	1.00[EUR][1000 genomes]
rs16873716	1.00[EUR][1000 genomes]
rs16873720	1.00[EUR][1000 genomes]
rs56054143	1.00[AMR][1000 genomes]
rs56066829	1.00[EUR][1000 genomes]
rs57853251	1.00[AMR][1000 genomes]
rs58112491	1.00[AMR][1000 genomes]
rs58407953	1.00[AMR][1000 genomes]
rs58844599	1.00[AMR][1000 genomes]
rs60294597	1.00[AMR][1000 genomes]
rs60643594	1.00[AMR][1000 genomes]
rs61524574	1.00[EUR][1000 genomes]
rs73444595	1.00[AMR][1000 genomes]
rs73450785	1.00[EUR][1000 genomes]
rs73735411	1.00[AMR][1000 genomes]
rs73735414	1.00[AMR][1000 genomes]
rs73735422	1.00[AMR][1000 genomes]
rs73735426	1.00[AMR][1000 genomes]
rs73735427	1.00[AMR][1000 genomes]
rs73735428	1.00[AMR][1000 genomes]
rs73735438	1.00[EUR][1000 genomes]
rs73735439	1.00[EUR][1000 genomes]
rs73735440	1.00[EUR][1000 genomes]
rs73735443	1.00[EUR][1000 genomes]
rs73735444	1.00[EUR][1000 genomes]
rs73735445	1.00[EUR][1000 genomes]
rs73735446	1.00[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45563800-45586200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45564200-45579200	Weak transcription	Fetal Kidney	kidney
3	chr6:45574400-45578200	Enhancers	Dnd41	blood
4	chr6:45574400-45579600	Enhancers	Stomach Mucosa	stomach
5	chr6:45574800-45579400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:45575000-45578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:45575200-45578400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:45576200-45579600	Enhancers	Pancreas	Pancrea
9	chr6:45576400-45578800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:45576400-45581000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:45576600-45578200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:45576600-45581400	Weak transcription	Small Intestine	intestine
13	chr6:45576800-45581200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:45576800-45585000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:45577000-45578400	Enhancers	Gastric	stomach
16	chr6:45577000-45578400	Enhancers	Hela-S3	cervix
17	chr6:45577000-45581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:45577000-45581200	Weak transcription	Osteobl	bone
19	chr6:45577200-45578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:45577400-45579600	Enhancers	Fetal Intestine Small	intestine
21	chr6:45577400-45581000	Weak transcription	NHEK	skin
22	chr6:45577400-45581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:45577400-45581400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:45577600-45580000	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:45577600-45581000	Weak transcription	HMEC	breast
26	chr6:45577800-45579000	Weak transcription	Esophagus	oesophagus
27	chr6:45577800-45581000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:45577800-45581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:45577800-45581200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:45577800-45581200	Weak transcription	NHDF-Ad	bronchial
31	chr6:45577800-45581400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:45577800-45581400	Weak transcription	HSMM	muscle
33	chr6:45578000-45581200	Weak transcription	NHLF	lung
34	chr6:45578000-45585200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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