Variant report

Variant	rs60653179
Chromosome Location	chr6:45621951-45621952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45615231..45620456-chr6:45620774..45624802,6	MCF-7	breast:
2	chr6:45620998..45623947-chr6:45624058..45626263,2	K562	blood:
3	chr6:45389165..45392210-chr6:45621811..45625140,4	MCF-7	breast:
4	chr6:45611643..45613817-chr6:45619919..45622769,2	K562	blood:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1889595	0.88[EUR][1000 genomes]
rs56125920	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56383386	0.87[EUR][1000 genomes]
rs57847751	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58033063	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515711	0.89[ASN][1000 genomes]
rs58899441	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59086975	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60021834	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60499694	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61046945	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61433014	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735894	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906753	0.84[EUR][1000 genomes]
rs6932213	0.88[EUR][1000 genomes]
rs73444596	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73446524	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73446528	0.84[AFR][1000 genomes]
rs73735415	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73735416	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73738524	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7755911	0.88[EUR][1000 genomes]
rs976319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45612400-45623600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:45615600-45626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:45617400-45627400	Enhancers	NHDF-Ad	bronchial
4	chr6:45617800-45624200	Enhancers	NHEK	skin
5	chr6:45617800-45627200	Enhancers	NHLF	lung
6	chr6:45618200-45627200	Weak transcription	Gastric	stomach
7	chr6:45618800-45623800	Enhancers	Osteobl	bone
8	chr6:45618800-45627200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:45619000-45623200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:45619000-45623800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:45619000-45624400	Enhancers	HUVEC	blood vessel
12	chr6:45619400-45622200	Weak transcription	A549	lung
13	chr6:45619400-45623800	Enhancers	NH-A	brain
14	chr6:45619600-45622200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:45619800-45622200	Weak transcription	HSMMtube	muscle
16	chr6:45620400-45626600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:45620600-45622400	Genic enhancers	HSMM	muscle
18	chr6:45620600-45624000	Enhancers	HMEC	breast
19	chr6:45620800-45625800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:45620800-45626400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:45621000-45622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:45621000-45623800	Enhancers	Hela-S3	cervix
23	chr6:45621000-45625800	Weak transcription	Fetal Brain Male	brain
24	chr6:45621000-45626000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:45621400-45622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:45621400-45623800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:45621400-45625400	Weak transcription	Dnd41	blood
28	chr6:45621400-45626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:45621600-45622000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:45621600-45624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:45621800-45622200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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