Variant report

Variant	rs9448753
Chromosome Location	chr6:80339503-80339504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80315668..80318474-chr6:80337114..80339782,2	MCF-7	breast:
2	chr6:80335632..80339568-chr6:80345639..80348961,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6454129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294154	1.00[AMR][1000 genomes]
rs9448752	1.00[AMR][1000 genomes]
rs9448757	1.00[AMR][1000 genomes]
rs9448758	1.00[AMR][1000 genomes]
rs9448759	1.00[AMR][1000 genomes]
rs9448762	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80318000-80340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:80322600-80340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:80322800-80340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:80333400-80340200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:80333400-80340400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:80334400-80340000	Weak transcription	Brain Anterior Caudate	brain
8	chr6:80336800-80340200	Weak transcription	K562	blood
9	chr6:80337000-80340200	Weak transcription	Fetal Lung	lung
10	chr6:80338000-80340000	Enhancers	Liver	Liver
11	chr6:80338000-80340200	Enhancers	HepG2	liver
12	chr6:80338000-80340400	Weak transcription	Colonic Mucosa	Colon
13	chr6:80338200-80339800	Enhancers	Stomach Mucosa	stomach
14	chr6:80338800-80339600	Enhancers	Placenta	Placenta
15	chr6:80338800-80340200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:80339000-80341000	Weak transcription	Small Intestine	intestine
17	chr6:80339200-80340200	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:80339200-80340600	Weak transcription	Gastric	stomach
19	chr6:80339200-80340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:80339400-80340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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