Variant report

Variant	rs55740131
Chromosome Location	chr7:80492667-80492668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80490277..80491783-chr7:80492359..80494389,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11772505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154592	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56749577	0.95[AFR][1000 genomes]
rs58168478	0.92[AFR][1000 genomes]
rs58594345	0.90[AFR][1000 genomes]
rs59069438	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333816	0.96[EUR][1000 genomes]
rs60470401	0.90[AFR][1000 genomes]
rs60547338	0.95[AFR][1000 genomes]
rs73376611	0.96[EUR][1000 genomes]
rs73376616	1.00[ASN][1000 genomes]
rs73376617	1.00[ASN][1000 genomes]
rs73376678	1.00[ASN][1000 genomes]
rs73709351	0.82[AFR][1000 genomes]
rs73709356	0.87[AFR][1000 genomes]
rs73709359	0.85[AFR][1000 genomes]
rs73709360	0.90[AFR][1000 genomes]
rs73709361	0.90[AFR][1000 genomes]
rs73709362	0.90[AFR][1000 genomes]
rs73709364	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779457	0.95[AFR][1000 genomes]
rs7781226	0.95[AFR][1000 genomes]
rs9641941	0.96[EUR][1000 genomes]
rs9641942	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr7:80460400-80514600	Weak transcription	Left Ventricle	heart
2	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
3	chr7:80472600-80498400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:80474400-80499400	Weak transcription	Psoas Muscle	Psoas
5	chr7:80480800-80494000	Weak transcription	Aorta	Aorta
6	chr7:80484800-80506200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:80486400-80502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:80487800-80498000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:80489000-80498200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:80489200-80496800	Weak transcription	Fetal Brain Male	brain
11	chr7:80489200-80498000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:80489200-80498400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:80489200-80502200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:80489400-80496000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80489400-80498400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:80489400-80498400	Weak transcription	NH-A	brain
17	chr7:80490000-80495800	Weak transcription	Fetal Intestine Large	intestine
18	chr7:80490200-80498800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:80490200-80498800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:80490200-80498800	Weak transcription	HMEC	breast
21	chr7:80490200-80499200	Weak transcription	NHEK	skin
22	chr7:80490200-80502400	Weak transcription	NHDF-Ad	bronchial
23	chr7:80490400-80502400	Weak transcription	NHLF	lung
24	chr7:80491000-80493000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr7:80491400-80497000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:80491600-80493400	Weak transcription	A549	lung
27	chr7:80491600-80498800	Weak transcription	HSMM	muscle
28	chr7:80492000-80493200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:80492200-80495200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:80492200-80495400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:80492600-80492800	Strong transcription	Fetal Muscle Leg	muscle

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