Variant report

Variant	rs72640550
Chromosome Location	chr8:49777971-49777972
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	chr8:49776905..49778799-chr8:49782300..49784837,2	K562	blood:
2	chr8:49777643..49779526-chr8:49780548..49782346,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1561657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16939027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72640561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640569	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7464556	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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv528067	chr8:49769454-49779947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49773200-49779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:49775200-49778400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:49776000-49779200	Enhancers	HMEC	breast
4	chr8:49776400-49778000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr8:49776400-49778600	Enhancers	NHEK	skin
6	chr8:49776400-49779000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:49776600-49778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:49776600-49778400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:49776600-49778600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:49776800-49778600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:49776800-49780600	Weak transcription	Fetal Stomach	stomach
12	chr8:49776800-49782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:49776800-49782400	Weak transcription	Fetal Brain Female	brain
14	chr8:49777000-49778400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:49777200-49779000	Enhancers	Fetal Brain Male	brain
16	chr8:49777200-49779200	Enhancers	Fetal Lung	lung
17	chr8:49777400-49778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:49777400-49778000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:49777400-49778400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:49777600-49778200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:49777600-49778200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:49777600-49778200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:49777600-49778800	Weak transcription	Esophagus	oesophagus
24	chr8:49777600-49780200	Weak transcription	Ovary	ovary
25	chr8:49777800-49779000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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