Variant report

Variant	rs73040478
Chromosome Location	chr3:24640440-24640441
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	chr3:24639170..24642285-chr3:24644377..24647650,4	K562	blood:
2	chr3:24633657..24635628-chr3:24639189..24641484,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10490837	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11715809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014900	0.86[EUR][1000 genomes]
rs17014902	0.86[EUR][1000 genomes]
rs2043579	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562279	0.90[EUR][1000 genomes]
rs55720954	1.00[AFR][1000 genomes]
rs56135387	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56268655	0.87[EUR][1000 genomes]
rs56281969	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036489	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73036499	0.94[AFR][1000 genomes]
rs73036501	0.94[AFR][1000 genomes]
rs73038411	0.87[EUR][1000 genomes]
rs73038427	0.87[EUR][1000 genomes]
rs73040431	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040438	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73040440	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040483	0.81[AFR][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	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv999384	chr3:24525345-24656873	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr3:24630800-24640800	Weak transcription	Small Intestine	intestine
2	chr3:24635600-24641400	Enhancers	HMEC	breast
3	chr3:24637000-24641000	Enhancers	NHEK	skin
4	chr3:24639400-24640600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:24639400-24641400	Enhancers	Hela-S3	cervix
6	chr3:24639800-24640800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:24639800-24641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:24639800-24641400	Enhancers	Stomach Mucosa	stomach
9	chr3:24639800-24642000	Enhancers	Fetal Intestine Large	intestine
10	chr3:24639800-24642000	Enhancers	Fetal Intestine Small	intestine
11	chr3:24640000-24640600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:24640000-24640600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:24640000-24640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:24640000-24640800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:24640000-24640800	Enhancers	A549	lung
16	chr3:24640000-24641000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:24640000-24641200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:24640000-24641200	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:24640000-24641200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:24640000-24642600	Enhancers	Fetal Lung	lung
21	chr3:24640200-24640600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr3:24640200-24640600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:24640200-24640600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:24640200-24640800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:24640200-24640800	Weak transcription	Liver	Liver
26	chr3:24640200-24644200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:24640400-24640800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:24640400-24641000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:24640400-24641000	Enhancers	HUVEC	blood vessel
30	chr3:24640400-24643600	Weak transcription	NHDF-Ad	bronchial
31	chr3:24640400-24645400	Weak transcription	HepG2	liver

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