Variant report

Variant	rs4550960
Chromosome Location	chr4:80571936-80571937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:80562829..80565369-chr4:80570389..80573368,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10008633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008832	1.00[ASN][1000 genomes]
rs10518222	0.98[ASN][1000 genomes]
rs10518223	0.98[ASN][1000 genomes]
rs11098797	0.99[ASN][1000 genomes]
rs11937400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004035	0.98[ASN][1000 genomes]
rs28593035	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55956278	0.99[ASN][1000 genomes]
rs62297625	1.00[ASN][1000 genomes]
rs72649341	0.99[ASN][1000 genomes]
rs7696440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80567000-80572000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:80567000-80572200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:80567400-80572000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:80567800-80572200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:80568400-80572600	Weak transcription	Fetal Brain Male	brain
6	chr4:80568400-80572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:80570800-80572000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:80571200-80572200	Enhancers	HUVEC	blood vessel
9	chr4:80571400-80572200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:80571400-80573000	Enhancers	NHDF-Ad	bronchial
11	chr4:80571600-80572000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:80571600-80572000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:80571600-80572000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:80571600-80572000	Enhancers	NHEK	skin
15	chr4:80571600-80572000	Enhancers	Osteobl	bone
16	chr4:80571600-80572200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:80571600-80572200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:80571600-80572200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:80571600-80572400	Enhancers	Colon Smooth Muscle	Colon
20	chr4:80571600-80574000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:80571600-80574800	Enhancers	NH-A	brain
22	chr4:80571800-80572000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:80571800-80572000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:80571800-80572000	Weak transcription	Fetal Lung	lung
25	chr4:80571800-80573200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:80571800-80573600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:80571800-80573600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:80571800-80575400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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