Variant report

Variant	rs67206940
Chromosome Location	chr1:59061796-59061797
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59041908..59044362-chr1:59059779..59062125,2	MCF-7	breast:
2	chr1:59059553..59061890-chr1:59075340..59077312,2	MCF-7	breast:
3	chr1:59055381..59057219-chr1:59060297..59061966,2	MCF-7	breast:
4	chr1:59049755..59053628-chr1:59060314..59062387,4	MCF-7	breast:
5	chr1:59060827..59062882-chr1:59091146..59093686,2	K562	blood:

Variant related genes	Relation type
ENSG00000184292	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11582691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12741058	0.82[EUR][1000 genomes]
rs12742998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756352	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs151311	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35384056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887697	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3912899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912350	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4912351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71511492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59051200-59063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:59058000-59062200	Weak transcription	Esophagus	oesophagus
3	chr1:59058600-59062800	Weak transcription	Right Ventricle	heart
4	chr1:59058800-59062000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:59058800-59062200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:59058800-59062200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:59058800-59062400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:59058800-59062400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:59058800-59062600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:59058800-59062600	Weak transcription	Right Atrium	heart
11	chr1:59058800-59062800	Weak transcription	Aorta	Aorta
12	chr1:59058800-59063200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:59059000-59062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:59059200-59062000	Weak transcription	HSMM	muscle
15	chr1:59059200-59062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:59059200-59062600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:59059200-59062600	Weak transcription	Osteobl	bone
18	chr1:59059200-59062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:59059400-59062400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:59059400-59062400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:59059400-59062400	Weak transcription	Ovary	ovary
22	chr1:59059400-59062400	Weak transcription	HMEC	breast
23	chr1:59059600-59062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:59059600-59062200	Weak transcription	HSMMtube	muscle
25	chr1:59059600-59066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:59060400-59062800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:59060600-59063600	Enhancers	NHDF-Ad	bronchial
28	chr1:59060600-59082200	Weak transcription	HUVEC	blood vessel
29	chr1:59060800-59062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:59060800-59062800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:59061000-59062000	Weak transcription	NHEK	skin
32	chr1:59061200-59074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:59061600-59062600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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