Variant report

Variant	rs72759615
Chromosome Location	chr1:214677827-214677828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214677645..214681280-chr1:214723322..214726744,5	MCF-7	breast:
2	chr1:214677154..214678655-chr1:214700789..214703552,2	MCF-7	breast:
3	chr1:214673174..214674823-chr1:214674925..214678786,3	K562	blood:

Variant related genes	Relation type
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11801700	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12125850	0.83[ASN][1000 genomes]
rs12565465	0.86[ASN][1000 genomes]
rs12753039	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17023117	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17023132	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28565340	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4129059	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326598	0.83[ASN][1000 genomes]
rs4465173	0.83[ASN][1000 genomes]
rs56253402	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57047137	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57190864	0.83[EUR][1000 genomes]
rs57535424	0.84[EUR][1000 genomes]
rs58247568	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61443257	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680964	0.94[ASN][1000 genomes]
rs6683647	0.95[ASN][1000 genomes]
rs6687162	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67349118	0.84[EUR][1000 genomes]
rs72759620	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72759626	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7533482	0.93[ASN][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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
2	chr1:214668400-214678600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:214668400-214680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:214669800-214700400	Weak transcription	Aorta	Aorta
5	chr1:214670000-214680000	Weak transcription	NH-A	brain
6	chr1:214671800-214686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:214674000-214678600	Weak transcription	Placenta	Placenta
8	chr1:214674200-214685200	Weak transcription	HUVEC	blood vessel
9	chr1:214674200-214687200	Weak transcription	HSMMtube	muscle
10	chr1:214674400-214678200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:214674400-214678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:214674400-214679400	Weak transcription	HMEC	breast
13	chr1:214674400-214680000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:214674400-214685000	Weak transcription	Fetal Stomach	stomach
15	chr1:214674600-214678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:214674600-214678400	Weak transcription	Ovary	ovary
17	chr1:214674600-214678600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:214674600-214678800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:214674600-214680000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:214674600-214680200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:214674600-214686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:214675000-214678000	Weak transcription	NHLF	lung
23	chr1:214675000-214680000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:214675200-214680000	Weak transcription	NHDF-Ad	bronchial
25	chr1:214676000-214679800	Genic enhancers	NHEK	skin
26	chr1:214676400-214680000	Enhancers	A549	lung
27	chr1:214676600-214681000	Enhancers	Stomach Mucosa	stomach
28	chr1:214676800-214678000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:214676800-214678000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:214676800-214681400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:214677000-214678000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:214677000-214680000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:214677000-214680000	Enhancers	HepG2	liver
34	chr1:214677000-214681600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:214677200-214679000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:214677200-214679000	Enhancers	Psoas Muscle	Psoas
37	chr1:214677200-214679600	Strong transcription	HSMM	muscle
38	chr1:214677200-214690200	Weak transcription	Small Intestine	intestine
39	chr1:214677400-214678200	Enhancers	Gastric	stomach
40	chr1:214677400-214679000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:214677400-214679200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:214677400-214679400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:214677400-214679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:214677400-214679600	Strong transcription	Osteobl	bone
45	chr1:214677400-214680200	Weak transcription	Hela-S3	cervix
46	chr1:214677600-214678200	Enhancers	Left Ventricle	heart
47	chr1:214677600-214678200	Enhancers	Lung	lung
48	chr1:214677600-214678800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:214677600-214679000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:214677600-214679000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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