Variant report

Variant	rs73376617
Chromosome Location	chr7:80551571-80551572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:80551533-80552033	MCF-7	breast:	n/a	chr7:80551569-80551578
2	FOXA1	chr7:80551451-80551949	T-47D	breast:	n/a	n/a
3	CEBPB	chr7:80551522-80552384	ECC-1	luminal epithelium:	n/a	chr7:80551677-80551689 chr7:80552175-80552186 chr7:80552177-80552186
4	ZNF217	chr7:80551562-80551888	MCF-7	breast:	n/a	n/a
5	HDAC2	chr7:80551503-80552030	MCF-7	breast:	n/a	chr7:80551596-80551610
6	SIN3AK20	chr7:80551390-80552159	MCF-7	breast:	n/a	n/a
7	GATA3	chr7:80551518-80551957	T-47D	breast:	n/a	n/a
8	PML	chr7:80551413-80551941	MCF-7	breast:	n/a	n/a
9	FOXA1	chr7:80551516-80551825	T-47D	breast:	n/a	n/a
10	POLR2A	chr7:80542371-80551951	MCF-7	breast:	n/a	n/a
11	GATA3	chr7:80551539-80551948	T-47D	breast:	n/a	n/a
12	FOXM1	chr7:80551465-80551981	MCF-7	breast:	n/a	n/a
13	GATA3	chr7:80551174-80552053	MCF-7	breast:	n/a	n/a
14	GATA3	chr7:80551433-80552064	MCF-7	breast:	n/a	n/a
15	HDAC2	chr7:80551472-80552031	MCF-7	breast:	n/a	chr7:80551596-80551610
16	ELF1	chr7:80551428-80552058	MCF-7	breast:	n/a	chr7:80551837-80551848 chr7:80551569-80551580
17	CEBPB	chr7:80551516-80552288	MCF-7	breast:	n/a	chr7:80551677-80551689 chr7:80552175-80552186 chr7:80552177-80552186
18	CEBPB	chr7:80551482-80552608	MCF-7	breast:	n/a	chr7:80551677-80551689 chr7:80552175-80552186 chr7:80552177-80552186
19	POLR2A	chr7:80551366-80551886	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:80548724..80552228-chr7:81092186..81095551,3	MCF-7	breast:
2	chr7:80550795..80553784-chr7:81092068..81094746,3	MCF-7	breast:
3	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:
4	chr10:134209437..134211118-chr7:80550680..80552193,2	MCF-7	breast:

Variant related genes	Relation type
SEMA3C	TF binding region
ENSG00000237896	Chromatin interaction
ENSG00000171813	Chromatin interaction
ENSG00000232968	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11772505	1.00[ASN][1000 genomes]
rs17154592	1.00[ASN][1000 genomes]
rs55740131	1.00[ASN][1000 genomes]
rs56690867	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57969109	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58270141	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59042660	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59069438	1.00[ASN][1000 genomes]
rs60545437	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60732521	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73376622	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376623	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376625	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376627	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376629	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376632	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376637	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376639	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376641	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376642	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376644	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376659	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376661	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376664	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376667	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376669	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376670	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376673	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73376678	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709364	1.00[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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr7:80548400-80552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:80548400-80570000	Weak transcription	Gastric	stomach
3	chr7:80548800-80552600	Weak transcription	Fetal Heart	heart
4	chr7:80549200-80552400	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:80549400-80552400	Weak transcription	Fetal Kidney	kidney
7	chr7:80549400-80552600	Weak transcription	Psoas Muscle	Psoas
8	chr7:80549400-80553600	Weak transcription	Colonic Mucosa	Colon
9	chr7:80549400-80554400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:80549600-80551800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:80549600-80552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:80549600-80553600	Enhancers	Fetal Intestine Large	intestine
13	chr7:80549600-80553800	Enhancers	Fetal Intestine Small	intestine
14	chr7:80549600-80554000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:80549800-80551600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:80549800-80552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:80549800-80553800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:80550000-80551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:80550200-80553800	Enhancers	Stomach Mucosa	stomach
20	chr7:80550600-80551600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:80550800-80552000	Weak transcription	Fetal Lung	lung
22	chr7:80551000-80552200	Weak transcription	Small Intestine	intestine
23	chr7:80551000-80552600	Weak transcription	HMEC	breast
24	chr7:80551000-80552800	Enhancers	NHEK	skin
25	chr7:80551000-80553400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:80551000-80556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:80551200-80551600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:80551200-80551800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr7:80551200-80554400	Enhancers	A549	lung
30	chr7:80551400-80552800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:80551400-80553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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