Variant report

Variant	rs72874755
Chromosome Location	chr3:61616330-61616331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61614514..61617033-chr3:61662536..61664540,2	MCF-7	breast:
2	chr3:61609621..61617311-chr3:61628614..61634388,16	MCF-7	breast:
3	chr17:56670604..56674197-chr3:61615736..61620320,4	MCF-7	breast:
4	chr17:56649570..56655387-chr3:61609668..61616460,11	MCF-7	breast:
5	chr17:56734668..56738970-chr3:61603973..61616839,24	MCF-7	breast:
6	chr17:56703125..56711935-chr3:61611656..61626888,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121101	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000266826	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs4390920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56696131	1.00[AMR][1000 genomes]
rs56917130	0.92[AFR][1000 genomes]
rs57484041	0.93[AFR][1000 genomes]
rs57490914	0.92[AFR][1000 genomes]
rs57929835	0.93[AFR][1000 genomes]
rs57943064	1.00[AMR][1000 genomes]
rs57953857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58325144	0.95[AFR][1000 genomes]
rs58814661	1.00[AMR][1000 genomes]
rs59639668	0.87[AFR][1000 genomes]
rs59716534	0.95[AFR][1000 genomes]
rs60197600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60197976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60473152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6801604	1.00[AMR][1000 genomes]
rs6805288	1.00[AMR][1000 genomes]
rs72874738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72874749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888670	1.00[AMR][1000 genomes]
rs72888675	1.00[AMR][1000 genomes]
rs72888676	1.00[AMR][1000 genomes]
rs72888678	1.00[AMR][1000 genomes]
rs72890425	0.93[AFR][1000 genomes]
rs7637818	0.90[AFR][1000 genomes]
rs7640772	1.00[AMR][1000 genomes]
rs9878929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008615	chr3:61455419-61679037	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2756995	chr3:61569557-61636156	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv2759153	chr3:61569557-61636156	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv35004	chr3:61570149-61626426	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv822106	chr3:61577755-61631078	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv1001611	chr3:61598148-61686809	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1000158	chr3:61598562-61682888	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1800730	chr3:61599495-61620573	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv834712	chr3:61612540-61770232	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61592800-61619800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:61598800-61623200	Weak transcription	Aorta	Aorta
3	chr3:61603000-61620000	Weak transcription	Left Ventricle	heart
4	chr3:61603200-61623400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:61603400-61620400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:61603400-61622600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:61603600-61622800	Weak transcription	Ovary	ovary
8	chr3:61611400-61616400	Enhancers	HepG2	liver
9	chr3:61612000-61625600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:61612200-61618600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:61612400-61618600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:61612600-61622200	Weak transcription	Right Atrium	heart
13	chr3:61612600-61623000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:61612600-61623200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:61613000-61616800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:61613200-61616400	Enhancers	HMEC	breast
17	chr3:61613600-61622600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:61613800-61617200	Weak transcription	Small Intestine	intestine
19	chr3:61613800-61618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:61613800-61620000	Weak transcription	Fetal Heart	heart
21	chr3:61613800-61622400	Weak transcription	Fetal Intestine Large	intestine
22	chr3:61613800-61623200	Weak transcription	HUVEC	blood vessel
23	chr3:61613800-61625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:61614200-61616800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:61614200-61616800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:61615200-61616400	Enhancers	NHEK	skin
27	chr3:61615200-61616800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:61615400-61616400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:61615600-61616600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:61615800-61618200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:61615800-61618400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:61615800-61618400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:61615800-61618600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:61615800-61619800	Weak transcription	Psoas Muscle	Psoas
35	chr3:61615800-61622600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:61615800-61625800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:61616000-61616400	Enhancers	NHLF	lung
38	chr3:61616000-61617600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:61616000-61618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:61616000-61620200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:61616000-61633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:61616200-61616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:61616200-61617000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:61616200-61617200	Enhancers	NHDF-Ad	bronchial
45	chr3:61616200-61618200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:61616200-61618400	Weak transcription	HSMM	muscle
47	chr3:61616200-61618600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:61616200-61618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:61616200-61620400	Weak transcription	Osteobl	bone
50	chr3:61616200-61623000	Weak transcription	NH-A	brain

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