Variant report

Variant	rs4680304
Chromosome Location	chr3:156531273-156531274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:156530126-156531387	MCF-7	breast:	n/a	n/a
2	JUN	chr3:156530105-156531439	K562	blood:	n/a	chr3:156530498-156530511

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156391553..156394223-chr3:156530300..156532629,2	K562	blood:
2	chr3:156530292..156533416-chr3:156536221..156538650,3	MCF-7	breast:
3	chr3:156473925..156475746-chr3:156530904..156533375,2	MCF-7	breast:
4	chr3:156522791..156525819-chr3:156530782..156532939,3	MCF-7	breast:
5	chr3:156270408..156273288-chr3:156530835..156533779,2	MCF-7	breast:
6	chr3:156388866..156397270-chr3:156524172..156537549,71	MCF-7	breast:
7	chr3:156402796..156405445-chr3:156530779..156533531,2	MCF-7	breast:
8	chr3:156526016..156527840-chr3:156529413..156531973,3	MCF-7	breast:
9	chr3:156530884..156532609-chr3:156891985..156894851,2	MCF-7	breast:
10	chr3:156519269..156521582-chr3:156529523..156531726,2	K562	blood:
11	chr3:156529794..156532107-chr3:156865235..156867004,2	K562	blood:
12	chr3:156530216..156532271-chr3:156875722..156877801,2	MCF-7	breast:
13	chr3:156527592..156531932-chr3:156540848..156546879,8	MCF-7	breast:
14	chr3:156407951..156412215-chr3:156529722..156531947,3	MCF-7	breast:
15	chr3:156530706..156532325-chr3:156799131..156800812,2	MCF-7	breast:
16	chr3:156517343..156519280-chr3:156530527..156533564,3	MCF-7	breast:
17	chr3:156389670..156395497-chr3:156530360..156537244,22	MCF-7	breast:

No data

Variant related genes	Relation type
PA2G4P4	TF binding region
ENSG00000197980	Chromatin interaction
ENSG00000241544	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11710516	0.89[ASN][1000 genomes]
rs11717138	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430412	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16826864	0.84[ASN][1000 genomes]
rs171077	0.89[ASN][1000 genomes]
rs171080	0.84[ASN][1000 genomes]
rs180746	0.89[ASN][1000 genomes]
rs182936	0.89[ASN][1000 genomes]
rs2163296	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs237246	0.89[ASN][1000 genomes]
rs28661978	0.84[ASN][1000 genomes]
rs343992	0.95[ASN][1000 genomes]
rs344023	0.89[ASN][1000 genomes]
rs344030	0.86[AMR][1000 genomes]
rs344032	0.84[ASN][1000 genomes]
rs344047	0.89[ASN][1000 genomes]
rs344048	0.89[ASN][1000 genomes]
rs344049	0.89[ASN][1000 genomes]
rs344050	0.89[ASN][1000 genomes]
rs344076	0.84[ASN][1000 genomes]
rs344077	0.84[ASN][1000 genomes]
rs344078	0.84[ASN][1000 genomes]
rs344081	0.84[ASN][1000 genomes]
rs344083	0.84[ASN][1000 genomes]
rs344085	0.84[ASN][1000 genomes]
rs344086	0.84[ASN][1000 genomes]
rs344088	0.84[ASN][1000 genomes]
rs344090	0.84[ASN][1000 genomes]
rs344091	0.84[ASN][1000 genomes]
rs3796172	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59244547	0.84[ASN][1000 genomes]
rs7618306	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634472	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9847692	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv877686	chr3:156489509-156557697	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156527200-156533200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:156527400-156531600	Enhancers	Fetal Intestine Small	intestine
3	chr3:156527400-156533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:156527800-156533000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:156527800-156533800	Enhancers	HMEC	breast
6	chr3:156528200-156533600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:156528400-156532800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:156528800-156531600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:156528800-156531600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:156529000-156531400	Enhancers	Liver	Liver
11	chr3:156529000-156531400	Enhancers	K562	blood
12	chr3:156529000-156531400	Enhancers	NH-A	brain
13	chr3:156529000-156531600	Enhancers	Primary T cells from cord blood	blood
14	chr3:156529200-156533600	Weak transcription	Primary B cells from cord blood	blood
15	chr3:156529400-156531400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr3:156529400-156533400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:156529600-156531400	Flanking Active TSS	NHEK	skin
18	chr3:156529600-156532400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:156529600-156533600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:156529800-156531600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr3:156529800-156531600	Flanking Active TSS	A549	lung
22	chr3:156529800-156533600	Weak transcription	Fetal Heart	heart
23	chr3:156530200-156531800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:156530400-156531400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:156530400-156531400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:156530400-156531600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:156530600-156531600	Flanking Active TSS	GM12878-XiMat	blood
28	chr3:156530600-156531800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:156530600-156533400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:156530600-156533600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:156530600-156533800	Weak transcription	Lung	lung
32	chr3:156530800-156533800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:156530800-156533800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:156530800-156533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:156530800-156533800	Weak transcription	Left Ventricle	heart
36	chr3:156531000-156532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:156531000-156533200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:156531000-156533400	Weak transcription	NHLF	lung
39	chr3:156531000-156533600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:156531000-156533600	Weak transcription	HSMMtube	muscle
41	chr3:156531000-156533800	Weak transcription	Right Ventricle	heart
42	chr3:156531000-156533800	Weak transcription	Small Intestine	intestine
43	chr3:156531200-156532400	Enhancers	Hela-S3	cervix
44	chr3:156531200-156532800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:156531200-156533000	Weak transcription	Fetal Intestine Large	intestine
46	chr3:156531200-156533200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:156531200-156533400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:156531200-156533400	Weak transcription	HepG2	liver
49	chr3:156531200-156533400	Weak transcription	HUVEC	blood vessel
50	chr3:156531200-156533400	Weak transcription	NHDF-Ad	bronchial

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