Variant report

Variant	rs2445764
Chromosome Location	chr15:51633517-51633518
allele	A/G
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	ZNF263	chr15:51633434-51634270	HEK293-T-REx	kidney:	n/a	chr15:51633588-51633609
2	E2F6	chr15:51633514-51634680	H1-hESC	embryonic stem cell:	n/a	chr15:51633981-51633996
3	POLR2A	chr15:51633341-51634516	MCF-7	breast:	n/a	n/a
4	GATA2	chr15:51633053-51634214	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr15:51632850-51634260	MCF-7	breast:	n/a	n/a
6	MYC	chr15:51633350-51634421	MCF-7	breast:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
7	E2F6	chr15:51633419-51634831	H1-hESC	embryonic stem cell:	n/a	chr15:51633981-51633996
8	MAX	chr15:51633303-51634618	H1-hESC	embryonic stem cell:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
9	HDAC2	chr15:51633297-51634719	MCF-7	breast:	n/a	n/a
10	NR2F2	chr15:51633184-51634524	MCF-7	breast:	n/a	n/a
11	HA-E2F1	chr15:51633139-51634630	MCF-7	breast:	n/a	n/a
12	MAX	chr15:51633115-51634476	MCF-7	breast:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
13	MAX	chr15:51633109-51634777	MCF-7	breast:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
14	MAX	chr15:51633510-51634709	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51631962..51635284-chr15:51658030..51661576,5	MCF-7	breast:
2	chr15:51629923..51631751-chr15:51631879..51634512,2	MCF-7	breast:
3	chr15:51633014..51633734-chr15:51672778..51673632,2	MCF-7	breast:
4	chr15:51632518..51637077-chr15:51639957..51644018,8	MCF-7	breast:

Variant related genes	Relation type
CYP19A1	TF binding region
GLDN	TF binding region
ENSG00000137869	Chromatin interaction
ENSG00000259194	Chromatin interaction
ENSG00000270378	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12592133	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17602385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870050	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2445763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445771	0.89[EUR][1000 genomes]
rs2446404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2446409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446422	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2446425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470149	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868475	0.91[EUR][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	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv904216	chr15:51631479-51739808	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr15:51628800-51633600	Weak transcription	Aorta	Aorta
2	chr15:51628800-51633600	Weak transcription	Right Atrium	heart
3	chr15:51630800-51633600	Enhancers	Placenta	Placenta
4	chr15:51632200-51633600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:51632800-51633800	Enhancers	Spleen	Spleen
6	chr15:51633000-51633800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr15:51633200-51633600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:51633200-51633600	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr15:51633200-51633600	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr15:51633200-51633600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr15:51633200-51633600	Enhancers	Left Ventricle	heart
12	chr15:51633200-51633600	Enhancers	Psoas Muscle	Psoas
13	chr15:51633200-51633600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr15:51633200-51634000	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr15:51633200-51634200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr15:51633400-51633600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:51633400-51633600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:51633400-51633600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr15:51633400-51633600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr15:51633400-51633600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:51633400-51633600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:51633400-51633600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:51633400-51633600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:51633400-51633600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:51633400-51633600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:51633400-51633600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr15:51633400-51633600	Active TSS	Brain Anterior Caudate	brain
28	chr15:51633400-51633600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:51633400-51633600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr15:51633400-51633600	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr15:51633400-51633600	Enhancers	Pancreas	Pancrea
32	chr15:51633400-51633600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr15:51633400-51633600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr15:51633400-51633600	Bivalent Enhancer	HMEC	breast
35	chr15:51633400-51633600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr15:51633400-51633600	Bivalent Enhancer	NHDF-Ad	bronchial
37	chr15:51633400-51633800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:51633400-51633800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:51633400-51633800	Bivalent Enhancer	Esophagus	oesophagus
40	chr15:51633400-51633800	Enhancers	Gastric	stomach
41	chr15:51633400-51634200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr15:51633400-51634200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr15:51633400-51634200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr15:51633400-51634200	Flanking Active TSS	Right Ventricle	heart
45	chr15:51633400-51634400	Bivalent Enhancer	Liver	Liver
46	chr15:51633400-51634400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr15:51633400-51634400	Bivalent/Poised TSS	HSMMtube	muscle
48	chr15:51633400-51634800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:51633400-51635000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr15:51633400-51635000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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