Variant report

Variant	rs1258764
Chromosome Location	chr15:33131239-33131240
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	USF1	chr15:33131029-33131424	A549	lung:	n/a	n/a
2	POLR2A	chr15:33131038-33131305	SK-N-SH	brain:	n/a	n/a
3	REST	chr15:33130954-33131454	PFSK-1	brain:	n/a	chr15:33131157-33131177 chr15:33131157-33131170
4	JUND	chr15:33130998-33131333	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:33130834-33134325	U87	brain:	n/a	n/a
6	SIN3AK20	chr15:33130998-33131577	MCF-7	breast:	n/a	n/a
7	MAFK	chr15:33131010-33131318	HepG2	liver:	n/a	n/a
8	FOXP2	chr15:33130979-33131385	PFSK-1	brain:	n/a	n/a
9	NR3C1	chr15:33130959-33131670	A549	lung:	n/a	chr15:33131466-33131481 chr15:33131467-33131481
10	FOS	chr15:33130958-33131399	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr15:33131017-33131338	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr15:33131215-33131290	HUVEC	blood vessel:	n/a	n/a
13	FOSL2	chr15:33130986-33131323	A549	lung:	n/a	n/a
14	FOXA1	chr15:33130880-33131506	HepG2	liver:	n/a	n/a
15	USF1	chr15:33131040-33131485	A549	lung:	n/a	n/a
16	MAFK	chr15:33131015-33131345	HepG2	liver:	n/a	n/a
17	FOXA1	chr15:33131013-33131367	T-47D	breast:	n/a	n/a
18	NR3C1	chr15:33130993-33131500	A549	lung:	n/a	chr15:33131466-33131481 chr15:33131467-33131481
19	POLR2A	chr15:33130996-33131400	SK-N-SH	brain:	n/a	n/a
20	FOS	chr15:33131004-33131344	MCF10A-Er-Src	breast:	n/a	n/a
21	SP1	chr15:33130818-33131468	A549	lung:	n/a	n/a
22	POLR2A	chr15:33130274-33134725	U87	brain:	n/a	n/a
23	FOXA1	chr15:33130901-33131337	HepG2	liver:	n/a	n/a
24	EP300	chr15:33130754-33131572	A549	lung:	n/a	chr15:33130905-33130914
25	FOXA2	chr15:33130804-33131880	A549	lung:	n/a	n/a
26	RAD21	chr15:33130703-33131479	IMR90	lung:	n/a	chr15:33131368-33131382
27	TCF12	chr15:33130724-33131690	A549	lung:	n/a	chr15:33131202-33131211
28	USF1	chr15:33131139-33131346	SK-N-SH_RA	brain:	n/a	n/a
29	ZNF263	chr15:33130997-33131602	HEK293-T-REx	kidney:	n/a	chr15:33131289-33131310 chr15:33131266-33131275
30	FOXA2	chr15:33130971-33131315	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr15:33131058-33131338	PFSK-1	brain:	n/a	n/a
32	CEBPB	chr15:33130919-33131317	HepG2	liver:	n/a	chr15:33131141-33131154
33	JUND	chr15:33130925-33131433	A549	lung:	n/a	n/a
34	FOS	chr15:33131018-33131318	MCF10A-Er-Src	breast:	n/a	n/a
35	SMC3	chr15:33131199-33131301	HepG2	liver:	n/a	n/a
36	BHLHE40	chr15:33131073-33131455	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:33130960-33131498	HUVEC	blood vessel:	n/a	n/a
38	FOXA1	chr15:33131026-33131377	HepG2	liver:	n/a	n/a
39	MAFK	chr15:33130899-33131423	IMR90	lung:	n/a	n/a
40	MYC	chr15:33131103-33131283	MCF10A-Er-Src	breast:	n/a	n/a
41	USF2	chr15:33131114-33131324	HepG2	liver:	n/a	n/a
42	MAFF	chr15:33131031-33131326	HepG2	liver:	n/a	n/a
43	MAX	chr15:33130616-33131615	A549	lung:	n/a	n/a
44	FOXA2	chr15:33130606-33131539	A549	lung:	n/a	n/a
45	MAX	chr15:33130693-33131495	A549	lung:	n/a	n/a
46	USF1	chr15:33131109-33131361	H1-hESC	embryonic stem cell:	n/a	n/a
47	BHLHE40	chr15:33131036-33131292	K562	blood:	n/a	n/a
48	GATA3	chr15:33130700-33131551	A549	lung:	n/a	n/a
49	FOS	chr15:33131052-33131303	MCF10A-Er-Src	breast:	n/a	n/a
50	SP1	chr15:33130842-33131515	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33126321..33128802-chr15:33129719..33131758,2	K562	blood:

Variant related genes	Relation type
ENSG00000259392	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10048026	1.00[AMR][1000 genomes]
rs1258768	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1258786	0.80[YRI][hapmap]
rs347916	1.00[AMR][1000 genomes]
rs347917	1.00[AMR][1000 genomes]
rs347918	1.00[AMR][1000 genomes]
rs347919	1.00[AMR][1000 genomes]
rs347920	1.00[AMR][1000 genomes]
rs347928	1.00[AMR][1000 genomes]
rs347929	1.00[AMR][1000 genomes]
rs347947	1.00[AMR][1000 genomes]
rs347948	1.00[AMR][1000 genomes]
rs347949	1.00[AMR][1000 genomes]
rs554839	1.00[AMR][1000 genomes]
rs556825	1.00[AMR][1000 genomes]
rs7179708	1.00[AMR][1000 genomes]
rs74012232	1.00[AMR][1000 genomes]
rs8031846	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv832961	chr15:33021177-33134988	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
2	chr15:33096200-33154000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:33096400-33159000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:33103800-33139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:33118600-33159000	Weak transcription	Gastric	stomach
6	chr15:33119400-33131600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:33127000-33141400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:33127200-33131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:33128400-33131400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:33129200-33131600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:33130000-33133400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:33130000-33136200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:33130200-33131400	Enhancers	Brain Germinal Matrix	brain
14	chr15:33130400-33131400	Active TSS	Brain Angular Gyrus	brain
15	chr15:33130400-33131800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:33130400-33132000	Enhancers	HepG2	liver
17	chr15:33130400-33132600	Enhancers	HSMM	muscle
18	chr15:33130400-33133200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr15:33130400-33133600	Enhancers	NH-A	brain
20	chr15:33130600-33131800	Enhancers	Pancreas	Pancrea
21	chr15:33130600-33131800	Enhancers	HUVEC	blood vessel
22	chr15:33130600-33132600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr15:33130600-33133200	Enhancers	Fetal Lung	lung
24	chr15:33130800-33131400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:33130800-33131400	Enhancers	Fetal Stomach	stomach
26	chr15:33130800-33131600	Enhancers	Duodenum Mucosa	Duodenum
27	chr15:33130800-33131600	Flanking Active TSS	A549	lung
28	chr15:33130800-33131800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:33130800-33131800	Active TSS	Brain Anterior Caudate	brain
30	chr15:33130800-33133400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr15:33130800-33142000	Weak transcription	Spleen	Spleen
32	chr15:33131000-33131400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:33131000-33131400	Enhancers	Stomach Smooth Muscle	stomach
34	chr15:33131000-33131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:33131000-33131800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:33131000-33131800	Enhancers	HSMMtube	muscle
37	chr15:33131000-33132000	Flanking Active TSS	Osteobl	bone
38	chr15:33131200-33131400	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr15:33131200-33131400	Enhancers	Brain Substantia Nigra	brain
40	chr15:33131200-33131400	Enhancers	Stomach Mucosa	stomach
41	chr15:33131200-33131600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:33131200-33131600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr15:33131200-33131600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:33131200-33131600	Enhancers	Lung	lung
45	chr15:33131200-33131800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr15:33131200-33131800	Flanking Active TSS	NHLF	lung
47	chr15:33131200-33132400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:33131200-33132600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:33131200-33133800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:33131200-33153800	Weak transcription	Fetal Kidney	kidney

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