Variant report

Variant	rs574375252
Chromosome Location	chr15:41099476-41099477
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	POLR2A	chr15:41099461-41099697	A549	lung:	n/a	n/a
2	POLR2A	chr15:41098995-41099813	K562	blood:	n/a	n/a
3	JUN	chr15:41098708-41100478	K562	blood:	n/a	n/a
4	ELF1	chr15:41099470-41099970	A549	lung:	n/a	n/a
5	POLR2A	chr15:41099138-41100216	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:41098835-41100106	HCT-116	colon:	n/a	n/a
7	CREB1	chr15:41099462-41100020	ECC-1	luminal epithelium:	n/a	n/a
8	SMARCC2	chr15:41098940-41100619	Hela-S3	cervix:	n/a	chr15:41099667-41099676
9	TEAD4	chr15:41099026-41100330	K562	blood:	n/a	n/a
10	ELK1	chr15:41099085-41100118	GM12878	blood:	n/a	n/a
11	GABPA	chr15:41098953-41100142	MCF-7	breast:	n/a	chr15:41099263-41099274 chr15:41099263-41099277 chr15:41099263-41099272 chr15:41099260-41099274 chr15:41099241-41099248
12	ZNF263	chr15:41099390-41100423	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr15:41098898-41100125	H1-neurons	neurons:	n/a	n/a
14	MAZ	chr15:41099039-41100413	Hela-S3	cervix:	n/a	chr15:41099304-41099314
15	YY1	chr15:41099062-41100277	GM12878	blood:	n/a	chr15:41099303-41099312
16	RCOR1	chr15:41099234-41100341	HepG2	liver:	n/a	n/a
17	TBP	chr15:41099047-41100435	K562	blood:	n/a	n/a
18	TCF12	chr15:41098985-41100333	ECC-1	luminal epithelium:	n/a	chr15:41100085-41100095
19	POLR2A	chr15:41099040-41100459	K562	blood:	n/a	n/a
20	MAX	chr15:41098859-41100205	Hela-S3	cervix:	n/a	chr15:41099304-41099314
21	PAX5	chr15:41099165-41100030	GM12892	blood:	n/a	chr15:41099748-41099766
22	TAF1	chr15:41099148-41100138	HepG2	liver:	n/a	n/a
23	SMC3	chr15:41098987-41100276	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:41099027-41100421	NB4	blood:	n/a	n/a
25	CREB1	chr15:41099168-41100180	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:41099315-41100155	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:41099440-41099590	HUVEC	blood vessel:	n/a	n/a
28	YY1	chr15:41099285-41099938	A549	lung:	n/a	chr15:41099303-41099312
29	MAZ	chr15:41099090-41100127	GM12878	blood:	n/a	chr15:41099304-41099314
30	POLR2A	chr15:41099432-41099682	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:41099440-41099590	GM12864	blood:	n/a	n/a
32	TCF12	chr15:41099330-41100232	ECC-1	luminal epithelium:	n/a	chr15:41100085-41100095
33	SIX5	chr15:41099397-41100091	GM12878	blood:	n/a	chr15:41099667-41099676 chr15:41099669-41099678
34	POLR2A	chr15:41098849-41100262	PFSK-1	brain:	n/a	n/a
35	SIX5	chr15:41099272-41100028	A549	lung:	n/a	chr15:41099667-41099676 chr15:41099669-41099678
36	SIN3A	chr15:41098977-41100316	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr15:41099144-41100649	K562	blood:	n/a	n/a
38	POLR2A	chr15:41099092-41100226	HepG2	liver:	n/a	n/a
39	SIX5	chr15:41099062-41100113	A549	lung:	n/a	chr15:41099667-41099676 chr15:41099669-41099678
40	MXI1	chr15:41098950-41100285	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:41099133-41100174	A549	lung:	n/a	n/a
42	CTCF	chr15:41099041-41099851	K562	blood:	n/a	n/a
43	POLR2A	chr15:41099026-41100171	GM19193	blood:	n/a	n/a
44	CBX3	chr15:41098799-41100368	K562	blood:	n/a	n/a
45	UBTF	chr15:41099245-41099525	K562	blood:	n/a	n/a
46	TBP	chr15:41098884-41100047	GM12878	blood:	n/a	n/a
47	RCOR1	chr15:41099020-41100330	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr15:41099117-41100188	A549	lung:	n/a	n/a
49	ELK1	chr15:41098950-41100137	Hela-S3	cervix:	n/a	n/a
50	SMARCB1	chr15:41099114-41100642	Hela-S3	cervix:	n/a	chr15:41099667-41099676

No.	Distal block	Cell Line	Cell type
1	chr15:41045748..41048901-chr15:41096709..41101394,9	K562	blood:
2	chr15:41098203..41099826-chr15:41186017..41187981,2	K562	blood:
3	chr15:41068398..41070390-chr15:41097835..41100828,2	K562	blood:
4	chr15:41053870..41057648-chr15:41097391..41099914,3	K562	blood:
5	chr15:41054213..41057951-chr15:41097645..41100150,5	K562	blood:
6	chr15:41099271..41102222-chr15:41135281..41137187,2	K562	blood:
7	chr15:41068210..41071185-chr15:41097995..41100691,2	MCF-7	breast:
8	chr15:41098123..41102222-chr15:41134582..41138137,4	K562	blood:
9	chr15:41099333..41100176-chr9:140099690..140100435,2	Hela-S3	cervix:
10	chr15:41098099..41100613-chr15:41185742..41188181,3	K562	blood:
11	chr15:41095442..41103026-chr15:41134658..41140625,11	MCF-7	breast:
12	chr15:41098827..41099580-chr18:11851185..11852024,2	Hela-S3	cervix:
13	chr15:41097893..41103310-chr15:41103796..41109268,7	MCF-7	breast:
14	chr15:41098435..41103357-chr15:41133527..41139132,10	MCF-7	breast:
15	chr15:41045813..41047463-chr15:41099042..41101691,3	K562	blood:

Variant related genes	Relation type
ZFYVE19	TF binding region
ENSG00000137880	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000187713	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000188566	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv3312254	chr15:41098700-41100323	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3312255	chr15:41098714-41100320	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41098600-41099600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:41098600-41099600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:41098600-41100000	Active TSS	Rectal Smooth Muscle	rectum
4	chr15:41098600-41100600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41098600-41100600	Active TSS	A549	lung
6	chr15:41098600-41100600	Active TSS	HSMM	muscle
7	chr15:41098600-41100800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:41098800-41100200	Active TSS	Lung	lung
9	chr15:41098800-41100400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:41098800-41100400	Active TSS	Gastric	stomach
11	chr15:41098800-41100400	Active TSS	Pancreas	Pancrea
12	chr15:41098800-41100600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr15:41098800-41100600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:41098800-41100600	Active TSS	Psoas Muscle	Psoas
15	chr15:41098800-41100800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:41099000-41100000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:41099000-41100000	Active TSS	Fetal Muscle Trunk	muscle
18	chr15:41099000-41100200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:41099000-41100200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:41099000-41100200	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr15:41099000-41100200	Active TSS	Aorta	Aorta
22	chr15:41099000-41100200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:41099000-41100200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr15:41099000-41100400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr15:41099000-41100400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:41099000-41100400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:41099000-41100400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:41099000-41100400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:41099000-41100400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:41099000-41100400	Active TSS	Brain Hippocampus Middle	brain
31	chr15:41099000-41100400	Active TSS	Brain Substantia Nigra	brain
32	chr15:41099000-41100400	Active TSS	Colon Smooth Muscle	Colon
33	chr15:41099000-41100400	Active TSS	Esophagus	oesophagus
34	chr15:41099000-41100400	Active TSS	Left Ventricle	heart
35	chr15:41099000-41100400	Active TSS	Ovary	ovary
36	chr15:41099000-41100400	Bivalent/Poised TSS	HepG2	liver
37	chr15:41099000-41100600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr15:41099000-41100600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr15:41099000-41101000	Active TSS	NHDF-Ad	bronchial
40	chr15:41099200-41099600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:41099200-41100000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:41099200-41100000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:41099200-41100000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:41099200-41100000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:41099200-41100000	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr15:41099200-41100000	Active TSS	Primary B cells from cord blood	blood
47	chr15:41099200-41100000	Active TSS	Primary B cells from peripheral blood	blood
48	chr15:41099200-41100000	Active TSS	Primary T cells from cord blood	blood
49	chr15:41099200-41100000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr15:41099200-41100000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links