Variant report

Variant	rs74011889
Chromosome Location	chr15:41138157-41138158
allele	C/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	FOS	chr15:41138059-41138427	MCF10A-Er-Src	breast:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
2	JUND	chr15:41138048-41138416	HepG2	liver:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
3	FOXA2	chr15:41138091-41138514	A549	lung:	n/a	n/a
4	FOXA1	chr15:41138108-41138509	HepG2	liver:	n/a	n/a
5	RCOR1	chr15:41138117-41138385	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:41138081-41138532	MCF-7	breast:	n/a	n/a
7	JUN	chr15:41138151-41138359	K562	blood:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
8	JUND	chr15:41138032-41138465	H1-hESC	embryonic stem cell:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
9	TCF12	chr15:41137857-41138653	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr15:41138098-41138411	H1-hESC	embryonic stem cell:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
11	JUND	chr15:41137891-41138571	MCF-7	breast:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
12	FOXA1	chr15:41138112-41138601	HepG2	liver:	n/a	n/a
13	SMARCC1	chr15:41137762-41140084	Hela-S3	cervix:	n/a	chr15:41138241-41138250
14	JUND	chr15:41137851-41138576	T-47D	breast:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
15	POLR2A	chr15:41137999-41138224	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr15:41138135-41138409	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr15:41138000-41138515	T-47D	breast:	n/a	chr15:41138354-41138362
18	FOXA1	chr15:41138032-41138555	T-47D	breast:	n/a	n/a
19	POLR2A	chr15:41138140-41138546	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr15:41137999-41138416	T-47D	breast:	n/a	n/a
21	GATA3	chr15:41138053-41138610	T-47D	breast:	n/a	chr15:41138354-41138362
22	FOXA1	chr15:41138074-41138514	HepG2	liver:	n/a	n/a
23	STAT3	chr15:41138122-41138318	MCF10A-Er-Src	breast:	n/a	n/a
24	JUND	chr15:41138069-41138425	K562	blood:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
25	FOSL2	chr15:41137929-41138521	HepG2	liver:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138239-41138250 chr15:41138242-41138250 chr15:41138240-41138252
26	JUND	chr15:41137695-41138544	MCF-7	breast:	n/a	chr15:41138316-41138327 chr15:41137806-41137817 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
27	GTF2F1	chr15:41138129-41138310	Hela-S3	cervix:	n/a	n/a
28	JUND	chr15:41138059-41138455	HepG2	liver:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
29	CHD2	chr15:41138130-41138321	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:41137995-41138311	H1-hESC	embryonic stem cell:	n/a	n/a
31	RFX5	chr15:41138088-41138315	Hela-S3	cervix:	n/a	n/a
32	JUND	chr15:41137663-41138619	T-47D	breast:	n/a	chr15:41138316-41138327 chr15:41137806-41137817 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
33	SIN3AK20	chr15:41137769-41138742	MCF-7	breast:	n/a	n/a
34	JUND	chr15:41138068-41138381	HepG2	liver:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
35	MAZ	chr15:41137910-41138267	Hela-S3	cervix:	n/a	n/a
36	FOSL1	chr15:41137762-41138553	HCT-116	colon:	n/a	chr15:41138316-41138327 chr15:41137806-41137817 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
37	TEAD4	chr15:41138005-41138618	HepG2	liver:	n/a	n/a
38	TCF12	chr15:41137938-41138607	ECC-1	luminal epithelium:	n/a	n/a
39	FOS	chr15:41138060-41138460	MCF10A-Er-Src	breast:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
40	JUND	chr15:41137694-41138638	HCT-116	colon:	n/a	chr15:41138316-41138327 chr15:41137806-41137817 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
41	POLR2A	chr15:41137827-41138268	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr15:41137964-41138582	MCF-7	breast:	n/a	n/a
43	JUND	chr15:41138070-41138459	Hela-S3	cervix:	n/a	chr15:41138316-41138327 chr15:41138240-41138251 chr15:41138241-41138251 chr15:41138242-41138250 chr15:41138240-41138252
44	POLR2A	chr15:41137968-41138319	HCT-116	colon:	n/a	n/a
45	MAX	chr15:41138062-41138527	ECC-1	luminal epithelium:	n/a	n/a
46	FOSL2	chr15:41137999-41138503	HepG2	liver:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138239-41138250 chr15:41138242-41138250 chr15:41138240-41138252
47	ZEB1	chr15:41137987-41138592	HepG2	liver:	n/a	chr15:41138022-41138029
48	FOSL2	chr15:41137969-41138557	MCF-7	breast:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138239-41138250 chr15:41138242-41138250 chr15:41138240-41138252
49	POLR2A	chr15:41137774-41138525	MCF-7	breast:	n/a	n/a
50	FOSL2	chr15:41137892-41138439	MCF-7	breast:	n/a	chr15:41138316-41138327 chr15:41138241-41138251 chr15:41138239-41138250 chr15:41138242-41138250 chr15:41138240-41138252

No.	Distal block	Cell Line	Cell type
1	chr15:41137977..41139735-chr15:41186627..41189501,2	MCF-7	breast:
2	chr15:41098435..41103357-chr15:41133527..41139132,10	MCF-7	breast:
3	chr15:41098633..41101215-chr15:41138030..41140092,3	K562	blood:
4	chr15:41134365..41142873-chr15:41160505..41167459,15	MCF-7	breast:
5	chr15:41036541..41039505-chr15:41136514..41138272,3	MCF-7	breast:
6	chr15:41135781..41139367-chr15:41195514..41200270,4	MCF-7	breast:
7	chr15:41137274..41141358-chr15:41148658..41151865,7	MCF-7	breast:
8	chr15:41135079..41139908-chr15:41161283..41167324,7	MCF-7	breast:
9	chr15:41137927..41140333-chr15:41154449..41156600,3	MCF-7	breast:
10	chr15:41135103..41140677-chr15:41182913..41189081,12	MCF-7	breast:
11	chr15:41095442..41103026-chr15:41134658..41140625,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261183	TF binding region
ENSG00000104129	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000137824	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28436138	1.00[AMR][1000 genomes]
rs55851751	1.00[AMR][1000 genomes]
rs57022654	1.00[AMR][1000 genomes]
rs58893179	1.00[AMR][1000 genomes]
rs59096643	1.00[AMR][1000 genomes]
rs59204074	1.00[AMR][1000 genomes]
rs60163307	1.00[AMR][1000 genomes]
rs61336574	1.00[AMR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs7167831	1.00[AMR][1000 genomes]
rs7168217	1.00[AMR][1000 genomes]
rs7178058	1.00[AMR][1000 genomes]
rs74011890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011893	1.00[AMR][1000 genomes]
rs74011933	1.00[AMR][1000 genomes]
rs74011936	1.00[AMR][1000 genomes]
rs74014709	1.00[AMR][1000 genomes]
rs74014710	1.00[AMR][1000 genomes]
rs8030883	1.00[AMR][1000 genomes]
rs8037717	1.00[AMR][1000 genomes]
rs8039169	1.00[AMR][1000 genomes]
rs9672224	1.00[AMR][1000 genomes]
rs9744142	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	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	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41135200-41138800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:41135200-41139000	Active TSS	Fetal Kidney	kidney
3	chr15:41135600-41138200	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr15:41135600-41138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:41135600-41138400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:41135600-41138600	Active TSS	Gastric	stomach
7	chr15:41135600-41140200	Active TSS	Rectal Smooth Muscle	rectum
8	chr15:41135600-41140400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:41135800-41138200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:41135800-41138800	Active TSS	Esophagus	oesophagus
11	chr15:41136000-41138400	Active TSS	Stomach Mucosa	stomach
12	chr15:41136200-41138600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:41136600-41139000	Weak transcription	A549	lung
14	chr15:41136800-41138400	Enhancers	HepG2	liver
15	chr15:41136800-41139200	Enhancers	K562	blood
16	chr15:41136800-41140400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:41137000-41138200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr15:41137000-41138200	Flanking Active TSS	Placenta	Placenta
19	chr15:41137000-41140800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr15:41137200-41138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:41137200-41139200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:41137200-41140200	Enhancers	Spleen	Spleen
23	chr15:41137400-41138200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:41137400-41138200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr15:41137400-41138400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:41137400-41138400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:41137400-41138400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:41137400-41138800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:41137400-41138800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:41137400-41138800	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr15:41137400-41139000	Weak transcription	Liver	Liver
32	chr15:41137400-41139400	Weak transcription	Primary T cells from cord blood	blood
33	chr15:41137400-41139600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr15:41137400-41140000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:41137400-41140000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:41137400-41140000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr15:41137400-41140000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr15:41137400-41140200	Enhancers	Primary B cells from peripheral blood	blood
39	chr15:41137400-41152200	Weak transcription	Small Intestine	intestine
40	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
41	chr15:41137600-41138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:41137600-41138200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:41137600-41138200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr15:41137600-41138200	Flanking Active TSS	Pancreas	Pancrea
45	chr15:41137600-41138600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr15:41137600-41138800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:41137600-41138800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr15:41137600-41139000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr15:41137600-41139000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:41137600-41139400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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