Variant report

Variant	rs73379225
Chromosome Location	chr15:31507680-31507681
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	CTCF	chr15:31506590-31508289	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
2	CUX1	chr15:31507655-31507843	GM12878	blood:	n/a	n/a
3	CTCF	chr15:31507623-31507949	GM19240	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
4	SMC3	chr15:31506778-31509180	Hela-S3	cervix:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
5	MAX	chr15:31506693-31509050	HepG2	liver:	n/a	n/a
6	RAD21	chr15:31507517-31508166	HCT-116	colon:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
7	CTCF	chr15:31507647-31507925	K562	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
8	RAD21	chr15:31507620-31508000	GM12878	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808
9	CTCF	chr15:31507680-31507830	GM12872	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
10	NR3C1	chr15:31507660-31508937	A549	lung:	n/a	chr15:31508016-31508029
11	CTCF	chr15:31507680-31507830	GM12870	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
12	MXI1	chr15:31507645-31508019	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr15:31507635-31508330	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:31506705-31509296	GM12892	blood:	n/a	n/a
15	RAD21	chr15:31507592-31508021	H1-hESC	embryonic stem cell:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
16	POLR2A	chr15:31506770-31509334	GM12878	blood:	n/a	n/a
17	NFIC	chr15:31507559-31507976	GM12878	blood:	n/a	n/a
18	JUND	chr15:31507680-31507839	H1-hESC	embryonic stem cell:	n/a	chr15:31507806-31507815
19	CTCF	chr15:31507545-31507989	K562	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
20	CTCF	chr15:31507645-31507940	Gliobla	brain:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
21	CTCF	chr15:31507680-31507830	WI-38	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
22	USF2	chr15:31507612-31507866	GM12878	blood:	n/a	n/a
23	RAD21	chr15:31507594-31508054	GM12878	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
24	ELF1	chr15:31507667-31507903	K562	blood:	n/a	n/a
25	MAX	chr15:31507583-31508438	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFIC	chr15:31507608-31508978	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr15:31507660-31507810	GM12868	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
28	RELA	chr15:31507596-31509026	GM15510	blood:	n/a	n/a
29	MAZ	chr15:31507622-31508973	HepG2	liver:	n/a	n/a
30	STAT3	chr15:31506998-31507852	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507799-31507811 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507010-31507017 chr15:31507648-31507668 chr15:31507654-31507663
31	POLR2A	chr15:31506781-31508367	GM12892	blood:	n/a	n/a
32	SMC3	chr15:31506875-31509137	SK-N-SH	brain:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
33	MAX	chr15:31507627-31508284	MCF-7	breast:	n/a	n/a
34	CREB1	chr15:31507607-31508387	A549	lung:	n/a	n/a
35	YY1	chr15:31507560-31508361	GM12892	blood:	n/a	chr15:31507808-31507819 chr15:31507798-31507809 chr15:31507810-31507819 chr15:31507801-31507815 chr15:31508155-31508166 chr15:31508225-31508234 chr15:31508049-31508058 chr15:31507810-31507824 chr15:31508220-31508234
36	RAD21	chr15:31507628-31507971	K562	blood:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808
37	POLR2A	chr15:31506745-31509203	GM15510	blood:	n/a	n/a
38	CTCF	chr15:31507680-31507830	HPF	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
39	YY1	chr15:31507572-31508075	H1-hESC	embryonic stem cell:	n/a	chr15:31507808-31507819 chr15:31507798-31507809 chr15:31507810-31507819 chr15:31507801-31507815 chr15:31508049-31508058 chr15:31507810-31507824
40	CTCF	chr15:31507644-31507936	Pancreas_OC	pancreas:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
41	STAT3	chr15:31507632-31507832	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507799-31507811 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507648-31507668 chr15:31507654-31507663
42	CTCF	chr15:31507631-31507949	GM19238	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
43	CTCF	chr15:31507655-31507933	MCF-7	breast:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
44	POLR2A	chr15:31507615-31508992	HCT-116	colon:	n/a	n/a
45	CTCF	chr15:31507665-31507935	LNCaP	prostate:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
46	CTCF	chr15:31507680-31507830	GM12865	blood:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803
47	MTA3	chr15:31506588-31509494	GM12878	blood:	n/a	n/a
48	RAD21	chr15:31507623-31508000	A549	lung:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808
49	RAD21	chr15:31507517-31508040	H1-hESC	embryonic stem cell:	n/a	chr15:31507794-31507806 chr15:31507794-31507804 chr15:31507792-31507805 chr15:31507789-31507808 chr15:31507617-31507630
50	CTCF	chr15:31507655-31507922	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840

No.	Distal block	Cell Line	Cell type
1	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
2	chr14:70826031..70826820-chr15:31507572..31508481,2	Hela-S3	cervix:
3	chr15:31507500..31508054-chr15:31782035..31782545,2	K562	blood:
4	chr15:31507329..31508126-chr3:9438102..9438856,3	Hela-S3	cervix:
5	chr10:123474380..123475190-chr15:31507516..31508220,2	MCF-7	breast:
6	chr15:31507333..31508207-chr15:31618137..31618644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259448	TF binding region
ENSG00000133983	Chromatin interaction
ENSG00000169926	Chromatin interaction
ENSG00000206573	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	87 gene(s)	inside rSNPs	diseases
5	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903836	chr15:31330280-31512652	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	esv3389877	chr15:31506685-31509233	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31504000-31507800	Enhancers	Placenta	Placenta
2	chr15:31504400-31507800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:31506400-31507800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr15:31506400-31508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr15:31506400-31508000	Flanking Active TSS	Fetal Thymus	thymus
6	chr15:31506600-31507800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:31506600-31507800	Enhancers	Lung	lung
8	chr15:31506600-31507800	Enhancers	Right Atrium	heart
9	chr15:31506600-31507800	Flanking Active TSS	Thymus	Thymus
10	chr15:31506600-31507800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr15:31506600-31509400	Enhancers	Fetal Heart	heart
12	chr15:31506800-31507800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:31506800-31507800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:31506800-31507800	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:31506800-31507800	Enhancers	Gastric	stomach
16	chr15:31506800-31507800	Enhancers	Left Ventricle	heart
17	chr15:31506800-31507800	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:31506800-31509200	Enhancers	Fetal Brain Male	brain
19	chr15:31507000-31507800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:31507000-31507800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr15:31507000-31507800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr15:31507000-31507800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:31507000-31507800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:31507000-31507800	Enhancers	Brain Angular Gyrus	brain
25	chr15:31507000-31507800	Enhancers	Fetal Muscle Leg	muscle
26	chr15:31507000-31507800	Enhancers	Pancreas	Pancrea
27	chr15:31507000-31507800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr15:31507000-31507800	Flanking Active TSS	A549	lung
29	chr15:31507000-31507800	Enhancers	NHLF	lung
30	chr15:31507000-31507800	Enhancers	Osteobl	bone
31	chr15:31507000-31509000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:31507200-31507800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr15:31507200-31507800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:31507200-31507800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr15:31507200-31507800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr15:31507200-31507800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:31507200-31507800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr15:31507200-31507800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr15:31507200-31507800	Flanking Active TSS	Liver	Liver
40	chr15:31507200-31507800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr15:31507200-31507800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:31507200-31507800	Bivalent Enhancer	Fetal Stomach	stomach
43	chr15:31507200-31507800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr15:31507200-31507800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr15:31507200-31507800	Flanking Active TSS	Spleen	Spleen
46	chr15:31507200-31507800	Enhancers	NHDF-Ad	bronchial
47	chr15:31507200-31508000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr15:31507200-31508200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:31507200-31508200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:31507200-31508200	Flanking Active TSS	HMEC	breast

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