Variant report

Variant	rs184635660
Chromosome Location	chr15:41165192-41165193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr15:41163444-41165568	GM12878	blood:	n/a	n/a
2	YY1	chr15:41165177-41166262	GM12878	blood:	n/a	n/a
3	CHD2	chr15:41165022-41165505	GM12878	blood:	n/a	n/a
4	EBF1	chr15:41165013-41165342	GM12878	blood:	n/a	n/a
5	WRNIP1	chr15:41163665-41165453	GM12878	blood:	n/a	n/a
6	JUND	chr15:41163587-41165283	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:41162820-41166815	Hela-S3	cervix:	n/a	n/a
8	ESRRA	chr15:41163398-41165207	GM12878	blood:	n/a	chr15:41163834-41163844 chr15:41163694-41163710 chr15:41164051-41164061 chr15:41164051-41164061 chr15:41164051-41164063 chr15:41164050-41164063
9	POLR2A	chr15:41163392-41166601	GM12878	blood:	n/a	n/a
10	EBF1	chr15:41163517-41165467	GM12878	blood:	n/a	chr15:41164195-41164206
11	SPI1	chr15:41164930-41165255	GM12878	blood:	n/a	n/a
12	CHD1	chr15:41163921-41165479	GM12878	blood:	n/a	n/a
13	ELF1	chr15:41165073-41166664	GM12878	blood:	n/a	chr15:41165943-41165955 chr15:41166058-41166070 chr15:41166084-41166096
14	RCOR1	chr15:41164933-41165272	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:41162172-41166666	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:41161854-41166680	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41165181-41165231	HRPEpiC	eye:	n/a
2	chr15:41165181-41165231	MCF-7	breast:	n/a
3	chr15:41165181-41165231	IMR90	lung:	fetal
4	chr15:41165181-41165231	ECC-1	luminal epithelium:	n/a
5	chr15:41165181-41165231	SK-N-SH	brain:	n/a
6	chr15:41165181-41165231	HL-60	blood:	n/a
7	chr15:41165181-41165231	SKMC	muscle:	n/a
8	chr15:41165181-41165231	NH-A	brain:	n/a
9	chr15:41165181-41165231	CMK	blood:	n/a
10	chr15:41165181-41165231	K562	blood:	n/a
11	chr15:41165181-41165231	A549	lung:	n/a
12	chr15:41165181-41165231	AG10803	skin:	n/a
13	chr15:41165181-41165231	PrEC	prostate:	n/a
14	chr15:41165181-41165231	AG09319	gingival:	n/a
15	chr15:41165181-41165231	PFSK-1	brain:	n/a
16	chr15:41165181-41165231	NHBE	bronchial:	n/a
17	chr15:41165181-41165231	LNCaP	prostate:	n/a
18	chr15:41165181-41165231	HRE	kidney:	n/a
19	chr15:41165181-41165231	HCPEpiC	choroid plexus:	n/a
20	chr15:41165181-41165231	AG04450	lung:	fetal
21	chr15:41165181-41165231	HPAEpiC	pulmonary alveolar:	n/a
22	chr15:41165181-41165231	MCF10A-Er-Src	breast:	n/a
23	chr15:41165181-41165231	Jurkat	blood:	n/a
24	chr15:41165181-41165231	H1-hESC	embryonic stem cell:	embryo
25	chr15:41165181-41165231	NB4	blood:	n/a
26	chr15:41165181-41165231	AG04449	skin:	fetal
27	chr15:41165181-41165231	HUVEC	blood vessel:	n/a
28	chr15:41165181-41165231	NHDF-neo	bronchial:	n/a
29	chr15:41165181-41165231	HEEpiC	esophagus:	n/a
30	chr15:41165181-41165231	GM12891	blood:	n/a
31	chr15:41165181-41165231	SK-N-MC	brain:	n/a
32	chr15:41165181-41165231	BE2_C	brain:	n/a
33	chr15:41165181-41165231	HCM	heart:	n/a
34	chr15:41165181-41165231	SAEC	small airway:	n/a
35	chr15:41165181-41165231	HRCEpiC	kidney:	n/a
36	chr15:41165181-41165231	NT2-D1	testis:	n/a
37	chr15:41165181-41165231	PANC-1	pancreas:	n/a
38	chr15:41165181-41165231	Caco-2	colon:	n/a
39	chr15:41165181-41165231	ProgFib	skin:	n/a
40	chr15:41165181-41165231	HIPEpiC	eye:	n/a
41	chr15:41165181-41165231	AoSMC	blood vessel:	n/a
42	chr15:41165181-41165231	GM19239	blood:	n/a
43	chr15:41165181-41165231	AG09309	skin:	n/a
44	chr15:41165181-41165231	RPTEC	kidney:	n/a
45	chr15:41165181-41165231	HAEpiC	amniotic membrane:	n/a
46	chr15:41165181-41165231	Hepatocyte	liver:	n/a
47	chr15:41165181-41165231	HCF	heart:	n/a
48	chr15:41165181-41165231	ovcar-3	ovarian:	n/a
49	chr15:41165181-41165231	SK-N-SH_RA	brain:	n/a
50	chr15:41165181-41165231	Hela-S3	cervix:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41134365..41142873-chr15:41160505..41167459,15	MCF-7	breast:
2	chr15:41164626..41166627-chr15:41240824..41242386,2	MCF-7	breast:
3	chr15:41135079..41139908-chr15:41161283..41167324,7	MCF-7	breast:
4	chr15:41097815..41100803-chr15:41163733..41165563,2	K562	blood:
5	chr15:41116410..41118480-chr15:41162646..41165359,2	MCF-7	breast:
6	chr15:41164000..41165836-chr15:41190857..41193283,2	K562	blood:
7	chr15:41147225..41150329-chr15:41164541..41167398,4	K562	blood:
8	chr15:41164378..41166011-chr15:41221238..41223138,2	MCF-7	breast:
9	chr15:41066752..41068835-chr15:41164487..41166836,2	K562	blood:
10	chr15:41162876..41167684-chr15:41196844..41200482,5	MCF-7	breast:
11	chr15:41163900..41166288-chr15:41184445..41186416,4	MCF-7	breast:
12	chr15:41104808..41107536-chr15:41164582..41166423,2	MCF-7	breast:
13	chr15:41161907..41163827-chr15:41163924..41166003,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264256	TF binding region
ENSG00000264256	CpG island
ENSG00000128917	Chromatin interaction
ENSG00000259405	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000251161	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	esv3343760	chr15:41165085-41167633	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
2	chr15:41150000-41165600	Weak transcription	Spleen	Spleen
3	chr15:41151600-41165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41163000-41165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41163400-41165600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:41163600-41165800	Flanking Active TSS	GM12878-XiMat	blood
7	chr15:41163600-41166000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41163800-41165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr15:41163800-41165200	Enhancers	Fetal Intestine Large	intestine
10	chr15:41163800-41165200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:41163800-41165400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr15:41163800-41165600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:41163800-41165600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:41163800-41165600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:41163800-41165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:41163800-41165800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:41163800-41165800	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:41163800-41165800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:41163800-41165800	Enhancers	HMEC	breast
20	chr15:41163800-41166200	Enhancers	Fetal Brain Male	brain
21	chr15:41164000-41165400	Weak transcription	K562	blood
22	chr15:41164000-41165600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:41164200-41165800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:41164200-41166600	Active TSS	Esophagus	oesophagus
25	chr15:41164400-41165400	Weak transcription	Colonic Mucosa	Colon
26	chr15:41164400-41165600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:41164400-41166000	Enhancers	Gastric	stomach
28	chr15:41164600-41165200	Flanking Active TSS	Placenta	Placenta
29	chr15:41164600-41165400	Weak transcription	A549	lung
30	chr15:41164600-41165600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr15:41164800-41165200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41164800-41165200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr15:41164800-41165200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:41164800-41165200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:41164800-41165200	Active TSS	Fetal Brain Female	brain
36	chr15:41164800-41165400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:41164800-41165400	Active TSS	Pancreas	Pancrea
38	chr15:41164800-41165800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:41165000-41165400	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr15:41165000-41165800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr15:41165000-41166000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:41165000-41166000	Flanking Active TSS	NHEK	skin

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