Variant report

Variant	rs3809585
Chromosome Location	chr15:75019289-75019290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:75019036-75019652	HepG2	liver:	n/a	n/a
2	E2F6	chr15:75018266-75019433	H1-hESC	embryonic stem cell:	n/a	chr15:75018313-75018322 chr15:75019190-75019202 chr15:75018675-75018684 chr15:75018673-75018683 chr15:75018829-75018838
3	MAX	chr15:75018117-75019519	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
4	MAX	chr15:75018711-75019380	H1-hESC	embryonic stem cell:	n/a	chr15:75018929-75018939
5	KAP1	chr15:75019285-75019513	U2OS	brain:	n/a	n/a
6	MAZ	chr15:75017855-75019583	IMR90	lung:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
7	HCFC1	chr15:75017435-75019834	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr15:75019104-75019587	HEK293	kidney:	n/a	n/a
9	E2F6	chr15:75018909-75019396	H1-hESC	embryonic stem cell:	n/a	chr15:75019190-75019202
10	SMARCB1	chr15:75018089-75019366	Hela-S3	cervix:	n/a	n/a
11	FOXA2	chr15:75019265-75019540	HepG2	liver:	n/a	n/a
12	ZNF263	chr15:75019026-75019573	HEK293-T-REx	kidney:	n/a	n/a
13	FOXA1	chr15:75019264-75019679	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:75017469-75019568	HepG2	liver:	n/a	n/a
15	MAX	chr15:75018289-75019359	H1-hESC	embryonic stem cell:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75019283-75019333	HPAEpiC	pulmonary alveolar:	n/a
2	chr15:75019251-75019301	AG09309	skin:	n/a
3	chr15:75019251-75019301	HRPEpiC	eye:	n/a
4	chr15:75019251-75019301	GM19239	blood:	n/a
5	chr15:75019283-75019333	SK-N-SH_RA	brain:	n/a
6	chr15:75019283-75019333	T-47D	breast:	n/a
7	chr15:75019251-75019301	Hela-S3	cervix:	n/a
8	chr15:75019251-75019301	PFSK-1	brain:	n/a
9	chr15:75019251-75019301	NHBE	bronchial:	n/a
10	chr15:75019283-75019333	H1-hESC	embryonic stem cell:	embryo
11	chr15:75019251-75019301	AG04450	lung:	fetal
12	chr15:75019283-75019333	HepG2	liver:	n/a
13	chr15:75019251-75019301	GM12878	blood:	n/a
14	chr15:75019283-75019333	HMEC	breast:	n/a
15	chr15:75019251-75019301	HCT-116	colon:	n/a
16	chr15:75019283-75019333	GM19239	blood:	n/a
17	chr15:75019283-75019333	NT2-D1	testis:	n/a
18	chr15:75019251-75019301	K562	blood:	n/a
19	chr15:75019251-75019301	NB4	blood:	n/a
20	chr15:75019283-75019333	BE2_C	brain:	n/a
21	chr15:75019251-75019301	AoSMC	blood vessel:	n/a
22	chr15:75019251-75019301	ECC-1	luminal epithelium:	n/a
23	chr15:75019283-75019333	HNPCEpiC	eye:	n/a
24	chr15:75019283-75019333	Hela-S3	cervix:	n/a
25	chr15:75019251-75019301	ProgFib	skin:	n/a
26	chr15:75019283-75019333	ovcar-3	ovarian:	n/a
27	chr15:75019283-75019333	AG10803	skin:	n/a
28	chr15:75019283-75019333	HAEpiC	amniotic membrane:	n/a
29	chr15:75019283-75019333	AG09319	gingival:	n/a
30	chr15:75019251-75019301	BE2_C	brain:	n/a
31	chr15:75019251-75019301	Hepatocyte	liver:	n/a
32	chr15:75019251-75019301	A549	lung:	n/a
33	chr15:75019251-75019301	PrEC	prostate:	n/a
34	chr15:75019251-75019301	CMK	blood:	n/a
35	chr15:75019283-75019333	BJ	skin:	n/a
36	chr15:75019283-75019333	SK-N-SH	brain:	n/a
37	chr15:75019283-75019333	SAEC	small airway:	n/a
38	chr15:75019283-75019333	AG09309	skin:	n/a
39	chr15:75019283-75019333	PANC-1	pancreas:	n/a
40	chr15:75019251-75019301	MCF-7	breast:	n/a
41	chr15:75019251-75019301	MCF10A-Er-Src	breast:	n/a
42	chr15:75019283-75019333	HRE	kidney:	n/a
43	chr15:75019283-75019333	ECC-1	luminal epithelium:	n/a
44	chr15:75019251-75019301	NT2-D1	testis:	n/a
45	chr15:75019251-75019301	SK-N-SH_RA	brain:	n/a
46	chr15:75019251-75019301	PANC-1	pancreas:	n/a
47	chr15:75019283-75019333	SK-N-MC	brain:	n/a
48	chr15:75019283-75019333	HEK293	kidney:	embryo
49	chr15:75019283-75019333	PrEC	prostate:	n/a
50	chr15:75019283-75019333	Hepatocyte	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75014713..75016571-chr15:75018498..75020290,2	MCF-7	breast:
2	chr15:75018522..75021766-chr15:75024358..75026673,3	MCF-7	breast:
3	chr15:75008995..75011604-chr15:75018955..75020856,2	K562	blood:

No data

Variant related genes	Relation type
CYP1A1	TF binding region
CYP1A1	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34331219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34458627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35434501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35892217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36099343	0.88[AFR][1000 genomes]
rs45627134	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4986879	0.82[YRI][hapmap]
rs55726155	1.00[EUR][1000 genomes]
rs8031941	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers 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 miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv2763106	chr15:75014464-75034186	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75017600-75019400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr15:75017600-75019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:75017800-75019400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr15:75017800-75019400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:75018000-75019400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:75018000-75019400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr15:75018000-75019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:75018000-75019400	Flanking Active TSS	Liver	Liver
11	chr15:75018000-75019400	Flanking Active TSS	Ovary	ovary
12	chr15:75018000-75019400	Bivalent/Poised TSS	HSMM	muscle
13	chr15:75018000-75019600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:75018200-75019400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:75018200-75019400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr15:75018200-75019400	Bivalent/Poised TSS	NHLF	lung
20	chr15:75018600-75019400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:75018600-75019400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr15:75018600-75021000	Enhancers	Fetal Heart	heart
23	chr15:75018800-75019400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:75018800-75019400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr15:75018800-75019400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr15:75018800-75019400	Bivalent Enhancer	Fetal Thymus	thymus
27	chr15:75018800-75019400	Flanking Active TSS	Pancreas	Pancrea
28	chr15:75018800-75019400	Flanking Active TSS	HepG2	liver
29	chr15:75018800-75019400	Flanking Bivalent TSS/Enh	NHEK	skin
30	chr15:75018800-75019600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr15:75018800-75019600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr15:75019000-75019400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:75019000-75019400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
42	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr15:75019000-75019400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:75019000-75019400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr15:75019000-75019400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr15:75019000-75019400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr15:75019000-75019400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr15:75019000-75019400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr15:75019000-75019400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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