Variant report

Variant	rs3826041
Chromosome Location	chr15:75018890-75018891
allele	A/C
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	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
2	YY1	chr15:75018043-75019032	HepG2	liver:	n/a	chr15:75018313-75018322 chr15:75018675-75018684 chr15:75018310-75018319
3	HDAC2	chr15:75018236-75019053	HepG2	liver:	n/a	n/a
4	MAX	chr15:75018117-75019519	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
5	CHD2	chr15:75018123-75019085	Hela-S3	cervix:	n/a	n/a
6	MAX	chr15:75018711-75019380	H1-hESC	embryonic stem cell:	n/a	chr15:75018929-75018939
7	POLR2A	chr15:75017199-75019216	Hela-S3	cervix:	n/a	n/a
8	SP1	chr15:75018621-75019069	A549	lung:	n/a	chr15:75018945-75018954 chr15:75018811-75018820 chr15:75018944-75018953 chr15:75018945-75018954 chr15:75018810-75018819 chr15:75018935-75018949 chr15:75018943-75018955 chr15:75018928-75018942 chr15:75018810-75018819 chr15:75018943-75018955
9	POLR2A	chr15:75018230-75018904	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr15:75017855-75019583	IMR90	lung:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
11	HCFC1	chr15:75017435-75019834	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr15:75018687-75019020	GM12878	blood:	n/a	chr15:75018818-75018828 chr15:75018720-75018730
13	NR2C2	chr15:75018211-75018969	HepG2	liver:	n/a	chr15:75018789-75018798 chr15:75018787-75018800 chr15:75018785-75018800
14	YY1	chr15:75018624-75018932	GM12892	blood:	n/a	chr15:75018675-75018684
15	POLR2A	chr15:75018746-75019064	H1-neurons	neurons:	n/a	n/a
16	ZBTB7A	chr15:75017826-75019146	ECC-1	luminal epithelium:	n/a	n/a
17	BACH1	chr15:75018711-75019237	H1-hESC	embryonic stem cell:	n/a	n/a
18	RCOR1	chr15:75018195-75019228	HepG2	liver:	n/a	n/a
19	PAX5	chr15:75018666-75019114	GM12878	blood:	n/a	chr15:75019001-75019010
20	POLR2A	chr15:75017211-75019193	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr15:75017673-75019129	Hela-S3	cervix:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
22	RCOR1	chr15:75017736-75018907	Hela-S3	cervix:	n/a	n/a
23	HNF4G	chr15:75018581-75018954	HepG2	liver:	n/a	chr15:75018788-75018800 chr15:75018788-75018801 chr15:75018785-75018800 chr15:75018787-75018800 chr15:75018792-75018804 chr15:75018787-75018800 chr15:75018788-75018800 chr15:75018783-75018805 chr15:75018785-75018803 chr15:75018788-75018800 chr15:75018787-75018801 chr15:75018788-75018800 chr15:75018787-75018800
24	NR2F2	chr15:75018145-75019133	MCF-7	breast:	n/a	chr15:75018785-75018800
25	BHLHE40	chr15:75018786-75019072	GM12878	blood:	n/a	n/a
26	TCF3	chr15:75018503-75019056	GM12878	blood:	n/a	chr15:75018818-75018831 chr15:75018723-75018736
27	EP300	chr15:75018560-75019141	ECC-1	luminal epithelium:	n/a	chr15:75018900-75018916
28	TAF1	chr15:75018134-75019165	HepG2	liver:	n/a	n/a
29	SMARCB1	chr15:75018089-75019366	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr15:75018101-75019213	ECC-1	luminal epithelium:	n/a	chr15:75018818-75018828 chr15:75018720-75018730
31	PAX5	chr15:75018490-75018974	GM12892	blood:	n/a	n/a
32	CTCF	chr15:75018800-75018950	GM12864	blood:	n/a	n/a
33	TCF12	chr15:75018046-75019177	ECC-1	luminal epithelium:	n/a	chr15:75018818-75018828 chr15:75018098-75018105 chr15:75018720-75018730
34	MAX	chr15:75018252-75019090	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
35	ZBTB7A	chr15:75018017-75019189	ECC-1	luminal epithelium:	n/a	n/a
36	MAZ	chr15:75018287-75019026	GM12878	blood:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
37	MAZ	chr15:75018180-75019062	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
38	EP300	chr15:75018182-75019048	HepG2	liver:	n/a	chr15:75018900-75018916
39	ZKSCAN1	chr15:75018228-75018919	Hela-S3	cervix:	n/a	n/a
40	ZBTB7A	chr15:75018593-75018905	HepG2	liver:	n/a	n/a
41	BCL11A	chr15:75018657-75018959	GM12878	blood:	n/a	chr15:75018676-75018685
42	POLR2A	chr15:75018636-75018978	ECC-1	luminal epithelium:	n/a	n/a
43	NR2F2	chr15:75017737-75019152	MCF-7	breast:	n/a	chr15:75018785-75018800
44	CTCF	chr15:75018740-75018890	GM12873	blood:	n/a	chr15:75018778-75018796 chr15:75018781-75018794
45	MAX	chr15:75018216-75019251	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
46	SP1	chr15:75018787-75019142	A549	lung:	n/a	chr15:75018945-75018954 chr15:75018811-75018820 chr15:75018944-75018953 chr15:75018945-75018954 chr15:75018810-75018819 chr15:75018935-75018949 chr15:75018943-75018955 chr15:75018928-75018942 chr15:75018810-75018819 chr15:75018943-75018955
47	MXI1	chr15:75018219-75019155	HepG2	liver:	n/a	chr15:75018818-75018827
48	EBF1	chr15:75018665-75019013	GM12878	blood:	n/a	n/a
49	CEBPD	chr15:75018704-75019037	HepG2	liver:	n/a	n/a
50	MAX	chr15:75017680-75019219	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75018852-75018902	LNCaP	prostate:	n/a
2	chr15:75018852-75018902	HAEpiC	amniotic membrane:	n/a
3	chr15:75018852-75018902	HRE	kidney:	n/a
4	chr15:75018852-75018902	HEEpiC	esophagus:	n/a
5	chr15:75018852-75018902	AG04449	skin:	fetal
6	chr15:75018852-75018902	GM06990	blood:	n/a
7	chr15:75018852-75018902	NB4	blood:	n/a
8	chr15:75018852-75018902	ProgFib	skin:	n/a
9	chr15:75018852-75018902	HUVEC	blood vessel:	n/a
10	chr15:75018852-75018902	GM19239	blood:	n/a
11	chr15:75018852-75018902	GM12878	blood:	n/a
12	chr15:75018852-75018902	HCPEpiC	choroid plexus:	n/a
13	chr15:75018852-75018902	Jurkat	blood:	n/a
14	chr15:75018852-75018902	HCT-116	colon:	n/a
15	chr15:75018852-75018902	RPTEC	kidney:	n/a
16	chr15:75018852-75018902	ECC-1	luminal epithelium:	n/a
17	chr15:75018852-75018902	H1-hESC	embryonic stem cell:	embryo
18	chr15:75018852-75018902	PrEC	prostate:	n/a
19	chr15:75018852-75018902	IMR90	lung:	fetal
20	chr15:75018852-75018902	T-47D	breast:	n/a
21	chr15:75018852-75018902	A549	lung:	n/a
22	chr15:75018852-75018902	GM12892	blood:	n/a
23	chr15:75018852-75018902	NT2-D1	testis:	n/a
24	chr15:75018852-75018902	CMK	blood:	n/a
25	chr15:75018852-75018902	HRPEpiC	eye:	n/a
26	chr15:75018852-75018902	Hepatocyte	liver:	n/a
27	chr15:75018852-75018902	HEK293	kidney:	embryo
28	chr15:75018852-75018902	SK-N-SH	brain:	n/a
29	chr15:75018852-75018902	NH-A	brain:	n/a
30	chr15:75018852-75018902	HIPEpiC	eye:	n/a
31	chr15:75018852-75018902	AoSMC	blood vessel:	n/a
32	chr15:75018852-75018902	PANC-1	pancreas:	n/a
33	chr15:75018852-75018902	HCM	heart:	n/a
34	chr15:75018852-75018902	HMEC	breast:	n/a
35	chr15:75018852-75018902	U87	brain:	n/a
36	chr15:75018852-75018902	AG04450	lung:	fetal
37	chr15:75018852-75018902	HL-60	blood:	n/a
38	chr15:75018852-75018902	NHDF-neo	bronchial:	n/a
39	chr15:75018852-75018902	HNPCEpiC	eye:	n/a
40	chr15:75018852-75018902	Caco-2	colon:	n/a
41	chr15:75018852-75018902	HRCEpiC	kidney:	n/a
42	chr15:75018852-75018902	SK-N-MC	brain:	n/a
43	chr15:75018852-75018902	HPAEpiC	pulmonary alveolar:	n/a
44	chr15:75018852-75018902	AG09319	gingival:	n/a
45	chr15:75018852-75018902	SAEC	small airway:	n/a
46	chr15:75018852-75018902	K562	blood:	n/a
47	chr15:75018852-75018902	NHBE	bronchial:	n/a
48	chr15:75018852-75018902	AG09309	skin:	n/a
49	chr15:75018852-75018902	HCF	heart:	n/a
50	chr15:75018852-75018902	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75014713..75016571-chr15:75018498..75020290,2	MCF-7	breast:
2	chr1:228327770..228328519-chr15:75018280..75019280,2	Hela-S3	cervix:
3	chr15:75018522..75021766-chr15:75024358..75026673,3	MCF-7	breast:

Variant related genes	Relation type
CYP1A1	TF binding region
CYP1A1	CpG island
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11072500	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1456432	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2198843	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4886605	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6495121	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7495708	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9672559	0.84[ASN][1000 genomes]

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:123 , 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	chr15:75017800-75019000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:75017800-75019000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:75017800-75019000	Active TSS	Right Atrium	heart
6	chr15:75017800-75019000	Active TSS	Right Ventricle	heart
7	chr15:75017800-75019200	Active TSS	A549	lung
8	chr15:75017800-75019400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:75017800-75019400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:75018000-75019000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr15:75018000-75019000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:75018000-75019000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75018000-75019000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:75018000-75019000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:75018000-75019000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:75018000-75019000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:75018000-75019000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr15:75018000-75019000	Active TSS	Primary T cells from cord blood	blood
21	chr15:75018000-75019000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr15:75018000-75019000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr15:75018000-75019000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:75018000-75019000	Active TSS	Brain Anterior Caudate	brain
25	chr15:75018000-75019000	Active TSS	Brain Cingulate Gyrus	brain
26	chr15:75018000-75019000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:75018000-75019000	Active TSS	Brain Substantia Nigra	brain
28	chr15:75018000-75019000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr15:75018000-75019000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr15:75018000-75019000	Active TSS	Left Ventricle	heart
31	chr15:75018000-75019000	Active TSS	Psoas Muscle	Psoas
32	chr15:75018000-75019000	Active TSS	Rectal Smooth Muscle	rectum
33	chr15:75018000-75019000	Active TSS	Hela-S3	cervix
34	chr15:75018000-75019200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:75018000-75019200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:75018000-75019200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:75018000-75019200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr15:75018000-75019200	Active TSS	Aorta	Aorta
39	chr15:75018000-75019200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr15:75018000-75019200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr15:75018000-75019200	Bivalent/Poised TSS	Thymus	Thymus
42	chr15:75018000-75019200	Flanking Active TSS	HMEC	breast
43	chr15:75018000-75019200	Bivalent/Poised TSS	NH-A	brain
44	chr15:75018000-75019400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr15:75018000-75019400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr15:75018000-75019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:75018000-75019400	Flanking Active TSS	Liver	Liver
48	chr15:75018000-75019400	Flanking Active TSS	Ovary	ovary
49	chr15:75018000-75019400	Bivalent/Poised TSS	HSMM	muscle
50	chr15:75018000-75019600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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