Variant report

Variant	rs36099343
Chromosome Location	chr15:75018218-75018219
allele	C/T
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	YY1	chr15:75018043-75019032	HepG2	liver:	n/a	chr15:75018313-75018322 chr15:75018675-75018684 chr15:75018310-75018319
2	MAX	chr15:75018212-75018713	NB4	blood:	n/a	chr15:75018676-75018686 chr15:75018308-75018318
3	POLR2A	chr15:75017548-75018829	HepG2	liver:	n/a	n/a
4	EGR1	chr15:75018159-75018417	K562	blood:	n/a	chr15:75018311-75018321 chr15:75018309-75018323 chr15:75018309-75018320 chr15:75018308-75018321 chr15:75018307-75018322 chr15:75018307-75018317 chr15:75018311-75018320 chr15:75018308-75018321 chr15:75018308-75018321 chr15:75018308-75018322 chr15:75018313-75018323 chr15:75018308-75018321
5	POLR2A	chr15:75018137-75018618	HepG2	liver:	n/a	n/a
6	RFX5	chr15:75018171-75018261	HepG2	liver:	n/a	n/a
7	MYBL2	chr15:75018146-75018699	HepG2	liver:	n/a	n/a
8	MAX	chr15:75018117-75019519	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
9	CHD2	chr15:75018123-75019085	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:75017199-75019216	Hela-S3	cervix:	n/a	n/a
11	EP300	chr15:75018089-75018580	HepG2	liver:	n/a	n/a
12	MAZ	chr15:75017855-75019583	IMR90	lung:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
13	HCFC1	chr15:75017435-75019834	Hela-S3	cervix:	n/a	n/a
14	NR2C2	chr15:75018211-75018969	HepG2	liver:	n/a	chr15:75018789-75018798 chr15:75018787-75018800 chr15:75018785-75018800
15	ZBTB7A	chr15:75017826-75019146	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr15:75018187-75018660	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr15:75018195-75019228	HepG2	liver:	n/a	n/a
18	RXRA	chr15:75018135-75018564	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:75017211-75019193	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr15:75017673-75019129	Hela-S3	cervix:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
21	EGR1	chr15:75018206-75018344	GM12878	blood:	n/a	chr15:75018311-75018321 chr15:75018309-75018323 chr15:75018309-75018320 chr15:75018308-75018321 chr15:75018307-75018322 chr15:75018307-75018317 chr15:75018311-75018320 chr15:75018308-75018321 chr15:75018308-75018321 chr15:75018308-75018322 chr15:75018313-75018323 chr15:75018308-75018321
22	RCOR1	chr15:75017736-75018907	Hela-S3	cervix:	n/a	n/a
23	EGR1	chr15:75018168-75018361	K562	blood:	n/a	chr15:75018311-75018321 chr15:75018309-75018323 chr15:75018309-75018320 chr15:75018308-75018321 chr15:75018307-75018322 chr15:75018307-75018317 chr15:75018311-75018320 chr15:75018308-75018321 chr15:75018308-75018321 chr15:75018308-75018322 chr15:75018313-75018323 chr15:75018308-75018321
24	HEY1	chr15:75018212-75018887	HepG2	liver:	n/a	chr15:75018308-75018323
25	NR2F2	chr15:75018145-75019133	MCF-7	breast:	n/a	chr15:75018785-75018800
26	TAF1	chr15:75018134-75019165	HepG2	liver:	n/a	n/a
27	SMARCB1	chr15:75018089-75019366	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr15:75018101-75019213	ECC-1	luminal epithelium:	n/a	chr15:75018818-75018828 chr15:75018720-75018730
29	TCF12	chr15:75018046-75019177	ECC-1	luminal epithelium:	n/a	chr15:75018818-75018828 chr15:75018098-75018105 chr15:75018720-75018730
30	ZBTB7A	chr15:75018017-75019189	ECC-1	luminal epithelium:	n/a	n/a
31	GTF2F1	chr15:75017693-75018495	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr15:75018180-75019062	HepG2	liver:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
33	EP300	chr15:75018182-75019048	HepG2	liver:	n/a	chr15:75018900-75018916
34	NR2F2	chr15:75017737-75019152	MCF-7	breast:	n/a	chr15:75018785-75018800
35	SP1	chr15:75018112-75018637	HepG2	liver:	n/a	chr15:75018312-75018324 chr15:75018314-75018323 chr15:75018312-75018324 chr15:75018314-75018323 chr15:75018313-75018322 chr15:75018313-75018323 chr15:75018313-75018323
36	MAX	chr15:75018216-75019251	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
37	CHD2	chr15:75018195-75018521	HepG2	liver:	n/a	n/a
38	MXI1	chr15:75018196-75018641	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr15:75018205-75018792	Hela-S3	cervix:	n/a	n/a
40	HNF4A	chr15:75018177-75018530	HepG2	liver:	n/a	chr15:75018394-75018406
41	POLR2A	chr15:75018162-75018582	Hela-S3	cervix:	n/a	n/a
42	SIN3A	chr15:75018175-75018871	H1-hESC	embryonic stem cell:	n/a	chr15:75018175-75018188 chr15:75018560-75018574
43	RXRA	chr15:75018118-75018688	HepG2	liver:	n/a	n/a
44	MAX	chr15:75017680-75019219	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
45	BHLHE40	chr15:75018139-75019132	HepG2	liver:	n/a	chr15:75018305-75018321
46	SMC3	chr15:75018182-75018951	Hela-S3	cervix:	n/a	chr15:75018780-75018794 chr15:75018815-75018825
47	MYC	chr15:75018174-75018753	A549	lung:	n/a	chr15:75018676-75018686 chr15:75018308-75018318
48	POLR2A	chr15:75018192-75018576	HepG2	liver:	n/a	n/a
49	ESR1	chr15:75018189-75018512	ECC-1	luminal epithelium:	n/a	n/a
50	EP300	chr15:75018164-75018561	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75018200-75018250	BE2_C	brain:	n/a
2	chr15:75018200-75018250	NB4	blood:	n/a
3	chr15:75018200-75018250	GM12892	blood:	n/a
4	chr15:75018200-75018250	HMEC	breast:	n/a
5	chr15:75018200-75018250	HCM	heart:	n/a
6	chr15:75018200-75018250	SK-N-SH_RA	brain:	n/a
7	chr15:75018200-75018250	A549	lung:	n/a
8	chr15:75018200-75018250	GM06990	blood:	n/a
9	chr15:75018200-75018250	CMK	blood:	n/a
10	chr15:75018200-75018250	HRPEpiC	eye:	n/a
11	chr15:75018200-75018250	GM12878	blood:	n/a
12	chr15:75018200-75018250	ECC-1	luminal epithelium:	n/a
13	chr15:75018200-75018250	K562	blood:	n/a
14	chr15:75018200-75018250	NT2-D1	testis:	n/a
15	chr15:75018200-75018250	HUVEC	blood vessel:	n/a
16	chr15:75018200-75018250	Caco-2	colon:	n/a
17	chr15:75018200-75018250	Jurkat	blood:	n/a
18	chr15:75018200-75018250	AG09309	skin:	n/a
19	chr15:75018200-75018250	Hela-S3	cervix:	n/a
20	chr15:75018200-75018250	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:75018200-75018250	GM12891	blood:	n/a
22	chr15:75018200-75018250	HL-60	blood:	n/a
23	chr15:75018200-75018250	PANC-1	pancreas:	n/a
24	chr15:75018200-75018250	IMR90	lung:	fetal
25	chr15:75018200-75018250	H1-hESC	embryonic stem cell:	embryo
26	chr15:75018200-75018250	HCF	heart:	n/a
27	chr15:75018200-75018250	HRCEpiC	kidney:	n/a
28	chr15:75018200-75018250	HEK293	kidney:	embryo
29	chr15:75018200-75018250	HRE	kidney:	n/a
30	chr15:75018200-75018250	PFSK-1	brain:	n/a
31	chr15:75018200-75018250	BJ	skin:	n/a
32	chr15:75018200-75018250	AG04450	lung:	fetal
33	chr15:75018200-75018250	SK-N-MC	brain:	n/a
34	chr15:75018200-75018250	HIPEpiC	eye:	n/a
35	chr15:75018200-75018250	ovcar-3	ovarian:	n/a
36	chr15:75018200-75018250	Hepatocyte	liver:	n/a
37	chr15:75018200-75018250	LNCaP	prostate:	n/a
38	chr15:75018200-75018250	SK-N-SH	brain:	n/a
39	chr15:75018200-75018250	MCF-7	breast:	n/a
40	chr15:75018200-75018250	ProgFib	skin:	n/a
41	chr15:75018200-75018250	HEEpiC	esophagus:	n/a
42	chr15:75018200-75018250	HAEpiC	amniotic membrane:	n/a
43	chr15:75018200-75018250	HCT-116	colon:	n/a
44	chr15:75018200-75018250	GM19239	blood:	n/a
45	chr15:75018200-75018250	T-47D	breast:	n/a
46	chr15:75018200-75018250	SAEC	small airway:	n/a
47	chr15:75018200-75018250	AoSMC	blood vessel:	n/a
48	chr15:75018200-75018250	AG09319	gingival:	n/a
49	chr15:75018200-75018250	HCPEpiC	choroid plexus:	n/a
50	chr15:75018200-75018250	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75017808..75018308-chr20:30194208..30195083,2	Hela-S3	cervix:

Variant related genes	Relation type
CYP1A1	TF binding region
CYP1A1	CpG island
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17861132	1.00[AMR][1000 genomes]
rs17861150	1.00[AMR][1000 genomes]
rs34268526	1.00[AMR][1000 genomes]
rs34445263	1.00[AMR][1000 genomes]
rs35766947	1.00[AMR][1000 genomes]
rs35892217	0.96[AFR][1000 genomes]
rs36074335	1.00[AMR][1000 genomes]
rs3809585	0.88[AFR][1000 genomes]
rs45485195	1.00[AMR][1000 genomes]
rs4986879	1.00[AMR][1000 genomes]
rs7163349	1.00[AMR][1000 genomes]
rs7170811	1.00[AMR][1000 genomes]
rs7170823	1.00[AMR][1000 genomes]
rs7182554	1.00[AMR][1000 genomes]
rs7496533	1.00[AMR][1000 genomes]
rs8031941	1.00[AMR][1000 genomes]
rs8036155	1.00[AMR][1000 genomes]
rs8042063	1.00[AMR][1000 genomes]
rs959572	1.00[AMR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75017600-75018600	Enhancers	Spleen	Spleen
2	chr15:75017600-75019400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:75017600-75019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:75017800-75018600	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr15:75017800-75018800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:75017800-75019000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr15:75017800-75019000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:75017800-75019000	Active TSS	Right Atrium	heart
9	chr15:75017800-75019000	Active TSS	Right Ventricle	heart
10	chr15:75017800-75019200	Active TSS	A549	lung
11	chr15:75017800-75019400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:75017800-75019400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:75018000-75018400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:75018000-75018400	Active TSS	Primary hematopoietic stem cells	blood
17	chr15:75018000-75018600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:75018000-75018600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:75018000-75018600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr15:75018000-75018600	Active TSS	Gastric	stomach
21	chr15:75018000-75018600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr15:75018000-75018800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr15:75018000-75018800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:75018000-75018800	Active TSS	Brain Angular Gyrus	brain
25	chr15:75018000-75018800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr15:75018000-75018800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:75018000-75018800	Flanking Bivalent TSS/Enh	Placenta	Placenta
28	chr15:75018000-75018800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr15:75018000-75018800	Active TSS	HepG2	liver
30	chr15:75018000-75018800	Bivalent/Poised TSS	NHEK	skin
31	chr15:75018000-75019000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr15:75018000-75019000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:75018000-75019000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:75018000-75019000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:75018000-75019000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:75018000-75019000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:75018000-75019000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:75018000-75019000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:75018000-75019000	Active TSS	Primary T cells from cord blood	blood
40	chr15:75018000-75019000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr15:75018000-75019000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr15:75018000-75019000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:75018000-75019000	Active TSS	Brain Anterior Caudate	brain
44	chr15:75018000-75019000	Active TSS	Brain Cingulate Gyrus	brain
45	chr15:75018000-75019000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr15:75018000-75019000	Active TSS	Brain Substantia Nigra	brain
47	chr15:75018000-75019000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr15:75018000-75019000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr15:75018000-75019000	Active TSS	Left Ventricle	heart
50	chr15:75018000-75019000	Active TSS	Psoas Muscle	Psoas

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