Variant report

Variant	rs36090160
Chromosome Location	chr15:75019185-75019186
allele	A/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	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	POLR2A	chr15:75017199-75019216	Hela-S3	cervix:	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	POLR2A	chr15:75018985-75019287	HepG2	liver:	n/a	n/a
9	BACH1	chr15:75018711-75019237	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr15:75018195-75019228	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:75017211-75019193	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:75018985-75019203	MCF-7	breast:	n/a	n/a
13	KAP1	chr15:75019104-75019587	HEK293	kidney:	n/a	n/a
14	E2F6	chr15:75018909-75019396	H1-hESC	embryonic stem cell:	n/a	chr15:75019190-75019202
15	SMARCB1	chr15:75018089-75019366	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr15:75018101-75019213	ECC-1	luminal epithelium:	n/a	chr15:75018818-75018828 chr15:75018720-75018730
17	ZBTB7A	chr15:75018017-75019189	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr15:75018216-75019251	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318
19	MAX	chr15:75017680-75019219	ECC-1	luminal epithelium:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318 chr15:75018151-75018161
20	ZNF263	chr15:75019026-75019573	HEK293-T-REx	kidney:	n/a	n/a
21	EP300	chr15:75018094-75019245	ECC-1	luminal epithelium:	n/a	chr15:75018900-75018916
22	POLR2A	chr15:75017469-75019568	HepG2	liver:	n/a	n/a
23	MAX	chr15:75018289-75019359	H1-hESC	embryonic stem cell:	n/a	chr15:75018676-75018686 chr15:75018929-75018939 chr15:75018308-75018318

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75019143-75019193	HepG2	liver:	n/a
2	chr15:75019143-75019193	BE2_C	brain:	n/a
3	chr15:75019143-75019193	IMR90	lung:	fetal
4	chr15:75019143-75019193	SK-N-SH_RA	brain:	n/a
5	chr15:75019143-75019193	ovcar-3	ovarian:	n/a
6	chr15:75019143-75019193	Hela-S3	cervix:	n/a
7	chr15:75019143-75019193	HRPEpiC	eye:	n/a
8	chr15:75019143-75019193	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:75019143-75019193	T-47D	breast:	n/a
10	chr15:75019143-75019193	AG09319	gingival:	n/a
11	chr15:75019143-75019193	AoSMC	blood vessel:	n/a
12	chr15:75019143-75019193	MCF10A-Er-Src	breast:	n/a
13	chr15:75019143-75019193	HNPCEpiC	eye:	n/a
14	chr15:75019143-75019193	NB4	blood:	n/a
15	chr15:75019143-75019193	HCPEpiC	choroid plexus:	n/a
16	chr15:75019143-75019193	LNCaP	prostate:	n/a
17	chr15:75019143-75019193	HCM	heart:	n/a
18	chr15:75019143-75019193	MCF-7	breast:	n/a
19	chr15:75019143-75019193	Hepatocyte	liver:	n/a
20	chr15:75019143-75019193	Caco-2	colon:	n/a
21	chr15:75019143-75019193	ProgFib	skin:	n/a
22	chr15:75019143-75019193	K562	blood:	n/a
23	chr15:75019143-75019193	Jurkat	blood:	n/a
24	chr15:75019143-75019193	GM12878	blood:	n/a
25	chr15:75019143-75019193	NT2-D1	testis:	n/a
26	chr15:75019143-75019193	AG09309	skin:	n/a
27	chr15:75019143-75019193	HL-60	blood:	n/a
28	chr15:75019143-75019193	AG04449	skin:	fetal
29	chr15:75019143-75019193	PFSK-1	brain:	n/a
30	chr15:75019143-75019193	HRE	kidney:	n/a
31	chr15:75019143-75019193	H1-hESC	embryonic stem cell:	embryo
32	chr15:75019143-75019193	GM06990	blood:	n/a
33	chr15:75019143-75019193	GM12891	blood:	n/a
34	chr15:75019143-75019193	U87	brain:	n/a
35	chr15:75019143-75019193	GM12892	blood:	n/a
36	chr15:75019143-75019193	HRCEpiC	kidney:	n/a
37	chr15:75019143-75019193	SAEC	small airway:	n/a
38	chr15:75019143-75019193	HMEC	breast:	n/a
39	chr15:75019143-75019193	PrEC	prostate:	n/a
40	chr15:75019143-75019193	HUVEC	blood vessel:	n/a
41	chr15:75019143-75019193	BJ	skin:	n/a
42	chr15:75019143-75019193	AG10803	skin:	n/a
43	chr15:75019143-75019193	HCF	heart:	n/a
44	chr15:75019143-75019193	HEEpiC	esophagus:	n/a
45	chr15:75019143-75019193	SK-N-SH	brain:	n/a
46	chr15:75019143-75019193	A549	lung:	n/a
47	chr15:75019143-75019193	HEK293	kidney:	embryo
48	chr15:75019143-75019193	HAEpiC	amniotic membrane:	n/a
49	chr15:75019143-75019193	SK-N-MC	brain:	n/a
50	chr15:75019143-75019193	AG04450	lung:	fetal

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:
4	chr15:75008995..75011604-chr15:75018955..75020856,2	K562	blood:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11547808	0.85[AFR][1000 genomes]
rs17861081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34255805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35570076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35646069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45527133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57469673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58286051	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58763676	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59046618	1.00[EUR][1000 genomes]
rs59620060	1.00[EUR][1000 genomes]
rs59773112	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60360792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60439061	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60525627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814674	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61204492	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74025855	1.00[EUR][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	chr15:75017600-75019400	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	chr15:75017800-75019200	Active TSS	A549	lung
4	chr15:75017800-75019400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:75017800-75019400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:75017800-75019400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:75018000-75019200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:75018000-75019200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:75018000-75019200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:75018000-75019200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr15:75018000-75019200	Active TSS	Aorta	Aorta
13	chr15:75018000-75019200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:75018000-75019200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr15:75018000-75019200	Bivalent/Poised TSS	Thymus	Thymus
16	chr15:75018000-75019200	Flanking Active TSS	HMEC	breast
17	chr15:75018000-75019200	Bivalent/Poised TSS	NH-A	brain
18	chr15:75018000-75019400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:75018000-75019400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr15:75018000-75019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:75018000-75019400	Flanking Active TSS	Liver	Liver
22	chr15:75018000-75019400	Flanking Active TSS	Ovary	ovary
23	chr15:75018000-75019400	Bivalent/Poised TSS	HSMM	muscle
24	chr15:75018000-75019600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr15:75018200-75019200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:75018200-75019200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:75018200-75019200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:75018200-75019200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr15:75018200-75019200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr15:75018200-75019200	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr15:75018200-75019200	Flanking Active TSS	HUVEC	blood vessel
32	chr15:75018200-75019200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr15:75018200-75019200	Flanking Bivalent TSS/Enh	Osteobl	bone
34	chr15:75018200-75019400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:75018200-75019400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
38	chr15:75018200-75019400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr15:75018200-75019400	Bivalent/Poised TSS	NHLF	lung
40	chr15:75018400-75019200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
41	chr15:75018600-75019400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:75018600-75019400	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr15:75018600-75021000	Enhancers	Fetal Heart	heart
44	chr15:75018800-75019200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr15:75018800-75019200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:75018800-75019200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:75018800-75019200	Bivalent/Poised TSS	HSMMtube	muscle
48	chr15:75018800-75019400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:75018800-75019400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr15:75018800-75019400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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