Variant report

Variant	rs57958502
Chromosome Location	chr15:41575966-41575967
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	POLR2A	chr15:41575738-41576742	K562	blood:	n/a	n/a
2	ELK1	chr15:41575905-41576316	Hela-S3	cervix:	n/a	n/a
3	MAX	chr15:41575754-41576670	ECC-1	luminal epithelium:	n/a	chr15:41575945-41575956 chr15:41575946-41575956 chr15:41575947-41575956 chr15:41575945-41575954 chr15:41575944-41575957 chr15:41575944-41575957 chr15:41575946-41575955 chr15:41575945-41575956 chr15:41575944-41575959 chr15:41575944-41575957 chr15:41575942-41575957 chr15:41576432-41576442 chr15:41575945-41575955
4	IRF3	chr15:41575914-41576243	HepG2	liver:	n/a	chr15:41576156-41576170
5	FOS	chr15:41575861-41576304	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:41575448-41576527	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:41575730-41576459	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr15:41575791-41576488	HUVEC	blood vessel:	n/a	n/a
9	PBX3	chr15:41575929-41576226	GM12878	blood:	n/a	chr15:41576072-41576092
10	TCF7L2	chr15:41575888-41576920	Hela-S3	cervix:	n/a	n/a
11	GTF2B	chr15:41575877-41576372	K562	blood:	n/a	n/a
12	HCFC1	chr15:41575229-41577417	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr15:41575823-41576326	Hela-S3	cervix:	n/a	n/a
14	PML	chr15:41575803-41577166	K562	blood:	n/a	n/a
15	POLR2A	chr15:41575854-41577532	K562	blood:	n/a	n/a
16	POU2F2	chr15:41575859-41576426	GM12891	blood:	n/a	n/a
17	TAF1	chr15:41575751-41576978	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:41575853-41576458	HCT-116	colon:	n/a	n/a
19	USF2	chr15:41575742-41576303	Hela-S3	cervix:	n/a	chr15:41576147-41576163 chr15:41576150-41576166 chr15:41575944-41575955 chr15:41576148-41576164
20	USF1	chr15:41575779-41576320	ECC-1	luminal epithelium:	n/a	chr15:41576147-41576163 chr15:41576150-41576166 chr15:41576148-41576164
21	POLR2A	chr15:41574576-41578071	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr15:41575704-41576884	SK-N-SH	brain:	n/a	chr15:41576212-41576224 chr15:41576154-41576163 chr15:41576152-41576166 chr15:41576152-41576163 chr15:41576157-41576166
23	MYC	chr15:41575745-41576459	K562	blood:	n/a	chr15:41575945-41575956 chr15:41575946-41575956 chr15:41575947-41575956 chr15:41575945-41575954 chr15:41575944-41575957 chr15:41575944-41575957 chr15:41575946-41575955 chr15:41575945-41575956 chr15:41575944-41575959 chr15:41575944-41575957 chr15:41575942-41575957 chr15:41576432-41576442 chr15:41575945-41575955
24	POLR2A	chr15:41575513-41577380	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:41575771-41576458	H1-hESC	embryonic stem cell:	n/a	n/a
26	POU2F2	chr15:41575852-41576531	GM12891	blood:	n/a	n/a
27	FOS	chr15:41575895-41576328	Hela-S3	cervix:	n/a	n/a
28	SP1	chr15:41575680-41576526	A549	lung:	n/a	chr15:41576158-41576167 chr15:41576156-41576167 chr15:41576157-41576166 chr15:41576157-41576167 chr15:41576433-41576442 chr15:41576157-41576167 chr15:41576156-41576168 chr15:41576432-41576441 chr15:41576156-41576168 chr15:41576158-41576167
29	POLR2A	chr15:41575760-41576436	U87	brain:	n/a	n/a
30	MYBL2	chr15:41575664-41576509	HepG2	liver:	n/a	n/a
31	SP1	chr15:41575789-41576480	H1-hESC	embryonic stem cell:	n/a	chr15:41576158-41576167 chr15:41576156-41576167 chr15:41576157-41576166 chr15:41576157-41576167 chr15:41576433-41576442 chr15:41576157-41576167 chr15:41576156-41576168 chr15:41576432-41576441 chr15:41576156-41576168 chr15:41576158-41576167
32	TEAD4	chr15:41575702-41576368	K562	blood:	n/a	n/a
33	USF1	chr15:41575829-41576097	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:41575676-41576478	PANC-1	pancreas:	n/a	n/a
35	SREBP1	chr15:41575939-41576443	HepG2	liver:	n/a	n/a
36	CREB1	chr15:41575733-41576701	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:41575736-41576770	GM19099	blood:	n/a	n/a
38	EP300	chr15:41575836-41576410	K562	blood:	n/a	n/a
39	TRIM28	chr15:41575669-41576509	K562	blood:	n/a	n/a
40	POLR2A	chr15:41575785-41577184	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr15:41575763-41576213	A549	lung:	n/a	chr15:41575945-41575956 chr15:41575946-41575956 chr15:41575947-41575956 chr15:41575945-41575954 chr15:41575944-41575957 chr15:41575944-41575957 chr15:41575946-41575955 chr15:41575945-41575956 chr15:41575944-41575959 chr15:41575944-41575957 chr15:41575942-41575957 chr15:41575945-41575955
42	ELF1	chr15:41575813-41576557	GM12878	blood:	n/a	chr15:41576155-41576167 chr15:41576149-41576161
43	CHD2	chr15:41575844-41576494	GM12878	blood:	n/a	n/a
44	USF1	chr15:41575793-41576352	K562	blood:	n/a	chr15:41576147-41576163 chr15:41576150-41576166 chr15:41576148-41576164
45	MAX	chr15:41575813-41576428	SK-N-SH	brain:	n/a	chr15:41575945-41575956 chr15:41575946-41575956 chr15:41575947-41575956 chr15:41575945-41575954 chr15:41575944-41575957 chr15:41575944-41575957 chr15:41575946-41575955 chr15:41575945-41575956 chr15:41575944-41575959 chr15:41575944-41575957 chr15:41575942-41575957 chr15:41575945-41575955
46	POLR2A	chr15:41575764-41576874	K562	blood:	n/a	n/a
47	POLR2A	chr15:41575690-41576721	GM18505	blood:	n/a	n/a
48	USF2	chr15:41575784-41576104	HepG2	liver:	n/a	chr15:41575944-41575955
49	CREB1	chr15:41575833-41576378	ECC-1	luminal epithelium:	n/a	n/a
50	ZNF143	chr15:41575935-41576385	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41575924-41575974	NHDF-neo	bronchial:	n/a
2	chr15:41575924-41575974	A549	lung:	n/a
3	chr15:41575950-41576000	PrEC	prostate:	n/a
4	chr15:41575924-41575974	HIPEpiC	eye:	n/a
5	chr15:41575950-41576000	HEEpiC	esophagus:	n/a
6	chr15:41575924-41575974	AoSMC	blood vessel:	n/a
7	chr15:41575924-41575974	SK-N-SH	brain:	n/a
8	chr15:41575950-41576000	ProgFib	skin:	n/a
9	chr15:41575924-41575974	SKMC	muscle:	n/a
10	chr15:41575924-41575974	HPAEpiC	pulmonary alveolar:	n/a
11	chr15:41575950-41576000	IMR90	lung:	fetal
12	chr15:41575950-41576000	Hela-S3	cervix:	n/a
13	chr15:41575924-41575974	HRPEpiC	eye:	n/a
14	chr15:41575924-41575974	HepG2	liver:	n/a
15	chr15:41575950-41576000	SKMC	muscle:	n/a
16	chr15:41575950-41576000	ECC-1	luminal epithelium:	n/a
17	chr15:41575924-41575974	NH-A	brain:	n/a
18	chr15:41575950-41576000	Hepatocyte	liver:	n/a
19	chr15:41575950-41576000	AoSMC	blood vessel:	n/a
20	chr15:41575924-41575974	NB4	blood:	n/a
21	chr15:41575924-41575974	HRE	kidney:	n/a
22	chr15:41575950-41576000	GM12892	blood:	n/a
23	chr15:41575950-41576000	AG04449	skin:	fetal
24	chr15:41575924-41575974	SK-N-MC	brain:	n/a
25	chr15:41575924-41575974	SK-N-SH_RA	brain:	n/a
26	chr15:41575950-41576000	SAEC	small airway:	n/a
27	chr15:41575950-41576000	MCF10A-Er-Src	breast:	n/a
28	chr15:41575924-41575974	Caco-2	colon:	n/a
29	chr15:41575924-41575974	Hela-S3	cervix:	n/a
30	chr15:41575950-41576000	HRCEpiC	kidney:	n/a
31	chr15:41575950-41576000	HL-60	blood:	n/a
32	chr15:41575950-41576000	GM06990	blood:	n/a
33	chr15:41575924-41575974	GM12878	blood:	n/a
34	chr15:41575924-41575974	PANC-1	pancreas:	n/a
35	chr15:41575950-41576000	NHDF-neo	bronchial:	n/a
36	chr15:41575950-41576000	H1-hESC	embryonic stem cell:	embryo
37	chr15:41575950-41576000	LNCaP	prostate:	n/a
38	chr15:41575950-41576000	T-47D	breast:	n/a
39	chr15:41575950-41576000	GM12891	blood:	n/a
40	chr15:41575924-41575974	HCPEpiC	choroid plexus:	n/a
41	chr15:41575924-41575974	HL-60	blood:	n/a
42	chr15:41575950-41576000	K562	blood:	n/a
43	chr15:41575950-41576000	Caco-2	colon:	n/a
44	chr15:41575950-41576000	GM19239	blood:	n/a
45	chr15:41575924-41575974	LNCaP	prostate:	n/a
46	chr15:41575924-41575974	HEEpiC	esophagus:	n/a
47	chr15:41575950-41576000	HCF	heart:	n/a
48	chr15:41575950-41576000	BJ	skin:	n/a
49	chr15:41575924-41575974	ECC-1	luminal epithelium:	n/a
50	chr15:41575950-41576000	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41522897..41527944-chr15:41573906..41578128,9	K562	blood:
2	chr15:41573497..41577986-chr15:41624362..41627823,9	K562	blood:
3	chr15:41575391..41577503-chr15:41623750..41625308,2	MCF-7	breast:
4	chr15:41548966..41550602-chr15:41575421..41577159,2	MCF-7	breast:
5	chr15:41575813..41576546-chrX:77150464..77151239,2	Hela-S3	cervix:
6	chr15:41575902..41576619-chr2:217363468..217364442,2	Hela-S3	cervix:
7	chr15:41575562..41576409-chr16:29827474..29828257,2	Hela-S3	cervix:
8	chr15:41407604..41409854-chr15:41574990..41577590,2	K562	blood:
9	chr15:41575115..41577125-chr15:41624466..41626801,3	MCF-7	breast:
10	chr15:40986884..40987798-chr15:41575787..41576375,2	Hela-S3	cervix:
11	chr15:41574856..41577423-chr15:41692996..41695992,2	K562	blood:
12	chr15:41575902..41576723-chr20:48789103..48789610,2	Hela-S3	cervix:
13	chr15:41522629..41527275-chr15:41575215..41577611,6	K562	blood:
14	chr15:41575029..41577348-chr15:41624329..41626974,5	K562	blood:

Variant related genes	Relation type
OIP5-AS1	TF binding region
OIP5-AS1	CpG island
ENSG00000263136	Chromatin interaction
ENSG00000178997	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000104147	Chromatin interaction
ENSG00000232485	Chromatin interaction
ENSG00000197756	Chromatin interaction
ENSG00000102158	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000231742	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000137806	Chromatin interaction
ENSG00000137804	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2918464	1.00[AMR][1000 genomes]
rs2947487	1.00[AMR][1000 genomes]
rs2947490	1.00[AMR][1000 genomes]
rs36124939	1.00[AMR][1000 genomes]
rs55838056	1.00[AMR][1000 genomes]
rs56140669	1.00[AMR][1000 genomes]
rs56687496	1.00[AMR][1000 genomes]
rs58165973	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218403	1.00[AMR][1000 genomes]
rs59034095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59073406	1.00[AMR][1000 genomes]
rs59343255	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59659337	1.00[AMR][1000 genomes]
rs59850482	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602493	1.00[AMR][1000 genomes]
rs692377	1.00[AMR][1000 genomes]
rs7168916	1.00[AMR][1000 genomes]
rs7172892	1.00[AMR][1000 genomes]
rs74012258	1.00[AMR][1000 genomes]
rs74012259	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012264	1.00[AMR][1000 genomes]
rs8025218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8032010	1.00[AMR][1000 genomes]
rs8032335	1.00[AMR][1000 genomes]
rs8035341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038086	1.00[AMR][1000 genomes]
rs8038185	1.00[AMR][1000 genomes]
rs8041170	1.00[AMR][1000 genomes]
rs9745301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045455	chr15:41536624-41620534	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41564200-41576200	Weak transcription	Small Intestine	intestine
2	chr15:41572000-41576200	Weak transcription	Spleen	Spleen
3	chr15:41572600-41576000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41572600-41576200	Weak transcription	Gastric	stomach
5	chr15:41573000-41576200	Weak transcription	Lung	lung
6	chr15:41574400-41576200	Weak transcription	NHLF	lung
7	chr15:41575200-41576000	Flanking Active TSS	K562	blood
8	chr15:41575200-41576200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:41575200-41577200	Active TSS	Brain Substantia Nigra	brain
10	chr15:41575200-41577800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:41575400-41576000	Flanking Active TSS	Dnd41	blood
12	chr15:41575400-41576000	Flanking Active TSS	Hela-S3	cervix
13	chr15:41575400-41576200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr15:41575400-41576400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:41575400-41576800	Active TSS	Primary T cells from cord blood	blood
16	chr15:41575400-41577000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:41575400-41577000	Active TSS	Rectal Smooth Muscle	rectum
18	chr15:41575400-41577200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:41575400-41577200	Active TSS	Brain Anterior Caudate	brain
20	chr15:41575400-41577400	Active TSS	Brain Angular Gyrus	brain
21	chr15:41575400-41577400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:41575400-41577400	Active TSS	Fetal Stomach	stomach
23	chr15:41575400-41577400	Active TSS	HSMM	muscle
24	chr15:41575400-41577600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr15:41575400-41577600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:41575400-41577600	Active TSS	Brain Hippocampus Middle	brain
27	chr15:41575400-41577600	Active TSS	Psoas Muscle	Psoas
28	chr15:41575400-41577600	Active TSS	Stomach Smooth Muscle	stomach
29	chr15:41575400-41577800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:41575400-41577800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:41575400-41578400	Active TSS	Fetal Brain Female	brain
32	chr15:41575600-41576000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:41575600-41576000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:41575600-41576000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr15:41575600-41576000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr15:41575600-41576000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr15:41575600-41576000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr15:41575600-41576000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr15:41575600-41576000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:41575600-41576000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:41575600-41576000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr15:41575600-41576000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr15:41575600-41576000	Flanking Active TSS	Liver	Liver
44	chr15:41575600-41576000	Flanking Active TSS	Fetal Thymus	thymus
45	chr15:41575600-41576000	Flanking Active TSS	HepG2	liver
46	chr15:41575600-41576200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:41575600-41576800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:41575600-41576800	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr15:41575600-41577000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:41575600-41577000	Active TSS	Rectal Mucosa Donor 29	rectum

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