Variant report

Variant	rs568453975
Chromosome Location	chr15:75494102-75494103
allele	G/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	BHLHE40	chr15:75493918-75495405	HepG2	liver:	n/a	chr15:75494555-75494571 chr15:75494803-75494819 chr15:75495184-75495200
2	ELF1	chr15:75492615-75496148	GM12878	blood:	n/a	chr15:75494140-75494152 chr15:75495499-75495512 chr15:75494019-75494031 chr15:75493189-75493202 chr15:75495186-75495195 chr15:75495209-75495220 chr15:75494372-75494384 chr15:75493163-75493175 chr15:75493191-75493202 chr15:75495210-75495219
3	POLR2A	chr15:75493768-75495303	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
5	E2F4	chr15:75493971-75494687	K562	blood:	n/a	chr15:75494554-75494564 chr15:75494289-75494301 chr15:75494372-75494382 chr15:75494420-75494429
6	ELF1	chr15:75493927-75494704	K562	blood:	n/a	chr15:75494140-75494152 chr15:75494019-75494031 chr15:75494372-75494384
7	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
8	JUND	chr15:75493817-75495328	K562	blood:	n/a	chr15:75494561-75494570
9	POLR2A	chr15:75493984-75494650	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr15:75493803-75495302	A549	lung:	n/a	chr15:75494143-75494152 chr15:75495008-75495017 chr15:75494141-75494153 chr15:75494141-75494153
11	POLR2A	chr15:75493875-75495325	HUVEC	blood vessel:	n/a	n/a
12	CHD2	chr15:75493912-75495387	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr15:75494074-75494665	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:75493898-75494546	K562	blood:	n/a	n/a
15	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr15:75493199-75494104	Hela-S3	cervix:	n/a	n/a
18	NR2F2	chr15:75493632-75495397	MCF-7	breast:	n/a	n/a
19	PML	chr15:75494012-75494481	GM12878	blood:	n/a	n/a
20	MAX	chr15:75493804-75495477	SK-N-SH	brain:	n/a	chr15:75494093-75494102
21	POLR2A	chr15:75493825-75494133	GM12891	blood:	n/a	n/a
22	BCL3	chr15:75493411-75494857	A549	lung:	n/a	chr15:75494450-75494463 chr15:75494235-75494244 chr15:75494227-75494240 chr15:75494062-75494070 chr15:75494367-75494380 chr15:75494109-75494122 chr15:75494799-75494812 chr15:75494230-75494243 chr15:75494063-75494076 chr15:75494540-75494553 chr15:75494372-75494381
23	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
24	POLR2A	chr15:75493868-75494474	HCT-116	colon:	n/a	n/a
25	POLR2A	chr15:75493847-75495406	GM10847	blood:	n/a	n/a
26	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
27	ESR1	chr15:75493721-75494120	ECC-1	luminal epithelium:	n/a	n/a
28	TBL1XR1	chr15:75493943-75494538	K562	blood:	n/a	n/a
29	POLR2A	chr15:75493877-75495478	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:75493865-75494563	PANC-1	pancreas:	n/a	n/a
31	TEAD4	chr15:75493763-75494203	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr15:75493892-75494539	HUVEC	blood vessel:	n/a	n/a
33	FOXM1	chr15:75493957-75495379	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:75493771-75494154	SK-N-SH	brain:	n/a	n/a
35	TCF3	chr15:75493982-75494167	GM12878	blood:	n/a	n/a
36	HDAC2	chr15:75493644-75495394	MCF-7	breast:	n/a	n/a
37	HEY1	chr15:75493840-75494701	K562	blood:	n/a	chr15:75494106-75494121
38	TAF1	chr15:75493873-75494737	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr15:75494097-75495322	ECC-1	luminal epithelium:	n/a	chr15:75494107-75494118 chr15:75494469-75494483 chr15:75494584-75494595 chr15:75494237-75494251 chr15:75495011-75495025 chr15:75495141-75495150 chr15:75495183-75495192
40	E2F6	chr15:75493862-75495763	K562	blood:	n/a	chr15:75494554-75494564 chr15:75494289-75494301 chr15:75494372-75494382 chr15:75495234-75495244 chr15:75494420-75494429
41	HDAC2	chr15:75493857-75494125	K562	blood:	n/a	n/a
42	PML	chr15:75493759-75494579	MCF-7	breast:	n/a	n/a
43	POLR2A	chr15:75493470-75494149	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:75494059-75494520	SK-N-MC	brain:	n/a	n/a
45	PAX5	chr15:75493663-75494678	GM12878	blood:	n/a	chr15:75494027-75494046 chr15:75494025-75494052 chr15:75494029-75494048
46	POLR2A	chr15:75493891-75494153	HepG2	liver:	n/a	n/a
47	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr15:75493885-75494528	U87	brain:	n/a	n/a
49	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
50	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75494077-75494127	HMEC	breast:	n/a
2	chr15:75494066-75494116	BJ	skin:	n/a
3	chr15:75494066-75494116	MCF10A-Er-Src	breast:	n/a
4	chr15:75494066-75494116	SK-N-MC	brain:	n/a
5	chr15:75494077-75494127	BJ	skin:	n/a
6	chr15:75494077-75494127	SK-N-SH	brain:	n/a
7	chr15:75494077-75494127	PANC-1	pancreas:	n/a
8	chr15:75494066-75494116	SAEC	small airway:	n/a
9	chr15:75494066-75494116	LNCaP	prostate:	n/a
10	chr15:75494077-75494127	Hela-S3	cervix:	n/a
11	chr15:75494066-75494116	NH-A	brain:	n/a
12	chr15:75494066-75494116	IMR90	lung:	fetal
13	chr15:75494077-75494127	A549	lung:	n/a
14	chr15:75494066-75494116	H1-hESC	embryonic stem cell:	embryo
15	chr15:75494066-75494116	HCT-116	colon:	n/a
16	chr15:75494066-75494116	HMEC	breast:	n/a
17	chr15:75494077-75494127	Caco-2	colon:	n/a
18	chr15:75494066-75494116	HUVEC	blood vessel:	n/a
19	chr15:75494066-75494116	SKMC	muscle:	n/a
20	chr15:75494077-75494127	HNPCEpiC	eye:	n/a
21	chr15:75494077-75494127	HCPEpiC	choroid plexus:	n/a
22	chr15:75494066-75494116	HepG2	liver:	n/a
23	chr15:75494066-75494116	HRE	kidney:	n/a
24	chr15:75494066-75494116	GM12891	blood:	n/a
25	chr15:75494077-75494127	MCF-7	breast:	n/a
26	chr15:75494077-75494127	NH-A	brain:	n/a
27	chr15:75494066-75494116	HIPEpiC	eye:	n/a
28	chr15:75494066-75494116	HCM	heart:	n/a
29	chr15:75494077-75494127	CMK	blood:	n/a
30	chr15:75494077-75494127	HEK293	kidney:	embryo
31	chr15:75494066-75494116	T-47D	breast:	n/a
32	chr15:75494066-75494116	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:75494077-75494127	ECC-1	luminal epithelium:	n/a
34	chr15:75494077-75494127	HL-60	blood:	n/a
35	chr15:75494066-75494116	AG09309	skin:	n/a
36	chr15:75494066-75494116	NHDF-neo	bronchial:	n/a
37	chr15:75494066-75494116	SK-N-SH_RA	brain:	n/a
38	chr15:75494066-75494116	CMK	blood:	n/a
39	chr15:75494077-75494127	K562	blood:	n/a
40	chr15:75494077-75494127	T-47D	breast:	n/a
41	chr15:75494066-75494116	SK-N-SH	brain:	n/a
42	chr15:75494077-75494127	GM12892	blood:	n/a
43	chr15:75494077-75494127	AG04449	skin:	fetal
44	chr15:75494077-75494127	AoSMC	blood vessel:	n/a
45	chr15:75494077-75494127	GM12878	blood:	n/a
46	chr15:75494077-75494127	HEEpiC	esophagus:	n/a
47	chr15:75494066-75494116	Hepatocyte	liver:	n/a
48	chr15:75494066-75494116	GM12878	blood:	n/a
49	chr15:75494077-75494127	ProgFib	skin:	n/a
50	chr15:75494077-75494127	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75493782..75494704-chr7:99686361..99687060,2	HCT-116	colon:
2	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
3	chr15:75493870..75496515-chr15:75627756..75630428,2	K562	blood:
4	chr15:75335299..75336533-chr15:75494000..75494818,4	K562	blood:
5	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
6	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
7	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
8	chr15:75334933..75335774-chr15:75493965..75494927,3	MCF-7	breast:
9	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
10	chr1:228296537..228297467-chr15:75493986..75494523,2	Hela-S3	cervix:
11	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
12	chr15:75405088..75407275-chr15:75491436..75494556,3	MCF-7	breast:
13	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
14	chr11:746943..747698-chr15:75493994..75494509,2	NB4	blood:
15	chr11:93474223..93474807-chr15:75493674..75494425,2	Hela-S3	cervix:
16	chr15:75334824..75335770-chr15:75494095..75494948,2	Hela-S3	cervix:
17	chr15:75493511..75494496-chr5:108084246..108084833,2	Hela-S3	cervix:
18	chr15:75494081..75494765-chr6:26216536..26217185,2	Hela-S3	cervix:
19	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
20	chr1:45285439..45286092-chr15:75493542..75494533,2	HCT-116	colon:
21	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
22	chr15:75494073..75494672-chr20:60757477..60758442,2	Hela-S3	cervix:
23	chr12:120554154..120554853-chr15:75493750..75494389,2	MCF-7	breast:
24	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
25	chr10:99205832..99206393-chr15:75493784..75494431,2	Hela-S3	cervix:
26	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
27	chr15:75493996..75494506-chr17:73775369..73776016,2	Hela-S3	cervix:
28	chr15:75494031..75494716-chr6:146285371..146286217,2	Hela-S3	cervix:
29	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
30	chr15:75335261..75336225-chr15:75493661..75494947,6	MCF-7	breast:
31	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
32	chr15:75494063..75494759-chr19:11200821..11201384,2	Hela-S3	cervix:
33	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
C15orf39	CpG island
ENSG00000260152	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000168090	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000240366	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000101181	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000177156	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000202444	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription 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	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3422174	chr15:75492924-75495772	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
8	nsv904384	chr15:75493823-75520378	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 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	chr15:75492600-75494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr15:75492600-75494200	Flanking Active TSS	NHEK	skin
3	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:75493200-75494200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr15:75493600-75494200	Flanking Active TSS	Liver	Liver
8	chr15:75493600-75495400	Active TSS	Osteobl	bone
9	chr15:75493600-75496000	Active TSS	Aorta	Aorta
10	chr15:75493600-75496000	Active TSS	Lung	lung
11	chr15:75493600-75496000	Active TSS	Small Intestine	intestine
12	chr15:75493600-75496200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:75493600-75496400	Active TSS	Ovary	ovary
14	chr15:75493600-75496600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:75493600-75496600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:75493800-75494600	Active TSS	Brain Hippocampus Middle	brain
17	chr15:75493800-75495000	Active TSS	Colonic Mucosa	Colon
18	chr15:75493800-75495400	Active TSS	Left Ventricle	heart
19	chr15:75493800-75495400	Active TSS	Right Ventricle	heart
20	chr15:75493800-75495600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:75493800-75495600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:75493800-75495600	Active TSS	Rectal Smooth Muscle	rectum
23	chr15:75493800-75495600	Active TSS	Right Atrium	heart
24	chr15:75493800-75495600	Active TSS	NHDF-Ad	bronchial
25	chr15:75493800-75495800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:75493800-75495800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:75493800-75495800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr15:75493800-75495800	Active TSS	Gastric	stomach
29	chr15:75493800-75496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:75493800-75496000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr15:75493800-75496200	Bivalent/Poised TSS	HepG2	liver
32	chr15:75493800-75496400	Active TSS	Psoas Muscle	Psoas
33	chr15:75494000-75494200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:75494000-75494200	Active TSS	Fetal Heart	heart
35	chr15:75494000-75494200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr15:75494000-75494200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr15:75494000-75494400	Active TSS	Primary B cells from cord blood	blood
38	chr15:75494000-75494400	Active TSS	Primary hematopoietic stem cells	blood
39	chr15:75494000-75494600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:75494000-75494600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:75494000-75494600	Active TSS	Primary B cells from peripheral blood	blood
42	chr15:75494000-75494600	Active TSS	Primary T cells fromperipheralblood	blood
43	chr15:75494000-75494600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr15:75494000-75494600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:75494000-75494600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:75494000-75494600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:75494000-75494600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:75494000-75494600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr15:75494000-75494600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:75494000-75494600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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