Variant report

Variant	rs563802492
Chromosome Location	chr15:75493775-75493776
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	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
2	POLR2A	chr15:75493768-75495303	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
4	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
5	CTCF	chr15:75493700-75493850	NHDF-neo	bronchial:	n/a	n/a
6	TEAD4	chr15:75492986-75494085	K562	blood:	n/a	n/a
7	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr15:75493199-75494104	Hela-S3	cervix:	n/a	n/a
10	NR2F2	chr15:75493632-75495397	MCF-7	breast:	n/a	n/a
11	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
12	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
13	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
14	ESR1	chr15:75493721-75494120	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr15:75493763-75494203	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr15:75493771-75494154	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr15:75493720-75493990	NHDF-neo	bronchial:	n/a	n/a
18	HDAC2	chr15:75493644-75495394	MCF-7	breast:	n/a	n/a
19	POLR2A	chr15:75492653-75493781	GM12878	blood:	n/a	n/a
20	PML	chr15:75493759-75494579	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:75493470-75494149	GM12891	blood:	n/a	n/a
22	PAX5	chr15:75493663-75494678	GM12878	blood:	n/a	chr15:75494027-75494046 chr15:75494025-75494052 chr15:75494029-75494048
23	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
25	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
26	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
27	EP300	chr15:75492823-75495560	ECC-1	luminal epithelium:	n/a	chr15:75493187-75493201 chr15:75494420-75494429 chr15:75494529-75494545 chr15:75495184-75495193 chr15:75494447-75494456 chr15:75494478-75494494 chr15:75495183-75495192 chr15:75492831-75492840 chr15:75494803-75494812 chr15:75493191-75493200 chr15:75494063-75494079 chr15:75494226-75494242
28	SMARCC1	chr15:75492612-75494097	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr15:75493637-75495376	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr15:75493773-75494809	HUVEC	blood vessel:	n/a	n/a
31	STAT5A	chr15:75492643-75496896	GM12878	blood:	n/a	chr15:75496563-75496577 chr15:75496565-75496574 chr15:75495565-75495576 chr15:75493377-75493389 chr15:75496566-75496575 chr15:75493549-75493557 chr15:75496045-75496057 chr15:75493256-75493270
32	CTCF	chr15:75493640-75493790	GM12867	blood:	n/a	n/a
33	MXI1	chr15:75493278-75495807	GM12878	blood:	n/a	chr15:75493370-75493379
34	POU2F2	chr15:75493073-75495954	GM12878	blood:	n/a	chr15:75493166-75493178 chr15:75495907-75495919
35	PAX5	chr15:75493774-75494314	GM12891	blood:	n/a	chr15:75494029-75494048 chr15:75494027-75494046 chr15:75494025-75494052
36	RAD21	chr15:75493717-75494166	HepG2	liver:	n/a	chr15:75494117-75494130
37	HEY1	chr15:75493744-75494755	HepG2	liver:	n/a	chr15:75494106-75494121
38	ELF1	chr15:75493680-75495606	MCF-7	breast:	n/a	chr15:75494140-75494152 chr15:75495499-75495512 chr15:75494019-75494031 chr15:75495186-75495195 chr15:75495209-75495220 chr15:75494372-75494384 chr15:75495210-75495219
39	SP1	chr15:75493752-75495404	A549	lung:	n/a	chr15:75494143-75494152 chr15:75495008-75495017 chr15:75494141-75494153 chr15:75494141-75494153
40	CTCF	chr15:75493760-75493910	RPTEC	kidney:	n/a	n/a
41	KAP1	chr15:75493682-75493971	U2OS	brain:	n/a	n/a
42	TCF12	chr15:75493008-75496156	A549	lung:	n/a	chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
43	POLR2A	chr15:75493371-75495560	PBDE	blood:	n/a	n/a
44	CTCF	chr15:75493174-75496126	A549	lung:	n/a	chr15:75495837-75495855 chr15:75495839-75495852 chr15:75495188-75495201
45	POLR2A	chr15:75493073-75496869	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr15:75492891-75495553	ECC-1	luminal epithelium:	n/a	chr15:75492906-75492916 chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
47	POLR2A	chr15:75492753-75495273	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr15:75493502-75495491	ECC-1	luminal epithelium:	n/a	chr15:75494093-75494102
49	SMC3	chr15:75492813-75495936	Hela-S3	cervix:	n/a	chr15:75494800-75494810
50	POLR2A	chr15:75492560-75493801	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75470196..75472288-chr15:75492167..75494098,2	K562	blood:
3	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
4	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
5	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
6	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
7	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
8	chr15:75405088..75407275-chr15:75491436..75494556,3	MCF-7	breast:
9	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
10	chr11:93474223..93474807-chr15:75493674..75494425,2	Hela-S3	cervix:
11	chr15:75493511..75494496-chr5:108084246..108084833,2	Hela-S3	cervix:
12	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
13	chr1:45285439..45286092-chr15:75493542..75494533,2	HCT-116	colon:
14	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
15	chr15:75486189..75488237-chr15:75491823..75494086,2	MCF-7	breast:
16	chr12:120554154..120554853-chr15:75493750..75494389,2	MCF-7	breast:
17	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
18	chr15:75321350..75322254-chr15:75493363..75493944,2	MCF-7	breast:
19	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
20	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
21	chr15:75335261..75336225-chr15:75493661..75494947,6	MCF-7	breast:
22	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
23	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000198794	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000240366	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000260152	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000254402	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75491200-75494000	Flanking Active TSS	GM12878-XiMat	blood
2	chr15:75491200-75494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr15:75492200-75494000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr15:75492400-75494000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr15:75492400-75494000	Flanking Active TSS	Hela-S3	cervix
6	chr15:75492600-75493800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:75492600-75493800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:75492600-75494000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:75492600-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr15:75492600-75494000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr15:75492600-75494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr15:75492600-75494200	Flanking Active TSS	NHEK	skin
15	chr15:75492800-75493800	Flanking Active TSS	Colonic Mucosa	Colon
16	chr15:75492800-75494000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:75492800-75494000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr15:75492800-75494000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:75492800-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:75492800-75494000	Flanking Active TSS	Placenta	Placenta
21	chr15:75492800-75494000	Flanking Active TSS	HMEC	breast
22	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:75493000-75493800	Flanking Active TSS	Gastric	stomach
26	chr15:75493000-75494000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr15:75493000-75494000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:75493000-75494000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:75493000-75494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:75493200-75493800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr15:75493200-75493800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr15:75493200-75493800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr15:75493200-75493800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr15:75493200-75493800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr15:75493200-75493800	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr15:75493200-75494000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr15:75493200-75494000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr15:75493200-75494000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr15:75493200-75494000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr15:75493200-75494000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:75493200-75494000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr15:75493200-75494000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr15:75493200-75494000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:75493200-75494000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:75493200-75494000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr15:75493200-75494000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:75493200-75494000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr15:75493200-75494000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:75493200-75494000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr15:75493200-75494000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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