Variant report

Variant	rs369389549
Chromosome Location	chr15:75493907-75493908
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	JUND	chr15:75493817-75495328	K562	blood:	n/a	chr15:75494561-75494570
6	SP1	chr15:75493803-75495302	A549	lung:	n/a	chr15:75494143-75494152 chr15:75495008-75495017 chr15:75494141-75494153 chr15:75494141-75494153
7	POLR2A	chr15:75493875-75495325	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr15:75493898-75494546	K562	blood:	n/a	n/a
9	TEAD4	chr15:75492986-75494085	K562	blood:	n/a	n/a
10	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr15:75493199-75494104	Hela-S3	cervix:	n/a	n/a
13	NR2F2	chr15:75493632-75495397	MCF-7	breast:	n/a	n/a
14	MAX	chr15:75493804-75495477	SK-N-SH	brain:	n/a	chr15:75494093-75494102
15	POLR2A	chr15:75493825-75494133	GM12891	blood:	n/a	n/a
16	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
17	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
18	POLR2A	chr15:75493868-75494474	HCT-116	colon:	n/a	n/a
19	POLR2A	chr15:75493847-75495406	GM10847	blood:	n/a	n/a
20	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
21	ESR1	chr15:75493721-75494120	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr15:75493813-75493918	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:75493877-75495478	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:75493865-75494563	PANC-1	pancreas:	n/a	n/a
25	TEAD4	chr15:75493763-75494203	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr15:75493892-75494539	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr15:75493771-75494154	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr15:75493720-75493990	NHDF-neo	bronchial:	n/a	n/a
29	HDAC2	chr15:75493644-75495394	MCF-7	breast:	n/a	n/a
30	HEY1	chr15:75493840-75494701	K562	blood:	n/a	chr15:75494106-75494121
31	TAF1	chr15:75493873-75494737	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr15:75493780-75493930	GM12871	blood:	n/a	n/a
33	E2F6	chr15:75493862-75495763	K562	blood:	n/a	chr15:75494554-75494564 chr15:75494289-75494301 chr15:75494372-75494382 chr15:75495234-75495244 chr15:75494420-75494429
34	HDAC2	chr15:75493857-75494125	K562	blood:	n/a	n/a
35	PML	chr15:75493759-75494579	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:75493470-75494149	GM12891	blood:	n/a	n/a
37	PAX5	chr15:75493663-75494678	GM12878	blood:	n/a	chr15:75494027-75494046 chr15:75494025-75494052 chr15:75494029-75494048
38	POLR2A	chr15:75493891-75494153	HepG2	liver:	n/a	n/a
39	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:75493885-75494528	U87	brain:	n/a	n/a
41	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
42	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
43	POLR2A	chr15:75493839-75494479	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:75493810-75494151	HepG2	liver:	n/a	n/a
45	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
46	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
47	HDAC2	chr15:75493873-75494646	HepG2	liver:	n/a	n/a
48	SMARCC1	chr15:75492612-75494097	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:75493886-75496356	HUVEC	blood vessel:	n/a	n/a
50	PAX5	chr15:75493840-75494170	GM12891	blood:	n/a	chr15:75494027-75494046 chr15:75494025-75494052 chr15:75494029-75494048

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75493871-75493921	GM06990	blood:	n/a
2	chr15:75493871-75493921	Hepatocyte	liver:	n/a
3	chr15:75493871-75493921	HEEpiC	esophagus:	n/a
4	chr15:75493871-75493921	HEK293	kidney:	embryo
5	chr15:75493871-75493921	LNCaP	prostate:	n/a
6	chr15:75493871-75493921	HRE	kidney:	n/a
7	chr15:75493871-75493921	Hela-S3	cervix:	n/a
8	chr15:75493871-75493921	K562	blood:	n/a
9	chr15:75493871-75493921	MCF10A-Er-Src	breast:	n/a
10	chr15:75493871-75493921	HCPEpiC	choroid plexus:	n/a
11	chr15:75493871-75493921	NHDF-neo	bronchial:	n/a
12	chr15:75493871-75493921	SK-N-SH	brain:	n/a
13	chr15:75493871-75493921	H1-hESC	embryonic stem cell:	embryo
14	chr15:75493871-75493921	NT2-D1	testis:	n/a
15	chr15:75493871-75493921	AG09319	gingival:	n/a
16	chr15:75493871-75493921	HIPEpiC	eye:	n/a
17	chr15:75493871-75493921	BE2_C	brain:	n/a
18	chr15:75493871-75493921	GM12891	blood:	n/a
19	chr15:75493871-75493921	ovcar-3	ovarian:	n/a
20	chr15:75493871-75493921	AG09309	skin:	n/a
21	chr15:75493871-75493921	NHBE	bronchial:	n/a
22	chr15:75493871-75493921	BJ	skin:	n/a
23	chr15:75493871-75493921	PANC-1	pancreas:	n/a
24	chr15:75493871-75493921	SAEC	small airway:	n/a
25	chr15:75493871-75493921	SK-N-SH_RA	brain:	n/a
26	chr15:75493871-75493921	HRPEpiC	eye:	n/a
27	chr15:75493871-75493921	RPTEC	kidney:	n/a
28	chr15:75493871-75493921	NH-A	brain:	n/a
29	chr15:75493871-75493921	AG04450	lung:	fetal
30	chr15:75493871-75493921	PFSK-1	brain:	n/a
31	chr15:75493871-75493921	SKMC	muscle:	n/a
32	chr15:75493871-75493921	ProgFib	skin:	n/a
33	chr15:75493871-75493921	Jurkat	blood:	n/a
34	chr15:75493871-75493921	HL-60	blood:	n/a
35	chr15:75493871-75493921	HAEpiC	amniotic membrane:	n/a
36	chr15:75493871-75493921	GM12892	blood:	n/a
37	chr15:75493871-75493921	NB4	blood:	n/a
38	chr15:75493871-75493921	A549	lung:	n/a
39	chr15:75493871-75493921	HMEC	breast:	n/a
40	chr15:75493871-75493921	HCM	heart:	n/a
41	chr15:75493871-75493921	GM12878	blood:	n/a
42	chr15:75493871-75493921	GM19239	blood:	n/a
43	chr15:75493871-75493921	MCF-7	breast:	n/a
44	chr15:75493871-75493921	HUVEC	blood vessel:	n/a
45	chr15:75493871-75493921	HCF	heart:	n/a
46	chr15:75493871-75493921	CMK	blood:	n/a
47	chr15:75493871-75493921	HCT-116	colon:	n/a
48	chr15:75493871-75493921	ECC-1	luminal epithelium:	n/a
49	chr15:75493871-75493921	U87	brain:	n/a
50	chr15:75493871-75493921	AG04449	skin:	fetal

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	chr15:75470196..75472288-chr15:75492167..75494098,2	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	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
9	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
10	chr15:75405088..75407275-chr15:75491436..75494556,3	MCF-7	breast:
11	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
12	chr11:93474223..93474807-chr15:75493674..75494425,2	Hela-S3	cervix:
13	chr15:75493511..75494496-chr5:108084246..108084833,2	Hela-S3	cervix:
14	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
15	chr1:45285439..45286092-chr15:75493542..75494533,2	HCT-116	colon:
16	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
17	chr15:75486189..75488237-chr15:75491823..75494086,2	MCF-7	breast:
18	chr12:120554154..120554853-chr15:75493750..75494389,2	MCF-7	breast:
19	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
20	chr10:99205832..99206393-chr15:75493784..75494431,2	Hela-S3	cervix:
21	chr15:75321350..75322254-chr15:75493363..75493944,2	MCF-7	breast:
22	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
23	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
24	chr15:75335261..75336225-chr15:75493661..75494947,6	MCF-7	breast:
25	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
26	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
C15orf39	CpG island
ENSG00000166012	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000240366	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000260152	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000168090	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000260483	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:127 , 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	chr15:75492600-75494000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:75492600-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr15:75492600-75494000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr15:75492600-75494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr15:75492600-75494200	Flanking Active TSS	NHEK	skin
13	chr15:75492800-75494000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:75492800-75494000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr15:75492800-75494000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:75492800-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:75492800-75494000	Flanking Active TSS	Placenta	Placenta
18	chr15:75492800-75494000	Flanking Active TSS	HMEC	breast
19	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:75493000-75494000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr15:75493000-75494000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr15:75493000-75494000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:75493000-75494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:75493200-75494000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr15:75493200-75494000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:75493200-75494000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr15:75493200-75494000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr15:75493200-75494000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr15:75493200-75494000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr15:75493200-75494000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr15:75493200-75494000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr15:75493200-75494000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:75493200-75494000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr15:75493200-75494000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:75493200-75494000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr15:75493200-75494000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:75493200-75494000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:75493200-75494000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr15:75493200-75494000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:75493200-75494000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:75493200-75494000	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr15:75493200-75494000	Flanking Active TSS	Esophagus	oesophagus
45	chr15:75493200-75494000	Flanking Active TSS	Fetal Heart	heart
46	chr15:75493200-75494000	Flanking Active TSS	Fetal Thymus	thymus
47	chr15:75493200-75494000	Flanking Active TSS	Pancreas	Pancrea
48	chr15:75493200-75494000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr15:75493200-75494000	Flanking Active TSS	Stomach Mucosa	stomach
50	chr15:75493200-75494000	Flanking Active TSS	Thymus	Thymus

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