Variant report

Variant	rs541137348
Chromosome Location	chr15:75494578-75494579
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	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	CTCF	chr15:75494440-75494590	AG09319	gingival:	n/a	n/a
4	MAX	chr15:75494176-75495362	K562	blood:	n/a	n/a
5	POLR2A	chr15:75493768-75495303	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
7	CTCF	chr15:75494440-75494590	BJ	skin:	n/a	n/a
8	E2F4	chr15:75493971-75494687	K562	blood:	n/a	chr15:75494554-75494564 chr15:75494289-75494301 chr15:75494372-75494382 chr15:75494420-75494429
9	ELF1	chr15:75493927-75494704	K562	blood:	n/a	chr15:75494140-75494152 chr15:75494019-75494031 chr15:75494372-75494384
10	CTCF	chr15:75494460-75494610	GM06990	blood:	n/a	n/a
11	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
12	JUND	chr15:75493817-75495328	K562	blood:	n/a	chr15:75494561-75494570
13	POLR2A	chr15:75493984-75494650	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr15:75493803-75495302	A549	lung:	n/a	chr15:75494143-75494152 chr15:75495008-75495017 chr15:75494141-75494153 chr15:75494141-75494153
15	CTCF	chr15:75494361-75494590	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr15:75493875-75495325	HUVEC	blood vessel:	n/a	n/a
17	ETS1	chr15:75494209-75494896	K562	blood:	n/a	n/a
18	CHD2	chr15:75493912-75495387	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr15:75494188-75495365	H1-hESC	embryonic stem cell:	n/a	chr15:75494800-75494810 chr15:75494777-75494789 chr15:75494541-75494555
20	GABPA	chr15:75494405-75494721	H1-hESC	embryonic stem cell:	n/a	chr15:75494447-75494456 chr15:75494420-75494429
21	CTCF	chr15:75494440-75494590	HCFaa	heart:	n/a	n/a
22	TAF1	chr15:75494074-75494665	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr15:75494359-75494597	HepG2	liver:	n/a	chr15:75494464-75494471
24	CTCF	chr15:75494460-75494610	HUVEC	blood vessel:	n/a	n/a
25	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr15:75494383-75494637	MCF-7	breast:	n/a	n/a
28	TEAD4	chr15:75494549-75495246	ECC-1	luminal epithelium:	n/a	n/a
29	NR2F2	chr15:75493632-75495397	MCF-7	breast:	n/a	n/a
30	MAX	chr15:75493804-75495477	SK-N-SH	brain:	n/a	chr15:75494093-75494102
31	CTCF	chr15:75494341-75494619	SK-N-SH_RA	brain:	n/a	n/a
32	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
33	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
34	STAT5A	chr15:75494164-75494988	GM12878	blood:	n/a	n/a
35	MYC	chr15:75494202-75494607	HepG2	liver:	n/a	n/a
36	ZBTB7A	chr15:75494269-75495762	ECC-1	luminal epithelium:	n/a	chr15:75494779-75494788 chr15:75494464-75494471
37	POLR2A	chr15:75493847-75495406	GM10847	blood:	n/a	n/a
38	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
39	CTCF	chr15:75494428-75494604	HepG2	liver:	n/a	n/a
40	ZBTB7A	chr15:75494298-75494958	K562	blood:	n/a	chr15:75494779-75494788 chr15:75494464-75494471
41	POLR2A	chr15:75493877-75495478	GM12878	blood:	n/a	n/a
42	FOXM1	chr15:75493957-75495379	GM12878	blood:	n/a	n/a
43	MYC	chr15:75494344-75494676	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr15:75494165-75495412	GM12878	blood:	n/a	chr15:75494469-75494483 chr15:75494584-75494595 chr15:75494237-75494251 chr15:75495011-75495025 chr15:75495141-75495150 chr15:75495183-75495192
45	HDAC2	chr15:75493644-75495394	MCF-7	breast:	n/a	n/a
46	HEY1	chr15:75493840-75494701	K562	blood:	n/a	chr15:75494106-75494121
47	CTCF	chr15:75494440-75494590	GM12865	blood:	n/a	n/a
48	TAF1	chr15:75493873-75494737	H1-hESC	embryonic stem cell:	n/a	n/a
49	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
50	CTCF	chr15:75494243-75494656	Lung_OC	lung:	n/a	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	chr15:75494161..75494665-chr17:7387268..7388126,2	Hela-S3	cervix:
6	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
7	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
8	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
9	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:
10	chr15:75334933..75335774-chr15:75493965..75494927,3	MCF-7	breast:
11	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
12	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
13	chr15:75249199..75251809-chr15:75494359..75496397,2	K562	blood:
14	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
15	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
16	chr15:75494265..75494910-chr20:33103340..33104322,2	Hela-S3	cervix:
17	chr15:75334824..75335770-chr15:75494095..75494948,2	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	chr15:75494141..75494785-chr19:10397247..10397835,2	NB4	blood:
21	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
22	chr15:75494073..75494672-chr20:60757477..60758442,2	Hela-S3	cervix:
23	chr15:75411616..75414340-chr15:75494203..75495704,2	MCF-7	breast:
24	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
25	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
26	chr15:75494031..75494716-chr6:146285371..146286217,2	Hela-S3	cervix:
27	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
28	chr15:75335261..75336225-chr15:75493661..75494947,6	MCF-7	breast:
29	chr15:75494063..75494759-chr19:11200821..11201384,2	Hela-S3	cervix:
30	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000179335	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000101181	Chromatin interaction
ENSG00000168090	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000240366	Chromatin interaction
ENSG00000252722	Chromatin interaction
ENSG00000105371	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000125971	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000140365	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	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:75493600-75495400	Active TSS	Osteobl	bone
5	chr15:75493600-75496000	Active TSS	Aorta	Aorta
6	chr15:75493600-75496000	Active TSS	Lung	lung
7	chr15:75493600-75496000	Active TSS	Small Intestine	intestine
8	chr15:75493600-75496200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:75493600-75496400	Active TSS	Ovary	ovary
10	chr15:75493600-75496600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:75493600-75496600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:75493800-75494600	Active TSS	Brain Hippocampus Middle	brain
13	chr15:75493800-75495000	Active TSS	Colonic Mucosa	Colon
14	chr15:75493800-75495400	Active TSS	Left Ventricle	heart
15	chr15:75493800-75495400	Active TSS	Right Ventricle	heart
16	chr15:75493800-75495600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:75493800-75495600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:75493800-75495600	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:75493800-75495600	Active TSS	Right Atrium	heart
20	chr15:75493800-75495600	Active TSS	NHDF-Ad	bronchial
21	chr15:75493800-75495800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:75493800-75495800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:75493800-75495800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr15:75493800-75495800	Active TSS	Gastric	stomach
25	chr15:75493800-75496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:75493800-75496000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr15:75493800-75496200	Bivalent/Poised TSS	HepG2	liver
28	chr15:75493800-75496400	Active TSS	Psoas Muscle	Psoas
29	chr15:75494000-75494600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:75494000-75494600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:75494000-75494600	Active TSS	Primary B cells from peripheral blood	blood
32	chr15:75494000-75494600	Active TSS	Primary T cells fromperipheralblood	blood
33	chr15:75494000-75494600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr15:75494000-75494600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:75494000-75494600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:75494000-75494600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:75494000-75494600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:75494000-75494600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr15:75494000-75494600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:75494000-75494600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:75494000-75494600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:75494000-75494600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
43	chr15:75494000-75494600	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr15:75494000-75494600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr15:75494000-75494600	Active TSS	Fetal Muscle Leg	muscle
46	chr15:75494000-75494800	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr15:75494000-75494800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:75494000-75494800	Active TSS	Stomach Smooth Muscle	stomach
49	chr15:75494000-75495000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:75494000-75495000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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