Variant report

Variant	rs375140727
Chromosome Location	chr15:75493059-75493060
allele	C/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	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	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
3	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
4	SPI1	chr15:75492920-75493473	HL-60	blood:	n/a	chr15:75493191-75493200 chr15:75493190-75493203 chr15:75493402-75493415 chr15:75493189-75493202 chr15:75493192-75493199 chr15:75493190-75493203
5	CREB1	chr15:75492940-75493492	HepG2	liver:	n/a	n/a
6	TEAD4	chr15:75492986-75494085	K562	blood:	n/a	n/a
7	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr15:75493046-75493341	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
10	EGR1	chr15:75492798-75493561	HCT-116	colon:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
11	POLR2A	chr15:75492653-75493781	GM12878	blood:	n/a	n/a
12	RCOR1	chr15:75493046-75493438	K562	blood:	n/a	n/a
13	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
15	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
16	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
17	GABPA	chr15:75492816-75493508	MCF-7	breast:	n/a	n/a
18	ZNF143	chr15:75493013-75493214	H1-hESC	embryonic stem cell:	n/a	n/a
19	SMARCC1	chr15:75492612-75494097	Hela-S3	cervix:	n/a	n/a
20	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
21	POLR2A	chr15:75492939-75493432	HCT-116	colon:	n/a	n/a
22	TCF12	chr15:75493008-75496156	A549	lung:	n/a	chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
23	TCF12	chr15:75492891-75495553	ECC-1	luminal epithelium:	n/a	chr15:75492906-75492916 chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
24	POLR2A	chr15:75492753-75495273	ECC-1	luminal epithelium:	n/a	n/a
25	FOS	chr15:75492975-75493393	MCF10A-Er-Src	breast:	n/a	chr15:75493171-75493180 chr15:75493291-75493302
26	SMC3	chr15:75492813-75495936	Hela-S3	cervix:	n/a	chr15:75494800-75494810
27	POLR2A	chr15:75492560-75493801	GM12878	blood:	n/a	n/a
28	ELF1	chr15:75492988-75493519	HepG2	liver:	n/a	chr15:75493189-75493202 chr15:75493163-75493175 chr15:75493191-75493202
29	ZEB1	chr15:75492954-75494012	GM12878	blood:	n/a	chr15:75493396-75493407 chr15:75493396-75493407
30	MYC	chr15:75492916-75495370	Hela-S3	cervix:	n/a	chr15:75494093-75494102
31	MAX	chr15:75492971-75495582	HepG2	liver:	n/a	chr15:75494093-75494102
32	CREB1	chr15:75492886-75493486	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr15:75492986-75495484	Hela-S3	cervix:	n/a	chr15:75494093-75494102
34	RAD21	chr15:75492931-75495328	Hela-S3	cervix:	n/a	chr15:75494800-75494810 chr15:75494117-75494130 chr15:75494777-75494789 chr15:75494541-75494555 chr15:75493268-75493282
35	TCF12	chr15:75493033-75493526	GM12878	blood:	n/a	chr15:75493235-75493245 chr15:75493370-75493380
36	EGR1	chr15:75493025-75493313	GM12878	blood:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
37	POLR2A	chr15:75493008-75495954	HL-60	blood:	n/a	n/a
38	POLR2A	chr15:75492945-75496396	GM12892	blood:	n/a	n/a
39	EGR1	chr15:75492720-75493784	HCT-116	colon:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
40	FOS	chr15:75492939-75493455	MCF10A-Er-Src	breast:	n/a	chr15:75493171-75493180 chr15:75493291-75493302
41	STAT3	chr15:75492970-75493575	MCF10A-Er-Src	breast:	n/a	chr15:75493377-75493389 chr15:75493549-75493557 chr15:75493256-75493270
42	GABPA	chr15:75493022-75493310	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr15:75492953-75493350	K562	blood:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
44	SIN3AK20	chr15:75492931-75495551	HCT-116	colon:	n/a	n/a
45	EP300	chr15:75493030-75493204	GM12878	blood:	n/a	chr15:75493187-75493201 chr15:75493191-75493200
46	ZEB1	chr15:75492840-75494158	HepG2	liver:	n/a	chr15:75493396-75493407 chr15:75493396-75493407
47	HDAC2	chr15:75493050-75493295	K562	blood:	n/a	n/a
48	SIN3A	chr15:75493017-75495629	H1-hESC	embryonic stem cell:	n/a	chr15:75494390-75494401 chr15:75493211-75493222 chr15:75494228-75494239 chr15:75494063-75494072 chr15:75494475-75494488 chr15:75493230-75493239 chr15:75494810-75494819
49	NFIC	chr15:75492909-75493412	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:75492219-75497525	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	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
11	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
12	chr15:75486189..75488237-chr15:75491823..75494086,2	MCF-7	breast:
13	chr15:75490684..75493339-chr15:75497415..75499804,2	K562	blood:
14	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
15	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
16	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
17	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
18	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000260152	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000240366	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000260483	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75487800-75493200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:75488000-75493200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:75488200-75493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:75488400-75493200	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:75488600-75493400	Weak transcription	Ovary	ovary
6	chr15:75489800-75493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:75490400-75493200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:75490600-75493200	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:75490600-75493200	Flanking Active TSS	HepG2	liver
10	chr15:75490800-75493200	Enhancers	Thymus	Thymus
11	chr15:75490800-75493200	Enhancers	K562	blood
12	chr15:75491000-75493400	Weak transcription	Brain Anterior Caudate	brain
13	chr15:75491200-75493200	Enhancers	Primary T cells from cord blood	blood
14	chr15:75491200-75493200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr15:75491200-75493600	Enhancers	Lung	lung
16	chr15:75491200-75494000	Flanking Active TSS	GM12878-XiMat	blood
17	chr15:75491200-75494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr15:75491400-75493400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:75491600-75493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:75491600-75493200	Enhancers	Adipose Nuclei	Adipose
21	chr15:75491600-75493200	Weak transcription	Liver	Liver
22	chr15:75491600-75493200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:75491800-75493200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr15:75491800-75493400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:75491800-75493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:75492000-75493200	Enhancers	Primary B cells from cord blood	blood
27	chr15:75492000-75493200	Enhancers	Fetal Thymus	thymus
28	chr15:75492000-75493400	Enhancers	Brain Hippocampus Middle	brain
29	chr15:75492000-75493400	Enhancers	Dnd41	blood
30	chr15:75492000-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:75492200-75493200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:75492200-75493200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:75492200-75493200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr15:75492200-75493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:75492200-75493400	Enhancers	Right Ventricle	heart
36	chr15:75492200-75493600	Enhancers	Left Ventricle	heart
37	chr15:75492200-75494000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr15:75492400-75493200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:75492400-75493200	Enhancers	Fetal Heart	heart
40	chr15:75492400-75493200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr15:75492400-75493400	Enhancers	Stomach Smooth Muscle	stomach
42	chr15:75492400-75493600	Enhancers	Right Atrium	heart
43	chr15:75492400-75494000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr15:75492400-75494000	Flanking Active TSS	Hela-S3	cervix
45	chr15:75492600-75493200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:75492600-75493200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr15:75492600-75493200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr15:75492600-75493200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr15:75492600-75493200	Active TSS	Rectal Smooth Muscle	rectum
50	chr15:75492600-75493200	Enhancers	Sigmoid Colon	Sigmoid Colon

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