Variant report

Variant	rs181069638
Chromosome Location	chr15:75492982-75492983
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	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
3	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
4	CREB1	chr15:75492940-75493492	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
6	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
7	POLR2A	chr15:75492653-75493781	GM12878	blood:	n/a	n/a
8	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
10	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
11	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
12	GABPA	chr15:75492816-75493508	MCF-7	breast:	n/a	n/a
13	SMARCC1	chr15:75492612-75494097	Hela-S3	cervix:	n/a	n/a
14	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
15	POLR2A	chr15:75492939-75493432	HCT-116	colon:	n/a	n/a
16	TCF12	chr15:75492891-75495553	ECC-1	luminal epithelium:	n/a	chr15:75492906-75492916 chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
17	POLR2A	chr15:75492753-75495273	ECC-1	luminal epithelium:	n/a	n/a
18	FOS	chr15:75492975-75493393	MCF10A-Er-Src	breast:	n/a	chr15:75493171-75493180 chr15:75493291-75493302
19	SMC3	chr15:75492813-75495936	Hela-S3	cervix:	n/a	chr15:75494800-75494810
20	POLR2A	chr15:75492560-75493801	GM12878	blood:	n/a	n/a
21	ZEB1	chr15:75492954-75494012	GM12878	blood:	n/a	chr15:75493396-75493407 chr15:75493396-75493407
22	MYC	chr15:75492916-75495370	Hela-S3	cervix:	n/a	chr15:75494093-75494102
23	MAX	chr15:75492971-75495582	HepG2	liver:	n/a	chr15:75494093-75494102
24	CREB1	chr15:75492886-75493486	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr15:75492931-75495328	Hela-S3	cervix:	n/a	chr15:75494800-75494810 chr15:75494117-75494130 chr15:75494777-75494789 chr15:75494541-75494555 chr15:75493268-75493282
26	POLR2A	chr15:75492945-75496396	GM12892	blood:	n/a	n/a
27	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
28	FOS	chr15:75492939-75493455	MCF10A-Er-Src	breast:	n/a	chr15:75493171-75493180 chr15:75493291-75493302
29	STAT3	chr15:75492970-75493575	MCF10A-Er-Src	breast:	n/a	chr15:75493377-75493389 chr15:75493549-75493557 chr15:75493256-75493270
30	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
31	SIN3AK20	chr15:75492931-75495551	HCT-116	colon:	n/a	n/a
32	ZEB1	chr15:75492840-75494158	HepG2	liver:	n/a	chr15:75493396-75493407 chr15:75493396-75493407
33	NFIC	chr15:75492909-75493412	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:75492219-75497525	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:75492709-75496705	GM18526	blood:	n/a	n/a
36	MTA3	chr15:75490439-75497753	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:75490585-75499135	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:75492942-75494159	HepG2	liver:	n/a	n/a
39	PML	chr15:75492821-75496060	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:75492963-75493450	MCF10A-Er-Src	breast:	n/a	n/a
41	SMARCB1	chr15:75492765-75495873	Hela-S3	cervix:	n/a	n/a
42	EGR1	chr15:75492951-75493443	MCF-7	breast:	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
43	CREB1	chr15:75492899-75493508	GM12878	blood:	n/a	n/a
44	HEY1	chr15:75492980-75493492	HepG2	liver:	n/a	n/a
45	GABPA	chr15:75492854-75493427	H1-hESC	embryonic stem cell:	n/a	n/a
46	EGR1	chr15:75492934-75493301	H1-hESC	embryonic stem cell:	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
47	POLR2A	chr15:75492980-75496226	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr15:75492897-75493509	MCF-7	breast:	n/a	n/a
49	SPI1	chr15:75492732-75493481	GM12878	blood:	n/a	chr15:75493191-75493200 chr15:75493190-75493203 chr15:75493402-75493415 chr15:75493189-75493202 chr15:75493192-75493199 chr15:75493190-75493203
50	RUNX3	chr15:75492773-75493419	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75492982-75493032	AG09309	skin:	n/a
2	chr15:75492982-75493032	PFSK-1	brain:	n/a
3	chr15:75492982-75493032	Hela-S3	cervix:	n/a
4	chr15:75492982-75493032	MCF-7	breast:	n/a
5	chr15:75492982-75493032	HAEpiC	amniotic membrane:	n/a
6	chr15:75492982-75493032	Caco-2	colon:	n/a
7	chr15:75492982-75493032	HL-60	blood:	n/a
8	chr15:75492982-75493032	NHBE	bronchial:	n/a
9	chr15:75492982-75493032	GM12891	blood:	n/a
10	chr15:75492982-75493032	SAEC	small airway:	n/a
11	chr15:75492982-75493032	AoSMC	blood vessel:	n/a
12	chr15:75492982-75493032	BJ	skin:	n/a
13	chr15:75492982-75493032	GM12892	blood:	n/a
14	chr15:75492982-75493032	T-47D	breast:	n/a
15	chr15:75492982-75493032	HCM	heart:	n/a
16	chr15:75492982-75493032	HRE	kidney:	n/a
17	chr15:75492982-75493032	HCPEpiC	choroid plexus:	n/a
18	chr15:75492982-75493032	BE2_C	brain:	n/a
19	chr15:75492982-75493032	HEK293	kidney:	embryo
20	chr15:75492982-75493032	IMR90	lung:	fetal
21	chr15:75492982-75493032	LNCaP	prostate:	n/a
22	chr15:75492982-75493032	SK-N-SH	brain:	n/a
23	chr15:75492982-75493032	HEEpiC	esophagus:	n/a
24	chr15:75492982-75493032	RPTEC	kidney:	n/a
25	chr15:75492982-75493032	HepG2	liver:	n/a
26	chr15:75492982-75493032	HCT-116	colon:	n/a
27	chr15:75492982-75493032	PANC-1	pancreas:	n/a
28	chr15:75492982-75493032	ProgFib	skin:	n/a
29	chr15:75492982-75493032	AG04450	lung:	fetal
30	chr15:75492982-75493032	Jurkat	blood:	n/a
31	chr15:75492982-75493032	NB4	blood:	n/a
32	chr15:75492982-75493032	SK-N-MC	brain:	n/a
33	chr15:75492982-75493032	A549	lung:	n/a
34	chr15:75492982-75493032	CMK	blood:	n/a
35	chr15:75492982-75493032	MCF10A-Er-Src	breast:	n/a
36	chr15:75492982-75493032	H1-hESC	embryonic stem cell:	embryo
37	chr15:75492982-75493032	NH-A	brain:	n/a
38	chr15:75492982-75493032	Hepatocyte	liver:	n/a
39	chr15:75492982-75493032	HNPCEpiC	eye:	n/a
40	chr15:75492982-75493032	GM12878	blood:	n/a
41	chr15:75492982-75493032	HRPEpiC	eye:	n/a
42	chr15:75492982-75493032	SKMC	muscle:	n/a
43	chr15:75492982-75493032	HMEC	breast:	n/a
44	chr15:75492982-75493032	SK-N-SH_RA	brain:	n/a
45	chr15:75492982-75493032	NHDF-neo	bronchial:	n/a
46	chr15:75492982-75493032	ECC-1	luminal epithelium:	n/a
47	chr15:75492982-75493032	NT2-D1	testis:	n/a
48	chr15:75492982-75493032	GM06990	blood:	n/a
49	chr15:75492982-75493032	AG04449	skin:	fetal
50	chr15:75492982-75493032	K562	blood:	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	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
16	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
17	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
C15orf39	CpG island
ENSG00000198794	Chromatin interaction
ENSG00000260152	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000240366	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:97 , 50 per page) page: 1 2

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	chr15:75490800-75493000	Enhancers	Gastric	stomach
11	chr15:75490800-75493200	Enhancers	Thymus	Thymus
12	chr15:75490800-75493200	Enhancers	K562	blood
13	chr15:75491000-75493400	Weak transcription	Brain Anterior Caudate	brain
14	chr15:75491200-75493200	Enhancers	Primary T cells from cord blood	blood
15	chr15:75491200-75493200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr15:75491200-75493600	Enhancers	Lung	lung
17	chr15:75491200-75494000	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:75491200-75494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr15:75491400-75493400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:75491600-75493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:75491600-75493200	Enhancers	Adipose Nuclei	Adipose
22	chr15:75491600-75493200	Weak transcription	Liver	Liver
23	chr15:75491600-75493200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:75491800-75493000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:75491800-75493200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:75491800-75493400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:75491800-75493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:75492000-75493200	Enhancers	Primary B cells from cord blood	blood
29	chr15:75492000-75493200	Enhancers	Fetal Thymus	thymus
30	chr15:75492000-75493400	Enhancers	Brain Hippocampus Middle	brain
31	chr15:75492000-75493400	Enhancers	Dnd41	blood
32	chr15:75492000-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:75492200-75493200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:75492200-75493200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:75492200-75493200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:75492200-75493400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:75492200-75493400	Enhancers	Right Ventricle	heart
38	chr15:75492200-75493600	Enhancers	Left Ventricle	heart
39	chr15:75492200-75494000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr15:75492400-75493000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr15:75492400-75493000	Enhancers	Small Intestine	intestine
42	chr15:75492400-75493200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:75492400-75493200	Enhancers	Fetal Heart	heart
44	chr15:75492400-75493200	Bivalent Enhancer	Fetal Stomach	stomach
45	chr15:75492400-75493400	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:75492400-75493600	Enhancers	Right Atrium	heart
47	chr15:75492400-75494000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr15:75492400-75494000	Flanking Active TSS	Hela-S3	cervix
49	chr15:75492600-75493000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr15:75492600-75493000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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