Variant report

Variant	rs552459653
Chromosome Location	chr15:75495271-75495272
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	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	chr15:75495180-75495330	AoAF	blood vessel:	n/a	chr15:75495188-75495201
4	MAX	chr15:75494176-75495362	K562	blood:	n/a	n/a
5	POLR2A	chr15:75494714-75495520	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:75493768-75495303	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
8	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
9	JUND	chr15:75493817-75495328	K562	blood:	n/a	chr15:75494561-75494570
10	SP1	chr15:75493803-75495302	A549	lung:	n/a	chr15:75494143-75494152 chr15:75495008-75495017 chr15:75494141-75494153 chr15:75494141-75494153
11	POLR2A	chr15:75493875-75495325	HUVEC	blood vessel:	n/a	n/a
12	CHD2	chr15:75493912-75495387	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr15:75494188-75495365	H1-hESC	embryonic stem cell:	n/a	chr15:75494800-75494810 chr15:75494777-75494789 chr15:75494541-75494555
14	EP300	chr15:75494949-75495337	GM12878	blood:	n/a	chr15:75495184-75495193 chr15:75495183-75495192
15	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
17	MYC	chr15:75494750-75495355	MCF-7	breast:	n/a	n/a
18	NR2F2	chr15:75493632-75495397	MCF-7	breast:	n/a	n/a
19	MAX	chr15:75493804-75495477	SK-N-SH	brain:	n/a	chr15:75494093-75494102
20	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
21	ELF1	chr15:75494998-75495385	HepG2	liver:	n/a	chr15:75495186-75495195 chr15:75495209-75495220 chr15:75495210-75495219
22	CEBPB	chr15:75495013-75495830	GM12878	blood:	n/a	n/a
23	ZBTB7A	chr15:75494269-75495762	ECC-1	luminal epithelium:	n/a	chr15:75494779-75494788 chr15:75494464-75494471
24	POLR2A	chr15:75493847-75495406	GM10847	blood:	n/a	n/a
25	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
26	POLR2A	chr15:75493877-75495478	GM12878	blood:	n/a	n/a
27	FOXM1	chr15:75493957-75495379	GM12878	blood:	n/a	n/a
28	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
29	POLR2A	chr15:75494677-75495285	PANC-1	pancreas:	n/a	n/a
30	HDAC2	chr15:75493644-75495394	MCF-7	breast:	n/a	n/a
31	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
32	TBL1XR1	chr15:75494970-75495517	K562	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	POLR2A	chr15:75494754-75495830	K562	blood:	n/a	n/a
35	MYC	chr15:75494294-75495313	MCF10A-Er-Src	breast:	n/a	n/a
36	HCFC1	chr15:75495067-75495292	K562	blood:	n/a	n/a
37	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
38	ZEB1	chr15:75494879-75495281	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
40	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
41	POLR2A	chr15:75494193-75497747	GM12891	blood:	n/a	n/a
42	ZBTB7A	chr15:75494231-75495426	ECC-1	luminal epithelium:	n/a	chr15:75494779-75494788 chr15:75494464-75494471
43	POLR2A	chr15:75494622-75495274	HCT-116	colon:	n/a	n/a
44	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
45	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
46	TBL1XR1	chr15:75494232-75495511	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:75493886-75496356	HUVEC	blood vessel:	n/a	n/a
48	YY1	chr15:75493962-75495397	GM12892	blood:	n/a	chr15:75494107-75494118 chr15:75494469-75494483 chr15:75494584-75494595 chr15:75494237-75494251 chr15:75495011-75495025 chr15:75495141-75495150 chr15:75495183-75495192
49	TEAD4	chr15:75493637-75495376	ECC-1	luminal epithelium:	n/a	n/a
50	ELF1	chr15:75494784-75495373	K562	blood:	n/a	chr15:75495186-75495195 chr15:75495209-75495220 chr15:75495210-75495219

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75493870..75496515-chr15:75627756..75630428,2	K562	blood:
3	chr15:75494917..75495761-chr3:135969152..135969971,2	Hela-S3	cervix:
4	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
5	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
6	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
7	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:
8	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
9	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
10	chr15:75249199..75251809-chr15:75494359..75496397,2	K562	blood:
11	chr15:75334817..75335758-chr15:75495189..75496264,3	MCF-7	breast:
12	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
13	chr15:75485312..75486049-chr15:75494876..75495553,2	K562	blood:
14	chr15:75345292..75348855-chr15:75495155..75497587,4	K562	blood:
15	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
16	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
17	chr15:75411616..75414340-chr15:75494203..75495704,2	MCF-7	breast:
18	chr15:75366296..75367875-chr15:75495021..75496744,2	MCF-7	breast:
19	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
20	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000240366	Chromatin interaction
ENSG00000252722	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000198794	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	chr15:75493800-75495400	Active TSS	Left Ventricle	heart
13	chr15:75493800-75495400	Active TSS	Right Ventricle	heart
14	chr15:75493800-75495600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:75493800-75495600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:75493800-75495600	Active TSS	Rectal Smooth Muscle	rectum
17	chr15:75493800-75495600	Active TSS	Right Atrium	heart
18	chr15:75493800-75495600	Active TSS	NHDF-Ad	bronchial
19	chr15:75493800-75495800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr15:75493800-75495800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:75493800-75495800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:75493800-75495800	Active TSS	Gastric	stomach
23	chr15:75493800-75496000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:75493800-75496000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr15:75493800-75496200	Bivalent/Poised TSS	HepG2	liver
26	chr15:75493800-75496400	Active TSS	Psoas Muscle	Psoas
27	chr15:75494000-75495400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:75494000-75495400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:75494000-75495400	Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:75494000-75495400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:75494000-75495400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr15:75494000-75495400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:75494000-75495400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr15:75494000-75495400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr15:75494000-75495400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:75494000-75495400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:75494000-75495400	Active TSS	Brain Angular Gyrus	brain
38	chr15:75494000-75495400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr15:75494000-75495400	Active TSS	Duodenum Mucosa	Duodenum
40	chr15:75494000-75495400	Active TSS	Fetal Thymus	thymus
41	chr15:75494000-75495400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:75494000-75495400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr15:75494000-75495400	Active TSS	Stomach Mucosa	stomach
44	chr15:75494000-75495400	Active TSS	Spleen	Spleen
45	chr15:75494000-75495400	Active TSS	GM12878-XiMat	blood
46	chr15:75494000-75495400	Active TSS	HUVEC	blood vessel
47	chr15:75494000-75495400	Active TSS	K562	blood
48	chr15:75494000-75495400	Active TSS	NH-A	brain
49	chr15:75494000-75495600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:75494000-75495600	Active TSS	HUES48 Cell Line	embryonic stem cell

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