Variant report

Variant	rs546209368
Chromosome Location	chr15:75074239-75074240
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	CTCF	chr15:75074180-75074330	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr15:75074180-75074330	HEK293	kidney:	n/a	n/a
3	CTCF	chr15:75074200-75074350	GM12878	blood:	n/a	n/a
4	CTCF	chr15:75074180-75074330	HPF	lung:	n/a	n/a
5	ZBTB7A	chr15:75074043-75074524	ECC-1	luminal epithelium:	n/a	n/a
6	YY1	chr15:75074045-75074814	HepG2	liver:	n/a	chr15:75074506-75074520 chr15:75074694-75074703 chr15:75074493-75074507 chr15:75074694-75074705 chr15:75074494-75074508 chr15:75074594-75074608 chr15:75074493-75074502 chr15:75074496-75074505 chr15:75074496-75074507 chr15:75074499-75074508 chr15:75074511-75074522
7	REST	chr15:75074132-75074688	PFSK-1	brain:	n/a	chr15:75074672-75074685
8	MAZ	chr15:75073083-75075066	GM12878	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
9	HDAC2	chr15:75074073-75074491	HepG2	liver:	n/a	n/a
10	EBF1	chr15:75074100-75074441	GM12878	blood:	n/a	n/a
11	BCLAF1	chr15:75072965-75074853	GM12878	blood:	n/a	chr15:75074511-75074524 chr15:75074495-75074504 chr15:75074499-75074512 chr15:75074507-75074520 chr15:75074593-75074606 chr15:75074498-75074507 chr15:75074495-75074508 chr15:75074594-75074607 chr15:75074496-75074509 chr15:75074493-75074506
12	YY1	chr15:75074120-75074903	GM12878	blood:	n/a	chr15:75074506-75074520 chr15:75074694-75074703 chr15:75074493-75074507 chr15:75074694-75074705 chr15:75074494-75074508 chr15:75074594-75074608 chr15:75074493-75074502 chr15:75074496-75074505 chr15:75074496-75074507 chr15:75074499-75074508 chr15:75074511-75074522
13	CTCF	chr15:75074225-75074422	Medullo	brain:	n/a	n/a
14	ZBTB7A	chr15:75074168-75074324	HepG2	liver:	n/a	n/a
15	CTCF	chr15:75074180-75074330	AG10803	skin:	n/a	n/a
16	MTA3	chr15:75072575-75074324	GM12878	blood:	n/a	n/a
17	CTCF	chr15:75074220-75074370	GM12866	blood:	n/a	n/a
18	SMARCB1	chr15:75074043-75075660	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:75074100-75074250	BE2_C	brain:	n/a	n/a
20	TAF1	chr15:75074166-75074742	HepG2	liver:	n/a	n/a
21	MAX	chr15:75072957-75074557	GM12878	blood:	n/a	chr15:75074297-75074306
22	ZNF143	chr15:75074201-75074442	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr15:75074101-75074539	GM12878	blood:	n/a	n/a
24	MAX	chr15:75073547-75076408	A549	lung:	n/a	chr15:75075992-75076005 chr15:75074887-75074897 chr15:75075994-75076003 chr15:75075994-75076004 chr15:75075993-75076004 chr15:75074297-75074306 chr15:75075992-75076005 chr15:75075993-75076003 chr15:75075993-75076004
25	RAD21	chr15:75074015-75074589	ECC-1	luminal epithelium:	n/a	n/a
26	TCF12	chr15:75073931-75074565	A549	lung:	n/a	n/a
27	SPI1	chr15:75074193-75074921	HL-60	blood:	n/a	chr15:75074840-75074853 chr15:75074435-75074442
28	EGR1	chr15:75073959-75074537	MCF-7	breast:	n/a	chr15:75074287-75074297 chr15:75074300-75074310 chr15:75074295-75074308 chr15:75074295-75074308 chr15:75074295-75074309 chr15:75074173-75074183
29	CREB1	chr15:75074110-75074803	A549	lung:	n/a	n/a
30	CTCF	chr15:75074180-75074330	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr15:75074080-75074350	WI-38	lung:	n/a	n/a
32	CTCF	chr15:75074150-75074517	A549	lung:	n/a	n/a
33	CTCF	chr15:75074180-75074330	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr15:75074203-75074461	MCF-7	breast:	n/a	n/a
35	POLR2A	chr15:75074224-75074937	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr15:75074140-75075166	A549	lung:	n/a	n/a
37	FOXA2	chr15:75074140-75074601	A549	lung:	n/a	n/a
38	CTCF	chr15:75074199-75074434	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:75072747-75076658	GM15510	blood:	n/a	n/a
40	SMC3	chr15:75074140-75074499	Hela-S3	cervix:	n/a	n/a
41	TBP	chr15:75074167-75074776	K562	blood:	n/a	n/a
42	CTCF	chr15:75074200-75074350	SK-N-SH_RA	brain:	n/a	n/a
43	SIN3AK20	chr15:75074013-75074795	PANC-1	pancreas:	n/a	n/a
44	CTCF	chr15:75074191-75074466	MCF-7	breast:	n/a	n/a
45	POLR2A	chr15:75073747-75074619	H1-neurons	neurons:	n/a	n/a
46	JUND	chr15:75074203-75074369	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:75073871-75074322	GM12892	blood:	n/a	n/a
48	JUND	chr15:75074157-75074349	K562	blood:	n/a	n/a
49	CTCF	chr15:75074150-75074475	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr15:75074077-75074342	GM12878	blood:	n/a	chr15:75074293-75074309 chr15:75074280-75074296

No.	Distal block	Cell Line	Cell type
1	chr15:75073819..75074794-chr15:75091819..75093280,12	MCF-7	breast:
2	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
3	chr15:75073135..75075746-chr15:75163972..75165852,2	K562	blood:
4	chr15:75073996..75074536-chr20:46292269..46292964,2	MCF-7	breast:
5	chr15:75074174..75075858-chr15:75112738..75114767,2	MCF-7	breast:
6	chr15:75073526..75075460-chr15:75228949..75230471,2	MCF-7	breast:
7	chr15:75072623..75074857-chr15:75134348..75137142,2	K562	blood:
8	chr15:75074126..75076948-chr15:75116903..75120530,4	MCF-7	breast:
9	chr15:75073924..75075938-chr17:37855960..37858891,2	MCF-7	breast:
10	chr15:75072788..75075776-chr15:75181274..75184204,2	K562	blood:
11	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
12	chr15:75073435..75075467-chr15:75197436..75200109,2	K562	blood:
13	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
14	chr15:75073739..75076026-chr15:75228940..75231737,2	MCF-7	breast:
15	chr15:75074194..75076388-chr15:75195576..75199734,3	MCF-7	breast:
16	chr15:75073774..75074799-chr15:75092256..75093185,7	MCF-7	breast:
17	chr15:75072694..75075868-chr15:75228655..75230932,4	K562	blood:
18	chr15:75072740..75076753-chr15:75116483..75119304,4	MCF-7	breast:
19	chr15:75072694..75075672-chr15:75228478..75230738,4	K562	blood:
20	chr15:75072881..75075069-chr15:75249092..75251017,2	K562	blood:
21	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
22	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
23	chr15:75073852..75074625-chr15:75135150..75135967,3	MCF-7	breast:
24	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
25	chr15:75063124..75064142-chr15:75073395..75074345,3	K562	blood:
26	chr15:75072788..75075776-chr15:75181274..75184204,3	K562	blood:
27	chr15:75073922..75074422-chr21:42742045..42742898,2	NB4	blood:
28	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000178741	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000183486	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS 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	46 gene(s)	inside rSNPs	diseases
3	esv3373735	chr15:75073424-75076272	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3407516	chr15:75073449-75075972	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75072400-75074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:75072600-75074400	Flanking Active TSS	Liver	Liver
3	chr15:75072600-75074400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr15:75072600-75074400	Flanking Active TSS	Fetal Thymus	thymus
5	chr15:75072800-75074400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr15:75072800-75074400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:75073000-75074400	Flanking Active TSS	Dnd41	blood
8	chr15:75073200-75074400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr15:75073200-75074400	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr15:75073400-75074400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:75073600-75074400	Flanking Active TSS	Placenta	Placenta
12	chr15:75073600-75076400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr15:75073800-75074400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:75073800-75075600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:75073800-75076200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:75073800-75076200	Active TSS	Small Intestine	intestine
17	chr15:75073800-75076600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:75074000-75074400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr15:75074000-75075400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:75074000-75075400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:75074000-75075400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:75074000-75075600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:75074000-75076000	Active TSS	Primary T cells from cord blood	blood
24	chr15:75074000-75076200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr15:75074000-75076400	Active TSS	Fetal Kidney	kidney
26	chr15:75074000-75077000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr15:75074200-75074400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:75074200-75074400	Active TSS	Brain Hippocampus Middle	brain
29	chr15:75074200-75074400	Active TSS	Colon Smooth Muscle	Colon
30	chr15:75074200-75074400	Enhancers	Fetal Brain Male	brain
31	chr15:75074200-75075000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:75074200-75075000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:75074200-75075000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:75074200-75075000	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr15:75074200-75075000	Active TSS	Primary B cells from cord blood	blood
36	chr15:75074200-75075000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr15:75074200-75075000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:75074200-75075000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:75074200-75075000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:75074200-75075000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr15:75074200-75075000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:75074200-75075000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:75074200-75075000	Active TSS	Adipose Nuclei	Adipose
44	chr15:75074200-75075000	Active TSS	Brain Anterior Caudate	brain
45	chr15:75074200-75075000	Active TSS	Brain Cingulate Gyrus	brain
46	chr15:75074200-75075000	Active TSS	Brain Germinal Matrix	brain
47	chr15:75074200-75075000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr15:75074200-75075000	Active TSS	Fetal Brain Female	brain
49	chr15:75074200-75075000	Weak transcription	Fetal Heart	heart
50	chr15:75074200-75075000	Active TSS	Pancreas	Pancrea

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