Variant report

Variant	rs139529999
Chromosome Location	chr15:75073428-75073429
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	CEBPB	chr15:75073076-75074206	GM12878	blood:	n/a	n/a
2	MAZ	chr15:75073083-75075066	GM12878	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
3	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
4	EBF1	chr15:75072789-75073615	GM12878	blood:	n/a	n/a
5	MTA3	chr15:75072575-75074324	GM12878	blood:	n/a	n/a
6	MAX	chr15:75072957-75074557	GM12878	blood:	n/a	chr15:75074297-75074306
7	POLR2A	chr15:75072958-75073749	GM12878	blood:	n/a	n/a
8	MAX	chr15:75073376-75073459	HepG2	liver:	n/a	n/a
9	NFATC1	chr15:75073094-75073758	GM12878	blood:	n/a	n/a
10	CEBPB	chr15:75073302-75073626	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:75072747-75076658	GM15510	blood:	n/a	n/a
12	POLR2A	chr15:75073043-75073737	GM12892	blood:	n/a	n/a
13	ELF1	chr15:75072841-75073503	GM12878	blood:	n/a	n/a
14	RUNX3	chr15:75072495-75074433	GM12878	blood:	n/a	n/a
15	STAT3	chr15:75072782-75073843	GM12878	blood:	n/a	chr15:75073158-75073170
16	PAX5	chr15:75073015-75073507	GM12878	blood:	n/a	chr15:75073158-75073167 chr15:75073196-75073214 chr15:75073381-75073398
17	CHD1	chr15:75072626-75075303	GM12878	blood:	n/a	chr15:75074975-75074985
18	BHLHE40	chr15:75073187-75074456	GM12878	blood:	n/a	n/a
19	SIN3A	chr15:75073250-75073487	GM12878	blood:	n/a	n/a
20	STAT5A	chr15:75072728-75074343	GM12878	blood:	n/a	chr15:75073158-75073170
21	TBL1XR1	chr15:75073197-75073608	GM12878	blood:	n/a	n/a
22	WRNIP1	chr15:75072852-75074309	GM12878	blood:	n/a	n/a
23	EBF1	chr15:75072858-75073908	GM12878	blood:	n/a	n/a
24	CEBPB	chr15:75073332-75073621	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:75072928-75073460	GM12878	blood:	n/a	n/a
26	BHLHE40	chr15:75073265-75073746	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
28	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
29	MAFK	chr15:75073338-75073621	HepG2	liver:	n/a	chr15:75073499-75073514
30	POLR2A	chr15:75072317-75074453	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr15:75073278-75073875	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr15:75072246-75074809	GM12891	blood:	n/a	n/a
33	POLR2A	chr15:75072585-75073561	GM12892	blood:	n/a	n/a
34	POLR2A	chr15:75073018-75073500	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:75072776-75076691	GM12892	blood:	n/a	n/a
36	MAX	chr15:75073077-75074774	HepG2	liver:	n/a	chr15:75074297-75074306
37	RELA	chr15:75072625-75074485	GM18951	blood:	n/a	n/a
38	ATF2	chr15:75073164-75073738	GM12878	blood:	n/a	n/a
39	RCOR1	chr15:75072631-75074461	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:75073222-75073517	GM12891	blood:	n/a	n/a
41	STAT5A	chr15:75072615-75074129	GM12878	blood:	n/a	chr15:75072684-75072696 chr15:75073158-75073170 chr15:75072651-75072662
42	POLR2A	chr15:75072912-75077100	GM19193	blood:	n/a	n/a
43	POLR2A	chr15:75072649-75074283	GM12878	blood:	n/a	n/a
44	EP300	chr15:75073336-75073536	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:75073091-75076671	HL-60	blood:	n/a	n/a
46	ZNF143	chr15:75073394-75073864	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:75073001-75073512	GM12891	blood:	n/a	n/a
48	PML	chr15:75072475-75074422	GM12878	blood:	n/a	chr15:75074213-75074221
49	POU2F2	chr15:75073121-75074631	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:75073047-75073631	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
2	chr15:75071180..75073699-chr15:75308688..75311602,2	MCF-7	breast:
3	chr15:75073135..75075746-chr15:75163972..75165852,2	K562	blood:
4	chr15:75072623..75074857-chr15:75134348..75137142,2	K562	blood:
5	chr15:75071239..75073598-chr15:75247193..75248970,3	K562	blood:
6	chr15:75072788..75075776-chr15:75181274..75184204,2	K562	blood:
7	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
8	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
9	chr15:74908350..74910118-chr15:75071323..75073781,2	MCF-7	breast:
10	chr15:75072694..75075868-chr15:75228655..75230932,4	K562	blood:
11	chr15:75072740..75076753-chr15:75116483..75119304,4	MCF-7	breast:
12	chr15:75072694..75075672-chr15:75228478..75230738,4	K562	blood:
13	chr15:75071971..75073821-chr15:75084189..75086951,2	K562	blood:
14	chr15:75072881..75075069-chr15:75249092..75251017,2	K562	blood:
15	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
16	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
17	chr15:75071239..75073598-chr15:75247367..75248970,2	K562	blood:
18	chr15:75063124..75064142-chr15:75073395..75074345,3	K562	blood:
19	chr15:75072788..75075776-chr15:75181274..75184204,3	K562	blood:
20	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75065600-75073600	Enhancers	Fetal Intestine Large	intestine
2	chr15:75065600-75073600	Enhancers	Fetal Intestine Small	intestine
3	chr15:75067400-75074200	Enhancers	Stomach Mucosa	stomach
4	chr15:75069600-75073800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:75070000-75073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:75070200-75073600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:75071600-75074200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr15:75072200-75073600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:75072200-75073600	Enhancers	Placenta	Placenta
10	chr15:75072200-75074000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr15:75072200-75074200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:75072200-75074200	Flanking Active TSS	GM12878-XiMat	blood
13	chr15:75072200-75074200	Flanking Active TSS	HepG2	liver
14	chr15:75072200-75074200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr15:75072400-75073600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:75072400-75073600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:75072400-75073600	Enhancers	NHLF	lung
18	chr15:75072400-75074000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:75072400-75074200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr15:75072400-75074200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr15:75072400-75074200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr15:75072400-75074200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr15:75072400-75074200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:75072400-75074200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr15:75072400-75074200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr15:75072400-75074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:75072600-75073600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr15:75072600-75073600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr15:75072600-75073600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:75072600-75073800	Enhancers	Fetal Stomach	stomach
33	chr15:75072600-75074000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:75072600-75074000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr15:75072600-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:75072600-75074200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr15:75072600-75074400	Flanking Active TSS	Liver	Liver
38	chr15:75072600-75074400	Flanking Active TSS	Colonic Mucosa	Colon
39	chr15:75072600-75074400	Flanking Active TSS	Fetal Thymus	thymus
40	chr15:75072800-75073600	Enhancers	Adipose Nuclei	Adipose
41	chr15:75072800-75073600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr15:75072800-75073600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr15:75072800-75073600	Weak transcription	A549	lung
44	chr15:75072800-75073800	Enhancers	NHDF-Ad	bronchial
45	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr15:75072800-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:75072800-75074200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:75072800-75074200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:75072800-75074200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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