Variant report

Variant	rs34718487
Chromosome Location	chr15:75074836-75074837
allele	A/C
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	MAZ	chr15:75073083-75075066	GM12878	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
2	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
3	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
4	SMARCB1	chr15:75074043-75075660	Hela-S3	cervix:	n/a	n/a
5	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
6	SPI1	chr15:75074193-75074921	HL-60	blood:	n/a	chr15:75074840-75074853 chr15:75074435-75074442
7	SPI1	chr15:75074581-75074898	GM12891	blood:	n/a	chr15:75074840-75074853
8	POLR2A	chr15:75074224-75074937	HUVEC	blood vessel:	n/a	n/a
9	TAF1	chr15:75074251-75074926	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:75074140-75075166	A549	lung:	n/a	n/a
11	POLR2A	chr15:75072747-75076658	GM15510	blood:	n/a	n/a
12	CHD1	chr15:75072626-75075303	GM12878	blood:	n/a	chr15:75074975-75074985
13	POLR2A	chr15:75074356-75075220	K562	blood:	n/a	n/a
14	ELF1	chr15:75073616-75074995	GM12878	blood:	n/a	chr15:75074499-75074508 chr15:75074514-75074523 chr15:75074496-75074505 chr15:75074663-75074675 chr15:75074637-75074649 chr15:75074506-75074518 chr15:75074495-75074507
15	GABPA	chr15:75074211-75074848	K562	blood:	n/a	chr15:75074622-75074631 chr15:75074778-75074785
16	POLR2A	chr15:75073692-75076557	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:75074228-75075055	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
19	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:75074314-75075443	HepG2	liver:	n/a	n/a
21	UBTF	chr15:75074278-75076170	K562	blood:	n/a	n/a
22	POLR2A	chr15:75073852-75076539	GM18526	blood:	n/a	n/a
23	POLR2A	chr15:75072776-75076691	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:75074831-75074917	A549	lung:	n/a	n/a
25	TAF1	chr15:75074092-75074853	ECC-1	luminal epithelium:	n/a	n/a
26	ZBTB7A	chr15:75073949-75075116	K562	blood:	n/a	n/a
27	POLR2A	chr15:75072912-75077100	GM19193	blood:	n/a	n/a
28	MYC	chr15:75074163-75075414	K562	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
29	POLR2A	chr15:75073091-75076671	HL-60	blood:	n/a	n/a
30	CTCF	chr15:75073743-75074869	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr15:75073791-75076685	GM12892	blood:	n/a	n/a
32	POLR2A	chr15:75074140-75075185	K562	blood:	n/a	n/a
33	POLR2A	chr15:75074272-75074881	Hela-S3	cervix:	n/a	n/a
34	MTA3	chr15:75074835-75078490	GM12878	blood:	n/a	n/a
35	ELF1	chr15:75073864-75074982	GM12878	blood:	n/a	chr15:75074499-75074508 chr15:75074506-75074518 chr15:75074496-75074505 chr15:75074663-75074675 chr15:75074514-75074523 chr15:75074495-75074507 chr15:75074637-75074649
36	MAX	chr15:75074832-75075104	K562	blood:	n/a	chr15:75074887-75074897
37	POLR2A	chr15:75072953-75077123	GM18951	blood:	n/a	n/a
38	POLR2A	chr15:75074280-75076499	HL-60	blood:	n/a	n/a
39	MAZ	chr15:75074104-75075033	K562	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
40	SIN3AK20	chr15:75074078-75074906	K562	blood:	n/a	n/a
41	POLR2A	chr15:75072603-75078342	GM18505	blood:	n/a	n/a
42	POLR2A	chr15:75074102-75075926	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr15:75074816-75076687	GM12892	blood:	n/a	n/a
44	POLR2A	chr15:75074190-75075204	NB4	blood:	n/a	n/a
45	POLR2A	chr15:75074193-75075156	ProgFib	skin:	n/a	n/a
46	ZBTB7A	chr15:75074617-75075424	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr15:75073190-75076607	NB4	blood:	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
48	POLR2A	chr15:75074106-75076545	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:75072699-75083327	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:75072979-75074888	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
2	chr15:75073135..75075746-chr15:75163972..75165852,2	K562	blood:
3	chr15:74927868..74930219-chr15:75074349..75076958,3	MCF-7	breast:
4	chr15:75074174..75075858-chr15:75112738..75114767,2	MCF-7	breast:
5	chr15:75073526..75075460-chr15:75228949..75230471,2	MCF-7	breast:
6	chr15:75074322..75074886-chr15:75092284..75093191,2	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	chr15:75074321..75074842-chr17:78120823..78121661,2	Hela-S3	cervix:
10	chr15:75073924..75075938-chr17:37855960..37858891,2	MCF-7	breast:
11	chr15:75072788..75075776-chr15:75181274..75184204,2	K562	blood:
12	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
13	chr15:75073435..75075467-chr15:75197436..75200109,2	K562	blood:
14	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
15	chr15:75073739..75076026-chr15:75228940..75231737,2	MCF-7	breast:
16	chr15:75074194..75076388-chr15:75195576..75199734,3	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	chr15:75074533..75077400-chr15:75247038..75249331,2	MCF-7	breast:
21	chr15:75074533..75077222-chr15:75090764..75094129,5	MCF-7	breast:
22	chr15:75072881..75075069-chr15:75249092..75251017,2	K562	blood:
23	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
24	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
25	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
26	chr15:75074806..75076876-chr15:75192504..75194161,2	K562	blood:
27	chr15:75072788..75075776-chr15:75181274..75184204,3	K562	blood:
28	chr15:74915721..74919302-chr15:75074662..75077539,3	MCF-7	breast:
29	chr15:75074461..75076806-chr15:75112062..75114585,2	K562	blood:
30	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140497	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000141543	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000178761	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75073600-75076400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:75073800-75075600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:75073800-75076200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:75073800-75076200	Active TSS	Small Intestine	intestine
5	chr15:75073800-75076600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:75074000-75075400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:75074000-75075400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:75074000-75075400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:75074000-75075600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:75074000-75076000	Active TSS	Primary T cells from cord blood	blood
11	chr15:75074000-75076200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:75074000-75076400	Active TSS	Fetal Kidney	kidney
13	chr15:75074000-75077000	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:75074200-75075000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75074200-75075000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:75074200-75075000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:75074200-75075000	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr15:75074200-75075000	Active TSS	Primary B cells from cord blood	blood
19	chr15:75074200-75075000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr15:75074200-75075000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:75074200-75075000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr15:75074200-75075000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:75074200-75075000	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr15:75074200-75075000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:75074200-75075000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:75074200-75075000	Active TSS	Adipose Nuclei	Adipose
27	chr15:75074200-75075000	Active TSS	Brain Anterior Caudate	brain
28	chr15:75074200-75075000	Active TSS	Brain Cingulate Gyrus	brain
29	chr15:75074200-75075000	Active TSS	Brain Germinal Matrix	brain
30	chr15:75074200-75075000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr15:75074200-75075000	Active TSS	Fetal Brain Female	brain
32	chr15:75074200-75075000	Weak transcription	Fetal Heart	heart
33	chr15:75074200-75075000	Active TSS	Pancreas	Pancrea
34	chr15:75074200-75075000	Active TSS	Placenta Amnion	Placenta Amnion
35	chr15:75074200-75075000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:75074200-75075000	Active TSS	Right Ventricle	heart
37	chr15:75074200-75075000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:75074200-75075000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr15:75074200-75075000	Weak transcription	Stomach Mucosa	stomach
40	chr15:75074200-75075000	Active TSS	Stomach Smooth Muscle	stomach
41	chr15:75074200-75075000	Active TSS	Spleen	Spleen
42	chr15:75074200-75075000	Active TSS	Hela-S3	cervix
43	chr15:75074200-75075000	Active TSS	NH-A	brain
44	chr15:75074200-75075000	Weak transcription	NHDF-Ad	bronchial
45	chr15:75074200-75075200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr15:75074200-75075200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:75074200-75075200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:75074200-75075200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:75074200-75075200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:75074200-75075200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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