Variant report

Variant	rs532790695
Chromosome Location	chr15:75073935-75073936
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	chr15:75073840-75073990	HAc	cerebellar:	n/a	n/a
2	MEF2C	chr15:75073457-75074047	GM12878	blood:	n/a	n/a
3	CEBPB	chr15:75073076-75074206	GM12878	blood:	n/a	n/a
4	MAZ	chr15:75073083-75075066	GM12878	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
5	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
6	MTA3	chr15:75072575-75074324	GM12878	blood:	n/a	n/a
7	MAX	chr15:75072957-75074557	GM12878	blood:	n/a	chr15:75074297-75074306
8	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
9	TCF12	chr15:75073931-75074565	A549	lung:	n/a	n/a
10	POLR2A	chr15:75072747-75076658	GM15510	blood:	n/a	n/a
11	POLR2A	chr15:75073747-75074619	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr15:75073871-75074322	GM12892	blood:	n/a	n/a
13	RUNX3	chr15:75072495-75074433	GM12878	blood:	n/a	n/a
14	CHD1	chr15:75072626-75075303	GM12878	blood:	n/a	chr15:75074975-75074985
15	CTCF	chr15:75073820-75073970	HEK293	kidney:	n/a	n/a
16	BHLHE40	chr15:75073187-75074456	GM12878	blood:	n/a	n/a
17	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
18	STAT5A	chr15:75072728-75074343	GM12878	blood:	n/a	chr15:75073158-75073170
19	E2F6	chr15:75073715-75074087	K562	blood:	n/a	n/a
20	WRNIP1	chr15:75072852-75074309	GM12878	blood:	n/a	n/a
21	MAX	chr15:75073702-75074501	H1-hESC	embryonic stem cell:	n/a	chr15:75074297-75074306
22	POLR2A	chr15:75073692-75076557	GM12878	blood:	n/a	n/a
23	E2F6	chr15:75073630-75074365	H1-hESC	embryonic stem cell:	n/a	chr15:75074196-75074203 chr15:75074196-75074203 chr15:75074196-75074203
24	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
25	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
26	TAF1	chr15:75073909-75074571	PFSK-1	brain:	n/a	n/a
27	MAX	chr15:75073665-75074531	K562	blood:	n/a	chr15:75074297-75074306
28	POLR2A	chr15:75072317-75074453	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr15:75072246-75074809	GM12891	blood:	n/a	n/a
30	CHD2	chr15:75073731-75074421	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:75073852-75076539	GM18526	blood:	n/a	n/a
32	KAP1	chr15:75073551-75074283	HEK293	kidney:	n/a	chr15:75074213-75074221
33	POLR2A	chr15:75072776-75076691	GM12892	blood:	n/a	n/a
34	MAX	chr15:75073616-75074546	ECC-1	luminal epithelium:	n/a	chr15:75074297-75074306
35	POLR2A	chr15:75073753-75073964	GM12878	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	CTCF	chr15:75073585-75074689	A549	lung:	n/a	n/a
39	RCOR1	chr15:75072631-75074461	GM12878	blood:	n/a	n/a
40	MAX	chr15:75073765-75074614	A549	lung:	n/a	chr15:75074297-75074306
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	chr15:75073656-75074694	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr15:75072649-75074283	GM12878	blood:	n/a	n/a
45	CTCF	chr15:75073840-75073990	GM12864	blood:	n/a	n/a
46	POLR2A	chr15:75073091-75076671	HL-60	blood:	n/a	n/a
47	CTCF	chr15:75073743-75074869	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr15:75073791-75076685	GM12892	blood:	n/a	n/a
49	CTCF	chr15:75073820-75073970	HepG2	liver:	n/a	n/a
50	YY1	chr15:75073658-75074015	GM12878	blood:	n/a	n/a

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	chr15:75073526..75075460-chr15:75228949..75230471,2	MCF-7	breast:
5	chr15:75072623..75074857-chr15:75134348..75137142,2	K562	blood:
6	chr15:75073924..75075938-chr17:37855960..37858891,2	MCF-7	breast:
7	chr15:75072788..75075776-chr15:75181274..75184204,2	K562	blood:
8	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
9	chr15:75073435..75075467-chr15:75197436..75200109,2	K562	blood:
10	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
11	chr15:75073739..75076026-chr15:75228940..75231737,2	MCF-7	breast:
12	chr15:75073774..75074799-chr15:75092256..75093185,7	MCF-7	breast:
13	chr15:75072694..75075868-chr15:75228655..75230932,4	K562	blood:
14	chr15:75072740..75076753-chr15:75116483..75119304,4	MCF-7	breast:
15	chr15:75072694..75075672-chr15:75228478..75230738,4	K562	blood:
16	chr15:75072881..75075069-chr15:75249092..75251017,2	K562	blood:
17	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
18	chr15:75073852..75074625-chr15:75135150..75135967,3	MCF-7	breast:
19	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
20	chr15:75063124..75064142-chr15:75073395..75074345,3	K562	blood:
21	chr15:75072788..75075776-chr15:75181274..75184204,3	K562	blood:
22	chr15:75073922..75074422-chr21:42742045..42742898,2	NB4	blood:
23	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140497	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000183486	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000198794	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75067400-75074200	Enhancers	Stomach Mucosa	stomach
2	chr15:75071600-75074200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr15:75072200-75074000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr15:75072200-75074200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:75072200-75074200	Flanking Active TSS	GM12878-XiMat	blood
6	chr15:75072200-75074200	Flanking Active TSS	HepG2	liver
7	chr15:75072200-75074200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr15:75072400-75074000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr15:75072400-75074200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:75072400-75074200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr15:75072400-75074200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr15:75072400-75074200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr15:75072400-75074200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:75072400-75074200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr15:75072400-75074200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr15:75072400-75074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:75072600-75074000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:75072600-75074000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr15:75072600-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:75072600-75074200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr15:75072600-75074400	Flanking Active TSS	Liver	Liver
24	chr15:75072600-75074400	Flanking Active TSS	Colonic Mucosa	Colon
25	chr15:75072600-75074400	Flanking Active TSS	Fetal Thymus	thymus
26	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr15:75072800-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:75072800-75074200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr15:75072800-75074200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:75072800-75074200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:75072800-75074200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:75072800-75074200	Flanking Active TSS	Thymus	Thymus
34	chr15:75072800-75074400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr15:75072800-75074400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:75073000-75074000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:75073000-75074000	Enhancers	Gastric	stomach
38	chr15:75073000-75074200	Flanking Active TSS	Fetal Brain Female	brain
39	chr15:75073000-75074400	Flanking Active TSS	Dnd41	blood
40	chr15:75073200-75074000	Enhancers	Left Ventricle	heart
41	chr15:75073200-75074000	Enhancers	Pancreas	Pancrea
42	chr15:75073200-75074200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr15:75073200-75074200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:75073200-75074200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:75073200-75074200	Flanking Active TSS	Fetal Brain Male	brain
46	chr15:75073200-75074200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:75073200-75074400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr15:75073200-75074400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr15:75073400-75074000	Enhancers	Lung	lung
50	chr15:75073400-75074000	Enhancers	Right Atrium	heart

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