Variant report

Variant	rs573726549
Chromosome Location	chr15:75074013-75074014
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	MEF2C	chr15:75073457-75074047	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:75073076-75074206	GM12878	blood:	n/a	n/a
3	MAZ	chr15:75073083-75075066	GM12878	blood:	n/a	chr15:75074887-75074897 chr15:75074297-75074306
4	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
5	MTA3	chr15:75072575-75074324	GM12878	blood:	n/a	n/a
6	MAX	chr15:75072957-75074557	GM12878	blood:	n/a	chr15:75074297-75074306
7	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
8	TCF12	chr15:75073931-75074565	A549	lung:	n/a	n/a
9	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
10	POLR2A	chr15:75072747-75076658	GM15510	blood:	n/a	n/a
11	SIN3AK20	chr15:75074013-75074795	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr15:75073747-75074619	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr15:75073871-75074322	GM12892	blood:	n/a	n/a
14	FOXP2	chr15:75073966-75074642	PFSK-1	brain:	n/a	n/a
15	RUNX3	chr15:75072495-75074433	GM12878	blood:	n/a	n/a
16	CHD1	chr15:75072626-75075303	GM12878	blood:	n/a	chr15:75074975-75074985
17	BHLHE40	chr15:75073187-75074456	GM12878	blood:	n/a	n/a
18	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
19	STAT5A	chr15:75072728-75074343	GM12878	blood:	n/a	chr15:75073158-75073170
20	E2F6	chr15:75073715-75074087	K562	blood:	n/a	n/a
21	WRNIP1	chr15:75072852-75074309	GM12878	blood:	n/a	n/a
22	MAX	chr15:75073702-75074501	H1-hESC	embryonic stem cell:	n/a	chr15:75074297-75074306
23	POLR2A	chr15:75073692-75076557	GM12878	blood:	n/a	n/a
24	E2F6	chr15:75073630-75074365	H1-hESC	embryonic stem cell:	n/a	chr15:75074196-75074203 chr15:75074196-75074203 chr15:75074196-75074203
25	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
26	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
27	TAF1	chr15:75073909-75074571	PFSK-1	brain:	n/a	n/a
28	MAX	chr15:75073665-75074531	K562	blood:	n/a	chr15:75074297-75074306
29	POLR2A	chr15:75072317-75074453	SK-N-MC	brain:	n/a	n/a
30	CTCF	chr15:75074000-75074150	A549	lung:	n/a	n/a
31	POLR2A	chr15:75072246-75074809	GM12891	blood:	n/a	n/a
32	CHD2	chr15:75073731-75074421	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:75073852-75076539	GM18526	blood:	n/a	n/a
34	MXI1	chr15:75073967-75074769	HepG2	liver:	n/a	n/a
35	KAP1	chr15:75073551-75074283	HEK293	kidney:	n/a	chr15:75074213-75074221
36	POLR2A	chr15:75072776-75076691	GM12892	blood:	n/a	n/a
37	MAX	chr15:75073616-75074546	ECC-1	luminal epithelium:	n/a	chr15:75074297-75074306
38	MAX	chr15:75073077-75074774	HepG2	liver:	n/a	chr15:75074297-75074306
39	RELA	chr15:75072625-75074485	GM18951	blood:	n/a	n/a
40	CTCF	chr15:75073585-75074689	A549	lung:	n/a	n/a
41	RCOR1	chr15:75072631-75074461	GM12878	blood:	n/a	n/a
42	MAX	chr15:75073765-75074614	A549	lung:	n/a	chr15:75074297-75074306
43	ZBTB7A	chr15:75073949-75075116	K562	blood:	n/a	n/a
44	STAT5A	chr15:75072615-75074129	GM12878	blood:	n/a	chr15:75072684-75072696 chr15:75073158-75073170 chr15:75072651-75072662
45	POLR2A	chr15:75072912-75077100	GM19193	blood:	n/a	n/a
46	POLR2A	chr15:75073656-75074694	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr15:75072649-75074283	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:75073091-75076671	HL-60	blood:	n/a	n/a
49	CTCF	chr15:75073743-75074869	SK-N-SH	brain:	n/a	n/a
50	MAX	chr15:75074012-75074518	HepG2	liver:	n/a	chr15:75074297-75074306

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:75074012-75074062	HIPEpiC	eye:	n/a
2	chr15:75074012-75074062	HAEpiC	amniotic membrane:	n/a
3	chr15:75074012-75074062	GM12891	blood:	n/a
4	chr15:75074012-75074062	HCT-116	colon:	n/a
5	chr15:75074012-75074062	U87	brain:	n/a
6	chr15:75074012-75074062	NB4	blood:	n/a
7	chr15:75074012-75074062	LNCaP	prostate:	n/a
8	chr15:75074012-75074062	GM12878	blood:	n/a
9	chr15:75074012-75074062	IMR90	lung:	fetal
10	chr15:75074012-75074062	NHBE	bronchial:	n/a
11	chr15:75074012-75074062	AG09319	gingival:	n/a
12	chr15:75074012-75074062	AoSMC	blood vessel:	n/a
13	chr15:75074012-75074062	NHDF-neo	bronchial:	n/a
14	chr15:75074012-75074062	AG04449	skin:	fetal
15	chr15:75074012-75074062	HRPEpiC	eye:	n/a
16	chr15:75074012-75074062	SK-N-MC	brain:	n/a
17	chr15:75074012-75074062	HMEC	breast:	n/a
18	chr15:75074012-75074062	ProgFib	skin:	n/a
19	chr15:75074012-75074062	NT2-D1	testis:	n/a
20	chr15:75074012-75074062	MCF10A-Er-Src	breast:	n/a
21	chr15:75074012-75074062	HCPEpiC	choroid plexus:	n/a
22	chr15:75074012-75074062	Caco-2	colon:	n/a
23	chr15:75074012-75074062	SKMC	muscle:	n/a
24	chr15:75074012-75074062	BJ	skin:	n/a
25	chr15:75074012-75074062	Hepatocyte	liver:	n/a
26	chr15:75074012-75074062	K562	blood:	n/a
27	chr15:75074012-75074062	A549	lung:	n/a
28	chr15:75074012-75074062	HCM	heart:	n/a
29	chr15:75074012-75074062	HPAEpiC	pulmonary alveolar:	n/a
30	chr15:75074012-75074062	ECC-1	luminal epithelium:	n/a
31	chr15:75074012-75074062	GM06990	blood:	n/a
32	chr15:75074012-75074062	SAEC	small airway:	n/a
33	chr15:75074012-75074062	HEEpiC	esophagus:	n/a
34	chr15:75074012-75074062	AG09309	skin:	n/a
35	chr15:75074012-75074062	HepG2	liver:	n/a
36	chr15:75074012-75074062	HL-60	blood:	n/a
37	chr15:75074012-75074062	GM19239	blood:	n/a
38	chr15:75074012-75074062	Hela-S3	cervix:	n/a
39	chr15:75074012-75074062	GM12892	blood:	n/a
40	chr15:75074012-75074062	Jurkat	blood:	n/a
41	chr15:75074012-75074062	HUVEC	blood vessel:	n/a
42	chr15:75074012-75074062	SK-N-SH	brain:	n/a
43	chr15:75074012-75074062	PANC-1	pancreas:	n/a
44	chr15:75074012-75074062	HRCEpiC	kidney:	n/a
45	chr15:75074012-75074062	H1-hESC	embryonic stem cell:	embryo
46	chr15:75074012-75074062	NH-A	brain:	n/a
47	chr15:75074012-75074062	AG10803	skin:	n/a
48	chr15:75074012-75074062	AG04450	lung:	fetal
49	chr15:75074012-75074062	T-47D	breast:	n/a
50	chr15:75074012-75074062	HEK293	kidney:	embryo

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

Variant related genes	Relation type
CSK	TF binding region
CSK	CpG island
ENSG00000183486	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000178741	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	chr15:75072200-75074200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:75072200-75074200	Flanking Active TSS	GM12878-XiMat	blood
5	chr15:75072200-75074200	Flanking Active TSS	HepG2	liver
6	chr15:75072200-75074200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:75072400-75074200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr15:75072400-75074200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr15:75072400-75074200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:75072400-75074200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr15:75072400-75074200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:75072400-75074200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr15:75072400-75074200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr15:75072400-75074200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr15:75072400-75074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:75072600-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:75072600-75074200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr15:75072600-75074400	Flanking Active TSS	Liver	Liver
20	chr15:75072600-75074400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr15:75072600-75074400	Flanking Active TSS	Fetal Thymus	thymus
22	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr15:75072800-75074200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr15:75072800-75074200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:75072800-75074200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr15:75072800-75074200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:75072800-75074200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:75072800-75074200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:75072800-75074200	Flanking Active TSS	Thymus	Thymus
30	chr15:75072800-75074400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr15:75072800-75074400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:75073000-75074200	Flanking Active TSS	Fetal Brain Female	brain
33	chr15:75073000-75074400	Flanking Active TSS	Dnd41	blood
34	chr15:75073200-75074200	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr15:75073200-75074200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr15:75073200-75074200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:75073200-75074200	Flanking Active TSS	Fetal Brain Male	brain
38	chr15:75073200-75074200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr15:75073200-75074400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr15:75073200-75074400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr15:75073400-75074200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:75073400-75074200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:75073400-75074200	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr15:75073400-75074200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr15:75073400-75074200	Flanking Active TSS	Fetal Lung	lung
46	chr15:75073400-75074200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr15:75073400-75074200	Flanking Active TSS	NHEK	skin
48	chr15:75073400-75074400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:75073600-75074200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:75073600-75074200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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