Variant report

Variant	rs56318551
Chromosome Location	chr15:75744563-75744564
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	POLR2A	chr15:75742638-75745077	HepG2	liver:	n/a	n/a
2	RFX5	chr15:75744274-75745075	K562	blood:	n/a	n/a
3	POLR2A	chr15:75743438-75747374	GM18526	blood:	n/a	n/a
4	IRF1	chr15:75744316-75745716	K562	blood:	n/a	chr15:75744517-75744531 chr15:75744480-75744490 chr15:75744490-75744504 chr15:75744480-75744494
5	POLR2A	chr15:75744280-75745252	HUVEC	blood vessel:	n/a	n/a
6	EP300	chr15:75744332-75745457	GM12878	blood:	n/a	n/a
7	MYC	chr15:75742769-75748166	K562	blood:	n/a	chr15:75746442-75746452 chr15:75743410-75743420 chr15:75745344-75745353 chr15:75747384-75747394 chr15:75743317-75743327 chr15:75743090-75743100
8	GATA3	chr15:75744072-75747405	A549	lung:	n/a	chr15:75745656-75745664
9	MAX	chr15:75744206-75744704	HepG2	liver:	n/a	n/a
10	HA-E2F1	chr15:75743979-75745356	MCF-7	breast:	n/a	chr15:75744157-75744164 chr15:75744157-75744164 chr15:75744156-75744165 chr15:75744156-75744168 chr15:75744516-75744526 chr15:75744157-75744164 chr15:75744698-75744707
11	POLR2A	chr15:75743608-75747480	GM12892	blood:	n/a	n/a
12	SP2	chr15:75743963-75744678	K562	blood:	n/a	chr15:75744157-75744172 chr15:75744179-75744194 chr15:75744160-75744169 chr15:75744383-75744406 chr15:75744098-75744121
13	CHD1	chr15:75742311-75749635	IMR90	lung:	n/a	chr15:75746254-75746264 chr15:75743636-75743646 chr15:75747775-75747785 chr15:75747345-75747355
14	SP1	chr15:75742409-75745771	A549	lung:	n/a	chr15:75744519-75744531 chr15:75744184-75744193 chr15:75744058-75744070 chr15:75742807-75742816 chr15:75742721-75742730 chr15:75744047-75744057 chr15:75743410-75743420 chr15:75743538-75743547 chr15:75743211-75743220 chr15:75743475-75743484 chr15:75743114-75743123 chr15:75743967-75743979 chr15:75743480-75743487 chr15:75743212-75743221 chr15:75744519-75744531 chr15:75743604-75743618 chr15:75743409-75743421 chr15:75743475-75743485 chr15:75742813-75742822 chr15:75744158-75744172 chr15:75743605-75743614 chr15:75744060-75744069 chr15:75743610-75743622 chr15:75743365-75743374 chr15:75743539-75743548 chr15:75744522-75744535 chr15:75742719-75742731 chr15:75743410-75743420 chr15:75743612-75743621 chr15:75743968-75743977 chr15:75743359-75743373 chr15:75744059-75744068 chr15:75744521-75744530 chr15:75743603-75743615 chr15:75743358-75743372 chr15:75743611-75743621 chr15:75743512-75743521 chr15:75743718-75743731 chr15:75743475-75743485 chr15:75743511-75743523 chr15:75742812-75742821 chr15:75743090-75743104 chr15:75744520-75744529 chr15:75743411-75743420 chr15:75744059-75744068 chr15:75743511-75743523 chr15:75743537-75743549 chr15:75743430-75743439 chr15:75743958-75743972 chr15:75743474-75743486 chr15:75742720-75742729 chr15:75744520-75744530 chr15:75743572-75743586 chr15:75743537-75743549 chr15:75744209-75744219 chr15:75743475-75743484 chr15:75743604-75743613 chr15:75742720-75742729 chr15:75743410-75743419 chr15:75744058-75744070 chr15:75742692-75742713 chr15:75742719-75742731 chr15:75743611-75743625 chr15:75743474-75743486 chr15:75742807-75742821 chr15:75744059-75744069 chr15:75743610-75743622 chr15:75744520-75744529 chr15:75743475-75743489 chr15:75743212-75743221 chr15:75743603-75743615 chr15:75743409-75743421 chr15:75743964-75743978 chr15:75743476-75743485
15	POLR2A	chr15:75744257-75746497	GM12891	blood:	n/a	n/a
16	POLR2A	chr15:75742468-75748864	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr15:75743796-75747292	GM12891	blood:	n/a	n/a
18	TBP	chr15:75744071-75745334	Hela-S3	cervix:	n/a	n/a
19	RFX5	chr15:75744067-75745113	GM12878	blood:	n/a	n/a
20	TAF7	chr15:75744254-75745837	H1-hESC	embryonic stem cell:	n/a	n/a
21	NRF1	chr15:75744475-75745130	K562	blood:	n/a	n/a
22	GTF2F1	chr15:75744088-75745268	Hela-S3	cervix:	n/a	n/a
23	FOS	chr15:75744096-75744631	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr15:75743762-75745770	HEK293	kidney:	n/a	n/a
25	POLR2A	chr15:75744054-75744787	A549	lung:	n/a	n/a
26	ZNF143	chr15:75744142-75744787	H1-hESC	embryonic stem cell:	n/a	chr15:75744339-75744357
27	ZKSCAN1	chr15:75743818-75745397	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:75744252-75745343	U87	brain:	n/a	n/a
29	POLR2A	chr15:75743699-75747421	K562	blood:	n/a	n/a
30	SRF	chr15:75744069-75744800	ECC-1	luminal epithelium:	n/a	n/a
31	MYC	chr15:75744209-75746962	K562	blood:	n/a	chr15:75746442-75746452 chr15:75745344-75745353
32	BACH1	chr15:75744559-75745745	H1-hESC	embryonic stem cell:	n/a	n/a
33	PBX3	chr15:75743799-75744940	A549	lung:	n/a	chr15:75744571-75744591
34	SP1	chr15:75743809-75744798	H1-hESC	embryonic stem cell:	n/a	chr15:75744519-75744531 chr15:75744184-75744193 chr15:75744058-75744070 chr15:75744047-75744057 chr15:75743967-75743979 chr15:75744519-75744531 chr15:75744158-75744172 chr15:75744060-75744069 chr15:75744522-75744535 chr15:75743968-75743977 chr15:75744059-75744068 chr15:75744521-75744530 chr15:75744520-75744529 chr15:75744059-75744068 chr15:75743958-75743972 chr15:75744520-75744530 chr15:75744209-75744219 chr15:75744058-75744070 chr15:75744059-75744069 chr15:75744520-75744529 chr15:75743964-75743978
35	HMGN3	chr15:75742859-75745258	K562	blood:	n/a	n/a
36	FOS	chr15:75743952-75744774	GM12878	blood:	n/a	chr15:75744061-75744070
37	MAFK	chr15:75744149-75745618	K562	blood:	n/a	n/a
38	POLR2A	chr15:75743623-75747364	K562	blood:	n/a	n/a
39	POLR2A	chr15:75744526-75744743	A549	lung:	n/a	n/a
40	POLR2A	chr15:75744238-75745207	SK-N-SH	brain:	n/a	n/a
41	FOXA1	chr15:75744263-75745096	T-47D	breast:	n/a	n/a
42	HEY1	chr15:75744164-75748809	K562	blood:	n/a	chr15:75747923-75747938 chr15:75744695-75744710 chr15:75747087-75747102
43	RELA	chr15:75743763-75747357	GM12891	blood:	n/a	chr15:75744037-75744046 chr15:75747223-75747232 chr15:75747223-75747232 chr15:75744037-75744046
44	NFYB	chr15:75743768-75744932	K562	blood:	n/a	chr15:75744326-75744336 chr15:75744568-75744580
45	POLR2A	chr15:75743935-75746516	GM12891	blood:	n/a	n/a
46	ELF1	chr15:75743790-75747271	MCF-7	breast:	n/a	chr15:75744388-75744400 chr15:75747190-75747202 chr15:75747088-75747097 chr15:75746445-75746457 chr15:75747133-75747142 chr15:75747130-75747139 chr15:75744315-75744328 chr15:75746290-75746299
47	ELF1	chr15:75743939-75744668	HepG2	liver:	n/a	chr15:75744388-75744400 chr15:75744315-75744328
48	MBD4	chr15:75744274-75745447	HepG2	liver:	n/a	n/a
49	CHD2	chr15:75744008-75744697	HepG2	liver:	n/a	n/a
50	FOXM1	chr15:75744070-75744566	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75743363..75745017-chr15:75917841..75919520,2	K562	blood:
2	chr15:75744276..75746320-chr20:45987544..45989803,2	MCF-7	breast:
3	chr15:75744060..75744813-chr6:33678935..33679655,2	Hela-S3	cervix:
4	chr15:75741578..75748624-chr15:75927989..75935113,20	K562	blood:
5	chr15:75657601..75665504-chr15:75739437..75749700,27	K562	blood:
6	chr15:75743610..75746369-chr15:75937608..75941096,3	K562	blood:
7	chr15:75743021..75745154-chr15:78857416..78860250,2	MCF-7	breast:
8	chr15:75744354..75750304-chr15:75868474..75873810,11	K562	blood:
9	chr15:75743800..75745854-chr15:75871441..75873983,2	K562	blood:
10	chr15:75673195..75675877-chr15:75743620..75745869,3	MCF-7	breast:
11	chr15:75741664..75745730-chr15:75869940..75872786,3	MCF-7	breast:
12	chr15:75742140..75749687-chr15:75929409..75934974,27	MCF-7	breast:
13	chr15:75743503..75749103-chr15:75916446..75919686,11	K562	blood:
14	chr15:75658070..75664945-chr15:75741625..75749756,25	K562	blood:
15	chr15:75743703..75744660-chr19:34855798..34856573,2	NB4	blood:
16	chr15:75744190..75746911-chr15:75963679..75965801,2	MCF-7	breast:
17	chr15:75741052..75746522-chr15:75930202..75934500,7	MCF-7	breast:
18	chr15:75744486..75745315-chr6:30034956..30035626,2	Hela-S3	cervix:
19	chr15:75134544..75136731-chr15:75744372..75746938,2	MCF-7	breast:
20	chr15:75744555..75745490-chr5:43484073..43484661,2	Hela-S3	cervix:
21	chr15:75741578..75748579-chr15:75928515..75935579,16	K562	blood:
22	chr15:75744318..75747084-chr15:75809053..75812043,2	MCF-7	breast:
23	chr15:75639207..75640858-chr15:75743116..75744779,2	MCF-7	breast:
24	chr14:45722471..45723281-chr15:75743983..75744975,2	Hela-S3	cervix:
25	chr15:75660401..75660959-chr15:75744394..75745370,2	Hela-S3	cervix:
26	chr10:127407240..127408007-chr15:75744395..75745221,2	Hela-S3	cervix:
27	chr15:75627797..75629612-chr15:75743113..75745396,2	K562	blood:
28	chr15:75721974..75724275-chr15:75744152..75746354,2	K562	blood:
29	chr15:75741711..75746813-chr15:75868980..75872679,7	MCF-7	breast:
30	chr15:75640869..75642530-chr15:75742504..75744688,2	K562	blood:
31	chr1:42800990..42801643-chr15:75744547..75745460,2	Hela-S3	cervix:
32	chr15:75656095..75662590-chr15:75739456..75750037,27	MCF-7	breast:
33	chr15:75657484..75665083-chr15:75741604..75749517,41	MCF-7	breast:
34	chr15:75743471..75745101-chr15:75938448..75940487,2	MCF-7	breast:

Variant related genes	Relation type
SIN3A	TF binding region
ENSG00000140474	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000140398	Chromatin interaction
ENSG00000105220	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000234134	Chromatin interaction
ENSG00000169684	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000260206	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000260235	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000173548	Chromatin interaction
ENSG00000198815	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11556266	1.00[AMR][1000 genomes]
rs56993051	1.00[AMR][1000 genomes]
rs58761842	1.00[AMR][1000 genomes]
rs61135277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023974	1.00[AMR][1000 genomes]
rs74023990	1.00[AMR][1000 genomes]
rs74023995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74023998	1.00[AMR][1000 genomes]
rs74026504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026512	1.00[AMR][1000 genomes]
rs74026514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904388	chr15:75730182-75804543	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv827389	chr15:75741918-75749453	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	esv3423390	chr15:75742324-75744872	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75741600-75748800	Active TSS	Ovary	ovary
2	chr15:75741800-75749000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75742000-75744800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr15:75742000-75748800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:75742200-75744600	Active TSS	NHLF	lung
6	chr15:75742200-75744800	Active TSS	HSMMtube	muscle
7	chr15:75742200-75745200	Active TSS	NHDF-Ad	bronchial
8	chr15:75742200-75745400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr15:75742200-75745800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:75742200-75746400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr15:75742200-75748600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:75742200-75748600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:75742200-75748600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr15:75742200-75748600	Active TSS	A549	lung
15	chr15:75742200-75748800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:75742200-75748800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:75742200-75748800	Active TSS	Fetal Kidney	kidney
18	chr15:75742200-75748800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr15:75742200-75749000	Active TSS	Psoas Muscle	Psoas
20	chr15:75742400-75744600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:75742400-75744600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:75742400-75744600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:75742400-75744600	Active TSS	Muscle Satellite Cultured Cells	--
24	chr15:75742400-75744600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:75742400-75744600	Active TSS	Fetal Stomach	stomach
26	chr15:75742400-75744600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr15:75742400-75744600	Active TSS	HMEC	breast
28	chr15:75742400-75744600	Active TSS	NHEK	skin
29	chr15:75742400-75744800	Active TSS	Fetal Brain Female	brain
30	chr15:75742400-75745000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:75742400-75745000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:75742400-75745000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:75742400-75745000	Active TSS	K562	blood
34	chr15:75742400-75745200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:75742400-75745200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr15:75742400-75745200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:75742400-75745200	Active TSS	Fetal Intestine Small	intestine
38	chr15:75742400-75745200	Active TSS	Pancreas	Pancrea
39	chr15:75742400-75745400	Active TSS	Right Ventricle	heart
40	chr15:75742400-75747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:75742400-75748600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:75742400-75748600	Active TSS	Left Ventricle	heart
43	chr15:75742400-75748600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr15:75742400-75748800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:75742400-75748800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:75742400-75748800	Active TSS	Right Atrium	heart
47	chr15:75742400-75749000	Active TSS	Fetal Intestine Large	intestine
48	chr15:75742400-75749200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr15:75742600-75744600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr15:75742600-75744600	Active TSS	Spleen	Spleen

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