Variant report

Variant	rs73413689
Chromosome Location	chr15:55582433-55582434
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	POLR2A	chr15:55581815-55582535	ECC-1	luminal epithelium:	n/a	n/a
2	ELF1	chr15:55581730-55583130	GM12878	blood:	n/a	chr15:55581973-55581982
3	MYC	chr15:55581987-55582996	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr15:55582298-55583106	H1-hESC	embryonic stem cell:	n/a	chr15:55582812-55582831 chr15:55582529-55582543
5	CREB1	chr15:55581849-55582686	A549	lung:	n/a	n/a
6	TBL1XR1	chr15:55581910-55582997	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:55581842-55582537	GM12892	blood:	n/a	n/a
8	BRCA1	chr15:55581993-55583064	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:55580947-55583094	HL-60	blood:	n/a	n/a
10	RELA	chr15:55581190-55583027	GM15510	blood:	n/a	chr15:55581592-55581601 chr15:55581592-55581601
11	POU2F2	chr15:55582107-55582476	GM12891	blood:	n/a	n/a
12	FOXM1	chr15:55581915-55583050	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:55582335-55582566	A549	lung:	n/a	n/a
14	POLR2A	chr15:55582176-55582576	U87	brain:	n/a	n/a
15	STAT1	chr15:55581217-55583034	K562	blood:	n/a	chr15:55582023-55582043 chr15:55582586-55582606 chr15:55582592-55582601 chr15:55582029-55582037 chr15:55582591-55582600 chr15:55581557-55581565 chr15:55582589-55582603 chr15:55581598-55581610 chr15:55582596-55582603 chr15:55582023-55582043
16	STAT3	chr15:55581361-55582922	MCF10A-Er-Src	breast:	n/a	chr15:55582023-55582043 chr15:55582586-55582606 chr15:55582592-55582601 chr15:55582590-55582601 chr15:55582029-55582037 chr15:55582591-55582600 chr15:55581557-55581565 chr15:55582589-55582603 chr15:55581598-55581610 chr15:55582596-55582603 chr15:55582023-55582043
17	JUND	chr15:55581228-55583108	K562	blood:	n/a	n/a
18	RAD21	chr15:55582383-55582979	H1-hESC	embryonic stem cell:	n/a	chr15:55582812-55582831 chr15:55582529-55582543
19	TBP	chr15:55581054-55583160	K562	blood:	n/a	n/a
20	POLR2A	chr15:55582325-55582473	A549	lung:	n/a	n/a
21	CHD2	chr15:55581928-55583107	GM12878	blood:	n/a	chr15:55582807-55582814 chr15:55582072-55582082
22	TAF1	chr15:55582140-55582514	GM12891	blood:	n/a	n/a
23	POLR2A	chr15:55581124-55583130	K562	blood:	n/a	n/a
24	MAX	chr15:55582292-55582604	K562	blood:	n/a	n/a
25	TEAD4	chr15:55582362-55582996	K562	blood:	n/a	n/a
26	NRF1	chr15:55582182-55582520	GM12878	blood:	n/a	n/a
27	MAZ	chr15:55581337-55583009	GM12878	blood:	n/a	chr15:55581473-55581483
28	ZNF143	chr15:55582365-55583140	K562	blood:	n/a	n/a
29	IRF1	chr15:55581937-55582962	K562	blood:	n/a	chr15:55582267-55582280 chr15:55582267-55582278 chr15:55582504-55582518
30	TCF7L2	chr15:55581878-55583228	Hela-S3	cervix:	n/a	chr15:55583007-55583016 chr15:55583004-55583020 chr15:55583008-55583015
31	POLR2A	chr15:55582253-55582577	A549	lung:	n/a	n/a
32	MAZ	chr15:55581139-55583156	IMR90	lung:	n/a	chr15:55581473-55581483
33	CHD2	chr15:55581700-55582561	K562	blood:	n/a	chr15:55582072-55582082
34	MAX	chr15:55582347-55583173	SK-N-SH	brain:	n/a	n/a
35	MAX	chr15:55581755-55583089	SK-N-SH	brain:	n/a	n/a
36	REST	chr15:55581084-55582764	HL-60	blood:	n/a	chr15:55581686-55581699 chr15:55581707-55581717 chr15:55582039-55582052 chr15:55581705-55581719 chr15:55581682-55581702 chr15:55582305-55582318 chr15:55582421-55582434 chr15:55581689-55581702
37	PAX5	chr15:55582244-55582532	GM12878	blood:	n/a	n/a
38	RCOR1	chr15:55581221-55583057	K562	blood:	n/a	n/a
39	ZKSCAN1	chr15:55581974-55582502	Hela-S3	cervix:	n/a	n/a
40	YY1	chr15:55582246-55582577	K562	blood:	n/a	chr15:55582445-55582456 chr15:55582505-55582516 chr15:55582525-55582536
41	POLR2A	chr15:55581096-55583112	NB4	blood:	n/a	n/a
42	RAD21	chr15:55582311-55583132	A549	lung:	n/a	chr15:55582812-55582831 chr15:55582529-55582543
43	POLR2A	chr15:55581857-55582458	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr15:55581091-55582600	K562	blood:	n/a	n/a
45	RCOR1	chr15:55581836-55582982	GM12878	blood:	n/a	n/a
46	TBP	chr15:55581972-55582994	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:55581079-55582537	GM12892	blood:	n/a	n/a
48	YY1	chr15:55582292-55582592	K562	blood:	n/a	chr15:55582445-55582456 chr15:55582505-55582516 chr15:55582525-55582536
49	FOXM1	chr15:55581740-55583135	GM12878	blood:	n/a	n/a
50	CTCF	chr15:55580992-55583211	SK-N-SH	brain:	n/a	chr15:55582857-55582870 chr15:55581968-55581981 chr15:55581782-55581795 chr15:55581569-55581579

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:55582394-55582444	AG09319	gingival:	n/a
2	chr15:55582394-55582444	HRE	kidney:	n/a
3	chr15:55582394-55582444	LNCaP	prostate:	n/a
4	chr15:55582394-55582444	K562	blood:	n/a
5	chr15:55582394-55582444	PANC-1	pancreas:	n/a
6	chr15:55582394-55582444	IMR90	lung:	fetal
7	chr15:55582394-55582444	NH-A	brain:	n/a
8	chr15:55582394-55582444	BE2_C	brain:	n/a
9	chr15:55582394-55582444	AG10803	skin:	n/a
10	chr15:55582394-55582444	GM12891	blood:	n/a
11	chr15:55582394-55582444	AG04450	lung:	fetal
12	chr15:55582394-55582444	SK-N-MC	brain:	n/a
13	chr15:55582394-55582444	HL-60	blood:	n/a
14	chr15:55582394-55582444	PrEC	prostate:	n/a
15	chr15:55582394-55582444	HCPEpiC	choroid plexus:	n/a
16	chr15:55582394-55582444	Hela-S3	cervix:	n/a
17	chr15:55582394-55582444	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:55582394-55582444	PFSK-1	brain:	n/a
19	chr15:55582394-55582444	ProgFib	skin:	n/a
20	chr15:55582394-55582444	GM12892	blood:	n/a
21	chr15:55582394-55582444	SK-N-SH_RA	brain:	n/a
22	chr15:55582394-55582444	HEEpiC	esophagus:	n/a
23	chr15:55582394-55582444	HRPEpiC	eye:	n/a
24	chr15:55582394-55582444	NHBE	bronchial:	n/a
25	chr15:55582394-55582444	A549	lung:	n/a
26	chr15:55582394-55582444	GM06990	blood:	n/a
27	chr15:55582394-55582444	ovcar-3	ovarian:	n/a
28	chr15:55582394-55582444	HMEC	breast:	n/a
29	chr15:55582394-55582444	GM12878	blood:	n/a
30	chr15:55582394-55582444	NB4	blood:	n/a
31	chr15:55582394-55582444	HAEpiC	amniotic membrane:	n/a
32	chr15:55582394-55582444	HCT-116	colon:	n/a
33	chr15:55582394-55582444	RPTEC	kidney:	n/a
34	chr15:55582394-55582444	HIPEpiC	eye:	n/a
35	chr15:55582394-55582444	MCF-7	breast:	n/a
36	chr15:55582394-55582444	NT2-D1	testis:	n/a
37	chr15:55582394-55582444	AG04449	skin:	fetal
38	chr15:55582394-55582444	CMK	blood:	n/a
39	chr15:55582394-55582444	HCM	heart:	n/a
40	chr15:55582394-55582444	GM19239	blood:	n/a
41	chr15:55582394-55582444	SK-N-SH	brain:	n/a
42	chr15:55582394-55582444	SKMC	muscle:	n/a
43	chr15:55582394-55582444	HepG2	liver:	n/a
44	chr15:55582394-55582444	SAEC	small airway:	n/a
45	chr15:55582394-55582444	BJ	skin:	n/a
46	chr15:55582394-55582444	U87	brain:	n/a
47	chr15:55582394-55582444	HNPCEpiC	eye:	n/a
48	chr15:55582394-55582444	ECC-1	luminal epithelium:	n/a
49	chr15:55582394-55582444	HRCEpiC	kidney:	n/a
50	chr15:55582394-55582444	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55582032..55583811-chr15:55727186..55728164,12	MCF-7	breast:
3	chr15:55509415..55510514-chr15:55582030..55583628,14	K562	blood:
4	chr15:55579295..55584870-chr15:55607881..55612970,10	K562	blood:
5	chr15:55582045..55582784-chr17:41392767..41393534,2	Hela-S3	cervix:
6	chr15:55582048..55582594-chr19:40949979..40950516,2	Hela-S3	cervix:
7	chr15:55509049..55510463-chr15:55582084..55583305,19	MCF-7	breast:
8	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
9	chr15:55580259..55584808-chr15:55609765..55612829,5	K562	blood:
10	chr15:55580735..55582255-chr15:55582320..55584429,2	MCF-7	breast:
11	chr15:55579894..55582757-chr15:55689915..55691723,2	K562	blood:
12	chr15:55580643..55583951-chr15:55698978..55701737,3	K562	blood:
13	chr15:55462838..55463684-chr15:55582353..55582908,2	K562	blood:
14	chr15:55582304..55584506-chr15:55726191..55728043,2	MCF-7	breast:
15	chr15:55496447..55499435-chr15:55582041..55583888,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCPG1-1	chr15:55582086-55582594	NONHSAT043986

Variant related genes	Relation type
RAB27A	TF binding region
RAB27A	CpG island
ENSG00000137876	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000225973	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11855032	0.90[EUR][1000 genomes]
rs11855084	1.00[EUR][1000 genomes]
rs11856786	0.95[EUR][1000 genomes]
rs11857829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
6	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
12	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr15:55576800-55582800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:55579000-55582800	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr15:55580000-55582800	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr15:55580000-55583000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr15:55580200-55582800	Active TSS	Stomach Mucosa	stomach
6	chr15:55580200-55582800	Active TSS	K562	blood
7	chr15:55580600-55582800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:55580600-55582800	Active TSS	HMEC	breast
9	chr15:55580600-55583000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr15:55580800-55582800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:55580800-55582800	Active TSS	Liver	Liver
12	chr15:55580800-55582800	Active TSS	Fetal Stomach	stomach
13	chr15:55580800-55583000	Active TSS	Rectal Smooth Muscle	rectum
14	chr15:55581000-55582600	Active TSS	Esophagus	oesophagus
15	chr15:55581000-55582600	Active TSS	Gastric	stomach
16	chr15:55581000-55582800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:55581000-55582800	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr15:55581000-55582800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr15:55581000-55582800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:55581000-55582800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:55581000-55582800	Active TSS	Fetal Intestine Large	intestine
22	chr15:55581000-55582800	Active TSS	Fetal Intestine Small	intestine
23	chr15:55581000-55582800	Active TSS	Right Ventricle	heart
24	chr15:55581000-55583000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:55581000-55583000	Active TSS	Pancreas	Pancrea
26	chr15:55581000-55583000	Active TSS	NHDF-Ad	bronchial
27	chr15:55581000-55583200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:55581200-55582600	Active TSS	Lung	lung
29	chr15:55581200-55582600	Active TSS	Small Intestine	intestine
30	chr15:55581200-55582600	Active TSS	Spleen	Spleen
31	chr15:55581200-55582800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:55581200-55582800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr15:55581200-55582800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:55581200-55582800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr15:55581200-55582800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:55581200-55582800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:55581200-55582800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:55581200-55582800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:55581200-55582800	Active TSS	Aorta	Aorta
40	chr15:55581200-55582800	Active TSS	Brain Angular Gyrus	brain
41	chr15:55581200-55582800	Active TSS	Ovary	ovary
42	chr15:55581200-55582800	Active TSS	Psoas Muscle	Psoas
43	chr15:55581200-55582800	Active TSS	GM12878-XiMat	blood
44	chr15:55581200-55582800	Active TSS	Hela-S3	cervix
45	chr15:55581200-55582800	Active TSS	HSMM	muscle
46	chr15:55581200-55583000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:55581200-55583000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:55581200-55583000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:55581200-55583000	Active TSS	Colon Smooth Muscle	Colon
50	chr15:55581200-55583000	Active TSS	Fetal Lung	lung

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