Variant report

Variant	rs73443047
Chromosome Location	chr15:83378796-83378797
allele	C/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	chr15:83378415-83378908	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr15:83377904-83378806	HepG2	liver:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
3	RCOR1	chr15:83378014-83378831	HepG2	liver:	n/a	n/a
4	MAX	chr15:83378058-83379150	MCF-7	breast:	n/a	n/a
5	REST	chr15:83377769-83379023	U87	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
6	MAX	chr15:83378210-83379127	ECC-1	luminal epithelium:	n/a	n/a
7	YY1	chr15:83378187-83378812	K562	blood:	n/a	chr15:83378559-83378568 chr15:83378562-83378571
8	REST	chr15:83377935-83378853	PANC-1	pancreas:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
9	SIN3AK20	chr15:83377645-83379259	MCF-7	breast:	n/a	n/a
10	CEBPB	chr15:83378342-83378838	MCF-7	breast:	n/a	chr15:83378619-83378630
11	JUND	chr15:83377999-83379116	MCF-7	breast:	n/a	n/a
12	POLR2A	chr15:83378368-83378860	MCF-7	breast:	n/a	n/a
13	CREB1	chr15:83378047-83378867	A549	lung:	n/a	n/a
14	CTCF	chr15:83378680-83378830	SK-N-SH_RA	brain:	n/a	n/a
15	REST	chr15:83377753-83379082	U87	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
16	MYC	chr15:83378675-83378797	K562	blood:	n/a	n/a
17	CHD2	chr15:83378736-83378808	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr15:83378058-83379029	K562	blood:	n/a	chr15:83378864-83378873 chr15:83378307-83378316 chr15:83378301-83378310
19	REST	chr15:83377431-83378946	PFSK-1	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
20	POLR2A	chr15:83377967-83379019	MCF-7	breast:	n/a	n/a
21	HMGN3	chr15:83377925-83378816	K562	blood:	n/a	chr15:83377966-83377975
22	MXI1	chr15:83377144-83379150	IMR90	lung:	n/a	chr15:83378876-83378885
23	REST	chr15:83377771-83378849	K562	blood:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
24	MAX	chr15:83377785-83379174	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr15:83377842-83378977	MCF-7	breast:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
26	REST	chr15:83377895-83378823	PANC-1	pancreas:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
27	UBTF	chr15:83378097-83378796	K562	blood:	n/a	n/a
28	TBP	chr15:83378435-83378948	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr15:83377889-83378818	SK-N-SH	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
30	HCFC1	chr15:83377982-83379323	Hela-S3	cervix:	n/a	n/a
31	REST	chr15:83377763-83378971	A549	lung:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
32	REST	chr15:83377757-83379088	PFSK-1	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
33	MAZ	chr15:83377926-83378957	K562	blood:	n/a	n/a
34	REST	chr15:83377675-83379123	U87	brain:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
35	CEBPB	chr15:83378447-83378811	IMR90	lung:	n/a	chr15:83378619-83378630
36	TAF1	chr15:83378351-83378986	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr15:83377106-83379478	SK-N-SH	brain:	n/a	chr15:83378876-83378885
38	REST	chr15:83377752-83379042	PANC-1	pancreas:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
39	HA-E2F1	chr15:83377664-83379246	MCF-7	breast:	n/a	chr15:83378720-83378730 chr15:83379061-83379073 chr15:83379062-83379069 chr15:83379062-83379069 chr15:83378562-83378571 chr15:83378660-83378670 chr15:83379062-83379069
40	NFIC	chr15:83378518-83379149	ECC-1	luminal epithelium:	n/a	chr15:83378780-83378797 chr15:83378780-83378796
41	RAD21	chr15:83378600-83378817	H1-hESC	embryonic stem cell:	n/a	n/a
42	EGR1	chr15:83378609-83379075	K562	blood:	n/a	chr15:83378859-83378872 chr15:83378923-83378932 chr15:83378859-83378869
43	SMARCB1	chr15:83377993-83378921	Hela-S3	cervix:	n/a	n/a
44	MAX	chr15:83378091-83378879	K562	blood:	n/a	n/a
45	MAX	chr15:83378119-83378819	Hela-S3	cervix:	n/a	n/a
46	REST	chr15:83377381-83379202	H1-neurons	neurons:	n/a	chr15:83378657-83378670 chr15:83378271-83378280
47	CEBPB	chr15:83378251-83378835	Hela-S3	cervix:	n/a	chr15:83378619-83378630
48	CEBPB	chr15:83378379-83378978	H1-hESC	embryonic stem cell:	n/a	chr15:83378619-83378630
49	MXI1	chr15:83378786-83378971	H1-hESC	embryonic stem cell:	n/a	chr15:83378876-83378885
50	REST	chr15:83377556-83379102	A549	lung:	n/a	chr15:83378657-83378670 chr15:83378271-83378280

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83378778-83378828	HAEpiC	amniotic membrane:	n/a
2	chr15:83378778-83378828	HMEC	breast:	n/a
3	chr15:83378778-83378828	BJ	skin:	n/a
4	chr15:83378759-83378809	AG09309	skin:	n/a
5	chr15:83378759-83378809	Caco-2	colon:	n/a
6	chr15:83378778-83378828	HCF	heart:	n/a
7	chr15:83378759-83378809	PFSK-1	brain:	n/a
8	chr15:83378778-83378828	ProgFib	skin:	n/a
9	chr15:83378778-83378828	HL-60	blood:	n/a
10	chr15:83378778-83378828	AG09319	gingival:	n/a
11	chr15:83378759-83378809	AG04450	lung:	fetal
12	chr15:83378759-83378809	T-47D	breast:	n/a
13	chr15:83378759-83378809	SK-N-SH_RA	brain:	n/a
14	chr15:83378759-83378809	HCM	heart:	n/a
15	chr15:83378778-83378828	T-47D	breast:	n/a
16	chr15:83378759-83378809	U87	brain:	n/a
17	chr15:83378778-83378828	HCPEpiC	choroid plexus:	n/a
18	chr15:83378778-83378828	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:83378778-83378828	NT2-D1	testis:	n/a
20	chr15:83378759-83378809	ProgFib	skin:	n/a
21	chr15:83378759-83378809	GM19239	blood:	n/a
22	chr15:83378759-83378809	A549	lung:	n/a
23	chr15:83378759-83378809	BJ	skin:	n/a
24	chr15:83378778-83378828	GM06990	blood:	n/a
25	chr15:83378778-83378828	HRCEpiC	kidney:	n/a
26	chr15:83378778-83378828	PFSK-1	brain:	n/a
27	chr15:83378778-83378828	SKMC	muscle:	n/a
28	chr15:83378778-83378828	GM12891	blood:	n/a
29	chr15:83378778-83378828	HRE	kidney:	n/a
30	chr15:83378778-83378828	BE2_C	brain:	n/a
31	chr15:83378759-83378809	AoSMC	blood vessel:	n/a
32	chr15:83378759-83378809	NHDF-neo	bronchial:	n/a
33	chr15:83378759-83378809	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:83378759-83378809	GM06990	blood:	n/a
35	chr15:83378759-83378809	RPTEC	kidney:	n/a
36	chr15:83378778-83378828	IMR90	lung:	fetal
37	chr15:83378778-83378828	NHBE	bronchial:	n/a
38	chr15:83378759-83378809	H1-hESC	embryonic stem cell:	embryo
39	chr15:83378759-83378809	IMR90	lung:	fetal
40	chr15:83378759-83378809	HCF	heart:	n/a
41	chr15:83378778-83378828	CMK	blood:	n/a
42	chr15:83378759-83378809	ECC-1	luminal epithelium:	n/a
43	chr15:83378778-83378828	Caco-2	colon:	n/a
44	chr15:83378759-83378809	AG04449	skin:	fetal
45	chr15:83378778-83378828	LNCaP	prostate:	n/a
46	chr15:83378759-83378809	AG09319	gingival:	n/a
47	chr15:83378778-83378828	RPTEC	kidney:	n/a
48	chr15:83378778-83378828	NH-A	brain:	n/a
49	chr15:83378759-83378809	PrEC	prostate:	n/a
50	chr15:83378759-83378809	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:83376531..83379793-chr15:83416772..83420723,7	MCF-7	breast:
2	chr15:83377715..83379913-chr15:83416850..83419570,2	K562	blood:
3	chr15:83347091..83349558-chr15:83378371..83383465,4	MCF-7	breast:
4	chr15:83376368..83380566-chr15:83381796..83385599,6	MCF-7	breast:
5	chr15:83366323..83369466-chr15:83375659..83378922,4	K562	blood:
6	chr15:83377728..83380235-chr15:83424270..83425985,2	MCF-7	breast:
7	chr15:83348934..83350853-chr15:83378356..83380655,2	K562	blood:

Variant related genes	Relation type
AP3B2	TF binding region
AP3B2	CpG island
ENSG00000103723	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000228141	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11858177	0.83[AFR][1000 genomes]
rs11858206	0.86[AFR][1000 genomes]
rs11858816	0.83[AFR][1000 genomes]
rs55698109	1.00[EUR][1000 genomes]
rs55700126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55732481	1.00[EUR][1000 genomes]
rs55765708	1.00[EUR][1000 genomes]
rs55769553	1.00[EUR][1000 genomes]
rs55898630	1.00[EUR][1000 genomes]
rs56144034	1.00[EUR][1000 genomes]
rs56261932	1.00[EUR][1000 genomes]
rs56402538	1.00[EUR][1000 genomes]
rs72751631	1.00[EUR][1000 genomes]
rs72751636	1.00[EUR][1000 genomes]
rs72751640	1.00[EUR][1000 genomes]
rs72751642	1.00[EUR][1000 genomes]
rs72751644	1.00[EUR][1000 genomes]
rs72751649	1.00[EUR][1000 genomes]
rs72751653	1.00[EUR][1000 genomes]
rs72751654	1.00[EUR][1000 genomes]
rs72751658	1.00[EUR][1000 genomes]
rs72751659	1.00[EUR][1000 genomes]
rs72751663	1.00[EUR][1000 genomes]
rs72751664	1.00[EUR][1000 genomes]
rs72751669	1.00[EUR][1000 genomes]
rs72751670	1.00[EUR][1000 genomes]
rs72751671	1.00[EUR][1000 genomes]
rs72751674	1.00[EUR][1000 genomes]
rs72751678	1.00[EUR][1000 genomes]
rs72751679	1.00[EUR][1000 genomes]
rs72751681	1.00[EUR][1000 genomes]
rs72751682	1.00[EUR][1000 genomes]
rs72751683	1.00[EUR][1000 genomes]
rs72751685	1.00[EUR][1000 genomes]
rs72751688	1.00[EUR][1000 genomes]
rs72751689	1.00[EUR][1000 genomes]
rs72751692	1.00[EUR][1000 genomes]
rs72751697	1.00[EUR][1000 genomes]
rs72751698	1.00[EUR][1000 genomes]
rs72751699	1.00[EUR][1000 genomes]
rs72751701	1.00[EUR][1000 genomes]
rs72753903	1.00[EUR][1000 genomes]
rs72753904	1.00[EUR][1000 genomes]
rs72753907	1.00[EUR][1000 genomes]
rs72753912	1.00[EUR][1000 genomes]
rs72753917	1.00[EUR][1000 genomes]
rs72753920	1.00[EUR][1000 genomes]
rs72753923	1.00[EUR][1000 genomes]
rs72753927	1.00[EUR][1000 genomes]
rs72753928	1.00[EUR][1000 genomes]
rs72753929	1.00[EUR][1000 genomes]
rs72753933	1.00[EUR][1000 genomes]
rs72753936	1.00[EUR][1000 genomes]
rs72753937	1.00[EUR][1000 genomes]
rs72753940	0.91[EUR][1000 genomes]
rs72753942	0.91[EUR][1000 genomes]
rs72753946	0.91[EUR][1000 genomes]
rs72753949	0.91[EUR][1000 genomes]
rs72753951	0.91[EUR][1000 genomes]
rs72753953	0.91[EUR][1000 genomes]
rs72753954	0.91[EUR][1000 genomes]
rs72753960	0.91[EUR][1000 genomes]
rs73439123	0.83[AFR][1000 genomes]
rs73443041	0.98[AFR][1000 genomes]
rs73443059	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription 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	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	43 gene(s)	inside rSNPs	diseases
11	nsv904450	chr15:83347193-83395340	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr15:83377000-83379000	Active TSS	Brain Cingulate Gyrus	brain
2	chr15:83377000-83379400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:83377400-83379400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:83377600-83378800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:83377600-83379000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:83377600-83379600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr15:83377800-83378800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:83377800-83378800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:83377800-83378800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:83377800-83378800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:83377800-83378800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr15:83377800-83378800	Active TSS	HSMMtube	muscle
13	chr15:83377800-83378800	Active TSS	NH-A	brain
14	chr15:83377800-83379000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:83377800-83379000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:83377800-83379000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83377800-83379000	Active TSS	Rectal Smooth Muscle	rectum
18	chr15:83377800-83379000	Active TSS	Osteobl	bone
19	chr15:83377800-83379200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:83377800-83379200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:83377800-83379200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:83377800-83379200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:83377800-83379200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:83377800-83379200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr15:83377800-83379200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:83377800-83379200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:83377800-83379200	Active TSS	Brain Angular Gyrus	brain
28	chr15:83377800-83379400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:83377800-83379400	Active TSS	HSMM	muscle
30	chr15:83377800-83379600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:83377800-83379600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:83378000-83378800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:83378000-83378800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:83378000-83378800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:83378000-83378800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr15:83378000-83378800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:83378000-83378800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:83378000-83378800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:83378000-83378800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:83378000-83378800	Active TSS	Fetal Brain Male	brain
41	chr15:83378000-83378800	Active TSS	Fetal Intestine Small	intestine
42	chr15:83378000-83378800	Active TSS	Left Ventricle	heart
43	chr15:83378000-83378800	Active TSS	Pancreas	Pancrea
44	chr15:83378000-83378800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr15:83378000-83378800	Active TSS	HMEC	breast
46	chr15:83378000-83378800	Active TSS	NHLF	lung
47	chr15:83378000-83379000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:83378000-83379000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr15:83378000-83379000	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr15:83378000-83379000	Active TSS	Aorta	Aorta

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