Variant report

Variant	esv3514488
Chromosome Location	chr15:51199157-51199446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:51199157-51199872	HepG2	liver:	n/a	n/a
2	ATF2	chr15:51199053-51200228	GM12878	blood:	n/a	n/a
3	ATF2	chr15:51199022-51200255	GM12878	blood:	n/a	n/a
4	BATF	chr15:51199088-51199721	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:51199186-51199767	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:51199036-51199772	GM12878	blood:	n/a	n/a
7	BCL3	chr15:51199084-51199846	GM12878	blood:	n/a	n/a
8	BCL3	chr15:51199221-51199783	GM12878	blood:	n/a	n/a
9	BCLAF1	chr15:51199041-51201111	GM12878	blood:	n/a	chr15:51200874-51200883 chr15:51200101-51200109 chr15:51200458-51200471
10	BCLAF1	chr15:51199038-51201064	GM12878	blood:	n/a	chr15:51200874-51200883 chr15:51200101-51200109 chr15:51200458-51200471
11	BHLHE40	chr15:51199100-51201249	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:51199229-51199485	K562	blood:	n/a	n/a
13	BRCA1	chr15:51199207-51199783	GM12878	blood:	n/a	n/a
14	CBX3	chr15:51199071-51199493	K562	blood:	n/a	n/a
15	CEBPB	chr15:51199028-51200137	GM12878	blood:	n/a	n/a
16	CHD1	chr15:51199147-51201265	GM12878	blood:	n/a	chr15:51200811-51200820 chr15:51200723-51200732 chr15:51200561-51200568
17	CHD2	chr15:51199125-51199903	GM12878	blood:	n/a	n/a
18	CREB1	chr15:51199158-51201286	GM12878	blood:	n/a	n/a
19	CTCF	chr15:51199290-51201974	A549	lung:	n/a	chr15:51200799-51200808
20	CUX1	chr15:51199060-51200144	GM12878	blood:	n/a	n/a
21	E2F4	chr15:51199217-51199446	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr15:51199135-51199746	GM12878	blood:	n/a	n/a
23	E2F6	chr15:51199167-51199382	K562	blood:	n/a	n/a
24	E2F6	chr15:51199146-51199446	K562	blood:	n/a	n/a
25	EBF1	chr15:51199115-51201075	GM12878	blood:	n/a	n/a
26	ELF1	chr15:51199124-51199714	GM12878	blood:	n/a	n/a
27	ELK1	chr15:51199200-51199940	GM12878	blood:	n/a	n/a
28	EP300	chr15:51199162-51199486	GM12878	blood:	n/a	n/a
29	EP300	chr15:51199110-51201031	GM12878	blood:	n/a	chr15:51200138-51200152 chr15:51200873-51200882 chr15:51200447-51200463 chr15:51200454-51200470 chr15:51200460-51200476
30	EP300	chr15:51199153-51200235	GM12878	blood:	n/a	chr15:51200138-51200152
31	EP300	chr15:51198932-51201036	GM12878	blood:	n/a	chr15:51200138-51200152 chr15:51200873-51200882 chr15:51200447-51200463 chr15:51200454-51200470 chr15:51200460-51200476
32	FOXA2	chr15:51199120-51199383	HepG2	liver:	n/a	n/a
33	FOXM1	chr15:51199044-51199920	GM12878	blood:	n/a	n/a
34	FOXM1	chr15:51198859-51201162	GM12878	blood:	n/a	n/a
35	HCFC1	chr15:51198999-51201854	Hela-S3	cervix:	n/a	n/a
36	HEY1	chr15:51199206-51199498	HepG2	liver:	n/a	n/a
37	HEY1	chr15:51199133-51199619	HepG2	liver:	n/a	n/a
38	HNF4A	chr15:51199141-51199424	HepG2	liver:	n/a	n/a
39	HNF4G	chr15:51199100-51199381	HepG2	liver:	n/a	n/a
40	IKZF1	chr15:51199275-51200040	GM12878	blood:	n/a	n/a
41	IRF1	chr15:51199087-51199468	K562	blood:	n/a	n/a
42	IRF1	chr15:51199038-51199489	K562	blood:	n/a	n/a
43	IRF4	chr15:51199051-51199725	GM12878	blood:	n/a	n/a
44	IRF4	chr15:51199062-51199821	GM12878	blood:	n/a	n/a
45	JUN	chr15:51199404-51199529	K562	blood:	n/a	n/a
46	JUN	chr15:51199070-51201826	K562	blood:	n/a	n/a
47	MAFK	chr15:51199179-51199354	K562	blood:	n/a	n/a
48	MAX	chr15:51199053-51199693	HepG2	liver:	n/a	n/a
49	MAX	chr15:51199162-51199508	HepG2	liver:	n/a	n/a
50	MAX	chr15:51199105-51201256	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:51199395-51199445	LNCaP	prostate:	n/a
2	chr15:51199395-51199445	HNPCEpiC	eye:	n/a
3	chr15:51199395-51199445	SK-N-SH_RA	brain:	n/a
4	chr15:51199395-51199445	HMEC	breast:	n/a
5	chr15:51199395-51199445	ProgFib	skin:	n/a
6	chr15:51199395-51199445	GM06990	blood:	n/a
7	chr15:51199395-51199445	HUVEC	blood vessel:	n/a
8	chr15:51199395-51199445	HCF	heart:	n/a
9	chr15:51199395-51199445	GM12891	blood:	n/a
10	chr15:51199395-51199445	NHBE	bronchial:	n/a
11	chr15:51199395-51199445	CMK	blood:	n/a
12	chr15:51199395-51199445	BJ	skin:	n/a
13	chr15:51199395-51199445	HRE	kidney:	n/a
14	chr15:51199395-51199445	HEK293	kidney:	embryo
15	chr15:51199395-51199445	K562	blood:	n/a
16	chr15:51199395-51199445	HPAEpiC	pulmonary alveolar:	n/a
17	chr15:51199395-51199445	AG04449	skin:	fetal
18	chr15:51199395-51199445	U87	brain:	n/a
19	chr15:51199395-51199445	Jurkat	blood:	n/a
20	chr15:51199395-51199445	HRPEpiC	eye:	n/a
21	chr15:51199395-51199445	GM19239	blood:	n/a
22	chr15:51199395-51199445	HL-60	blood:	n/a
23	chr15:51199395-51199445	SKMC	muscle:	n/a
24	chr15:51199395-51199445	T-47D	breast:	n/a
25	chr15:51199395-51199445	A549	lung:	n/a
26	chr15:51199395-51199445	RPTEC	kidney:	n/a
27	chr15:51199395-51199445	AoSMC	blood vessel:	n/a
28	chr15:51199395-51199445	BE2_C	brain:	n/a
29	chr15:51199395-51199445	NH-A	brain:	n/a
30	chr15:51199395-51199445	NT2-D1	testis:	n/a
31	chr15:51199395-51199445	AG09319	gingival:	n/a
32	chr15:51199395-51199445	HAEpiC	amniotic membrane:	n/a
33	chr15:51199395-51199445	SAEC	small airway:	n/a
34	chr15:51199395-51199445	HepG2	liver:	n/a
35	chr15:51199395-51199445	PANC-1	pancreas:	n/a
36	chr15:51199395-51199445	ECC-1	luminal epithelium:	n/a
37	chr15:51199395-51199445	Caco-2	colon:	n/a
38	chr15:51199395-51199445	GM12878	blood:	n/a
39	chr15:51199395-51199445	SK-N-SH	brain:	n/a
40	chr15:51199395-51199445	HEEpiC	esophagus:	n/a
41	chr15:51199395-51199445	PFSK-1	brain:	n/a
42	chr15:51199395-51199445	HIPEpiC	eye:	n/a
43	chr15:51199395-51199445	PrEC	prostate:	n/a
44	chr15:51199395-51199445	HCPEpiC	choroid plexus:	n/a
45	chr15:51199395-51199445	GM12892	blood:	n/a
46	chr15:51199395-51199445	AG09309	skin:	n/a
47	chr15:51199395-51199445	SK-N-MC	brain:	n/a
48	chr15:51199395-51199445	NB4	blood:	n/a
49	chr15:51199395-51199445	HCM	heart:	n/a
50	chr15:51199395-51199445	NHDF-neo	bronchial:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51183066..51185706-chr15:51196494..51200802,3	K562	blood:
2	chr15:51191099..51192622-chr15:51197592..51200160,2	K562	blood:
3	chr15:50645553..50650972-chr15:51199033..51203961,11	MCF-7	breast:
4	chr15:51198585..51200191-chr20:47687011..47688512,2	K562	blood:
5	chr15:50977442..50979922-chr15:51198976..51201748,2	MCF-7	breast:
6	chr15:50647013..50649194-chr15:51198882..51202798,3	K562	blood:
7	chr15:50645261..50648746-chr15:51197475..51202828,11	MCF-7	breast:
8	chr15:51055794..51057333-chr15:51198910..51200716,2	K562	blood:
9	chr15:50645568..50648513-chr15:51198882..51201905,4	K562	blood:
10	chr15:50967384..50968440-chr15:51199299..51199841,3	K562	blood:
11	chr15:50977199..50979864-chr15:51198670..51201821,3	K562	blood:
12	chr15:51054845..51057333-chr15:51198137..51200716,3	K562	blood:
13	chr15:50977828..50980537-chr15:51197788..51202411,5	MCF-7	breast:
14	chr15:51190200..51192622-chr15:51197284..51200160,3	K562	blood:
15	chr15:50977199..50981459-chr15:51198510..51202863,6	K562	blood:
16	chr15:50966474..50968190-chr15:51199130..51200749,2	K562	blood:
17	chr15:51197121..51199959-chr15:51225911..51227445,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPPL2A.1-1	chr15:51199113-51200792	NONHSAT042443

No data

Variant related genes	Relation type
AP4E1	TF binding region
AP4E1	CpG island
ENSG00000138600	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000092439	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000243027	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116550059	chr15:51199179-51199180	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs566344303	chr15:51199212-51199213	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs534311617	chr15:51199215-51199216	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs536862022	chr15:51199249-51199250	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs182852051	chr15:51199285-51199286	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs3759806	chr15:51199287-51199288	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186071586	chr15:51199309-51199310	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs558367435	chr15:51199323-51199324	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs576459093	chr15:51199337-51199338	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs574405011	chr15:51199351-51199352	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs2614784	chr15:51199377-51199378	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12101535	chr15:51199395-51199396	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144831284	chr15:51199396-51199397	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs12050613	chr15:51199401-51199402	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs3759808	chr15:51199419-51199420	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51177800-51199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:51177800-51199600	Weak transcription	Ovary	ovary
3	chr15:51179000-51199200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:51183800-51199200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:51185800-51199800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:51187200-51199200	Weak transcription	Placenta	Placenta
7	chr15:51188400-51199200	Weak transcription	Fetal Lung	lung
8	chr15:51192000-51199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:51194200-51199200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:51194400-51199200	Weak transcription	Right Ventricle	heart
11	chr15:51194800-51200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:51195200-51199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:51195400-51199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:51195400-51199600	Weak transcription	Fetal Stomach	stomach
15	chr15:51195600-51199600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:51195800-51199200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:51196000-51199600	Weak transcription	Fetal Brain Female	brain
18	chr15:51196200-51199200	Weak transcription	HSMM	muscle
19	chr15:51196200-51199200	Weak transcription	HUVEC	blood vessel
20	chr15:51196800-51199200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:51197200-51199400	Weak transcription	Fetal Intestine Large	intestine
22	chr15:51197400-51199200	Weak transcription	NHDF-Ad	bronchial
23	chr15:51197600-51199200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:51197600-51199600	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:51198000-51199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:51198400-51199200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:51198600-51199200	Enhancers	Fetal Thymus	thymus
28	chr15:51198800-51199200	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:51198800-51199400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr15:51198800-51200000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr15:51199000-51199200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:51199000-51199200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:51199000-51199200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:51199000-51199200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:51199000-51199200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr15:51199000-51199200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr15:51199000-51199200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:51199000-51199200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:51199000-51199200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:51199000-51199200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr15:51199000-51199200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:51199000-51199200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:51199000-51199200	Enhancers	Adipose Nuclei	Adipose
44	chr15:51199000-51199200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:51199000-51199200	Enhancers	Colon Smooth Muscle	Colon
46	chr15:51199000-51199200	Active TSS	Duodenum Mucosa	Duodenum
47	chr15:51199000-51199200	Active TSS	Fetal Intestine Small	intestine
48	chr15:51199000-51199200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr15:51199000-51199200	Active TSS	Thymus	Thymus
50	chr15:51199000-51199200	Enhancers	A549	lung

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