Variant report

Variant	esv1812622
Chromosome Location	chr15:82644128-82679305
allele	n/a
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	BATF	chr15:82649965-82650226	GM12878	blood:	n/a	n/a
2	BATF	chr15:82646649-82647397	GM12878	blood:	n/a	n/a
3	BATF	chr15:82673713-82673926	GM12878	blood:	n/a	n/a
4	BATF	chr15:82648537-82649104	GM12878	blood:	n/a	n/a
5	BATF	chr15:82647923-82648177	GM12878	blood:	n/a	n/a
6	BATF	chr15:82657920-82658224	GM12878	blood:	n/a	n/a
7	BATF	chr15:82649126-82649339	GM12878	blood:	n/a	n/a
8	BATF	chr15:82673641-82673955	GM12878	blood:	n/a	n/a
9	BATF	chr15:82646624-82647685	GM12878	blood:	n/a	n/a
10	BATF	chr15:82648579-82648901	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:82673677-82674076	GM12878	blood:	n/a	n/a
12	BCL11A	chr15:82673757-82674014	GM12878	blood:	n/a	n/a
13	BCL11A	chr15:82648566-82648934	GM12878	blood:	n/a	chr15:82648816-82648825
14	BCL11A	chr15:82648513-82648858	GM12878	blood:	n/a	chr15:82648816-82648825
15	BCL11A	chr15:82658040-82658210	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:82647877-82648123	GM12878	blood:	n/a	chr15:82647979-82647992
17	BCL11A	chr15:82649051-82649326	GM12878	blood:	n/a	n/a
18	BCL11A	chr15:82646718-82647599	GM12878	blood:	n/a	chr15:82647546-82647554
19	BCL11A	chr15:82646585-82647615	GM12878	blood:	n/a	chr15:82647546-82647554
20	BCL11A	chr15:82647844-82648211	GM12878	blood:	n/a	chr15:82647979-82647992
21	BCL11A	chr15:82648938-82649328	GM12878	blood:	n/a	n/a
22	BHLHE40	chr15:82647024-82647567	HepG2	liver:	n/a	n/a
23	BHLHE40	chr15:82649314-82649588	HepG2	liver:	n/a	n/a
24	CTCF	chr15:82657579-82658607	A549	lung:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
25	CTCF	chr15:82671735-82672155	A549	lung:	n/a	n/a
26	CTCF	chr15:82658340-82658384	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr15:82660000-82660150	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr15:82671750-82672141	K562	blood:	n/a	n/a
29	CTCF	chr15:82657820-82657970	GM12873	blood:	n/a	n/a
30	CTCF	chr15:82671710-82672011	A549	lung:	n/a	n/a
31	CTCF	chr15:82671907-82672003	Gliobla	brain:	n/a	n/a
32	CTCF	chr15:82657998-82658222	GM10266	blood:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
33	CTCF	chr15:82658275-82658283	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr15:82657929-82658253	Spleen_OC	spleen:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
35	CTCF	chr15:82657889-82658215	K562	blood:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
36	CTCF	chr15:82658017-82658181	ProgFib	skin:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
37	CTCF	chr15:82657765-82658506	A549	lung:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
38	CTCF	chr15:82658005-82658188	NHEK	skin:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
39	CTCF	chr15:82647031-82647572	K562	blood:	n/a	chr15:82647341-82647350
40	CTCF	chr15:82671635-82672119	A549	lung:	n/a	n/a
41	CTCF	chr15:82657867-82658325	A549	lung:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
42	CTCF	chr15:82658028-82658177	HepG2	liver:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
43	CTCF	chr15:82658010-82658209	Hela-S3	cervix:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
44	CTCF	chr15:82657982-82658213	Gliobla	brain:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
45	CTCF	chr15:82657974-82658248	Pancreas_OC	pancreas:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
46	CTCF	chr15:82660040-82660190	HMEC	breast:	n/a	n/a
47	CTCF	chr15:82657990-82658224	MCF-7	breast:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
48	CTCF	chr15:82657972-82658222	LNCaP	prostate:	n/a	chr15:82658038-82658046 chr15:82658105-82658121 chr15:82658107-82658120 chr15:82658108-82658115 chr15:82658104-82658122 chr15:82658106-82658127
49	CTCF	chr15:82657824-82657870	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr15:82671763-82672079	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82647396-82647446	MCF10A-Er-Src	breast:	n/a
2	chr15:82647396-82647446	SAEC	small airway:	n/a
3	chr15:82647396-82647446	HMEC	breast:	n/a
4	chr15:82647396-82647446	PANC-1	pancreas:	n/a
5	chr15:82647396-82647446	Jurkat	blood:	n/a
6	chr15:82647396-82647446	GM19239	blood:	n/a
7	chr15:82647396-82647446	HNPCEpiC	eye:	n/a
8	chr15:82647396-82647446	HRCEpiC	kidney:	n/a
9	chr15:82647396-82647446	T-47D	breast:	n/a
10	chr15:82647396-82647446	AG04450	lung:	fetal
11	chr15:82647396-82647446	HCT-116	colon:	n/a
12	chr15:82647396-82647446	SK-N-MC	brain:	n/a
13	chr15:82647396-82647446	PrEC	prostate:	n/a
14	chr15:82647396-82647446	GM12892	blood:	n/a
15	chr15:82647396-82647446	IMR90	lung:	fetal
16	chr15:82647396-82647446	Hepatocyte	liver:	n/a
17	chr15:82647396-82647446	NH-A	brain:	n/a
18	chr15:82647396-82647446	A549	lung:	n/a
19	chr15:82647396-82647446	BE2_C	brain:	n/a
20	chr15:82647396-82647446	NB4	blood:	n/a
21	chr15:82647396-82647446	HUVEC	blood vessel:	n/a
22	chr15:82647396-82647446	HEEpiC	esophagus:	n/a
23	chr15:82647396-82647446	U87	brain:	n/a
24	chr15:82647396-82647446	HIPEpiC	eye:	n/a
25	chr15:82647396-82647446	ProgFib	skin:	n/a
26	chr15:82647396-82647446	HCF	heart:	n/a
27	chr15:82647396-82647446	AoSMC	blood vessel:	n/a
28	chr15:82647396-82647446	Hela-S3	cervix:	n/a
29	chr15:82647396-82647446	HAEpiC	amniotic membrane:	n/a
30	chr15:82647396-82647446	AG09319	gingival:	n/a
31	chr15:82647396-82647446	HRE	kidney:	n/a
32	chr15:82647396-82647446	AG09309	skin:	n/a
33	chr15:82647396-82647446	ECC-1	luminal epithelium:	n/a
34	chr15:82647396-82647446	HL-60	blood:	n/a
35	chr15:82647396-82647446	H1-hESC	embryonic stem cell:	embryo
36	chr15:82647396-82647446	MCF-7	breast:	n/a
37	chr15:82647396-82647446	RPTEC	kidney:	n/a
38	chr15:82647396-82647446	AG04449	skin:	fetal
39	chr15:82647396-82647446	BJ	skin:	n/a
40	chr15:82647396-82647446	Caco-2	colon:	n/a
41	chr15:82647396-82647446	K562	blood:	n/a
42	chr15:82647396-82647446	HEK293	kidney:	embryo
43	chr15:82647396-82647446	GM12878	blood:	n/a
44	chr15:82647396-82647446	HCPEpiC	choroid plexus:	n/a
45	chr15:82647396-82647446	GM06990	blood:	n/a
46	chr15:82647396-82647446	SK-N-SH_RA	brain:	n/a
47	chr15:82647396-82647446	CMK	blood:	n/a
48	chr15:82647396-82647446	AG10803	skin:	n/a
49	chr15:82647396-82647446	HPAEpiC	pulmonary alveolar:	n/a
50	chr15:82647396-82647446	NHBE	bronchial:	n/a

Variant related genes	Relation type
UBE2Q2P6	TF binding region
GOLGA6L10	TF binding region
UBE2Q2P2	TF binding region
UBE2Q2P6	CpG island
GOLGA6L10	CpG island
UBE2Q2P2	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs468718	chr15:82644518-82644519	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs3874286	chr15:82644574-82644575	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs377272328	chr15:82645394-82645395	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs7402612	chr15:82646115-82646116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs187150538	chr15:82646245-82646246	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs577239593	chr15:82646248-82646249	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs546295973	chr15:82646251-82646252	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs369967647	chr15:82646491-82646492	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs371717195	chr15:82646504-82646505	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs227538	chr15:82646950-82646951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559944491	chr15:82647351-82647352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528697974	chr15:82647353-82647354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62010149	chr15:82648123-82648124	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199521677	chr15:82648210-82648211	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577820372	chr15:82648285-82648286	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192121199	chr15:82648293-82648294	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370103736	chr15:82648491-82648492	Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578251473	chr15:82648511-82648512	Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201111611	chr15:82665339-82665340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs3874301	chr15:82665728-82665729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs376574103	chr15:82668344-82668345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562498785	chr15:82668535-82668536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs551375981	chr15:82668561-82668562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571549340	chr15:82668574-82668575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62011076	chr15:82668580-82668581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs539818401	chr15:82668622-82668623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82648000-82648200	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr15:82648000-82648400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:82648000-82648400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr15:82648000-82648400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:82648000-82648600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr15:82648000-82648600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:82648000-82648600	Active TSS	Fetal Brain Female	brain
8	chr15:82648000-82648600	Active TSS	Right Atrium	heart
9	chr15:82648000-82648600	Active TSS	Hela-S3	cervix
10	chr15:82648200-82648400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr15:82648200-82648600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:82648200-82648600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr15:82648200-82648600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:82648200-82648600	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr15:82648200-82648600	Active TSS	NHEK	skin
16	chr15:82648400-82648600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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