Variant report

Variant	esv16583
Chromosome Location	chr15:83154386-83187155
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	chr15:83171986-83172256	GM12878	blood:	n/a	n/a
2	BATF	chr15:83182024-83182278	GM12878	blood:	n/a	n/a
3	BATF	chr15:83181094-83181867	GM12878	blood:	n/a	n/a
4	BATF	chr15:83181297-83181619	GM12878	blood:	n/a	n/a
5	BATF	chr15:83182960-83183552	GM12878	blood:	n/a	n/a
6	BATF	chr15:83180859-83181072	GM12878	blood:	n/a	n/a
7	BATF	chr15:83182516-83183551	GM12878	blood:	n/a	n/a
8	BATF	chr15:83163774-83163970	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:83181340-83181641	GM12878	blood:	n/a	chr15:83181408-83181417
10	BCL11A	chr15:83182491-83183483	GM12878	blood:	n/a	chr15:83182682-83182690
11	BCL11A	chr15:83182586-83183616	GM12878	blood:	n/a	chr15:83182682-83182690
12	BCL11A	chr15:83181264-83181632	GM12878	blood:	n/a	chr15:83181408-83181417
13	BCL11A	chr15:83154469-83154805	GM12878	blood:	n/a	n/a
14	BCL11A	chr15:83180872-83181314	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:83180870-83181260	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:83181992-83182357	GM12878	blood:	n/a	chr15:83182244-83182257
17	BHLHE40	chr15:83182634-83183177	HepG2	liver:	n/a	chr15:83182648-83182664
18	CBX3	chr15:83182641-83183089	K562	blood:	n/a	n/a
19	CTCF	chr15:83156895-83157150	K562	blood:	n/a	n/a
20	CTCF	chr15:83172412-83172495	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr15:83172063-83172195	K562	blood:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
22	CTCF	chr15:83172015-83172224	LNCaP	prostate:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
23	CTCF	chr15:83171753-83171880	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr15:83172367-83172494	GM13976	blood:	n/a	n/a
25	CTCF	chr15:83171988-83172192	Medullo	brain:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
26	CTCF	chr15:83171615-83171642	GM10266	blood:	n/a	n/a
27	CTCF	chr15:83172100-83172177	GM19239	blood:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
28	CTCF	chr15:83172011-83172206	LNCaP	prostate:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
29	CTCF	chr15:83172079-83172199	A549	lung:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
30	CTCF	chr15:83172103-83172183	GM12878	blood:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
31	CTCF	chr15:83182663-83183175	K562	blood:	n/a	n/a
32	CTCF	chr15:83172071-83172201	ProgFib	skin:	n/a	chr15:83172123-83172141 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
33	CTCF	chr15:83158400-83158824	A549	lung:	n/a	n/a
34	CTCF	chr15:83172081-83172216	MCF-7	breast:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
35	CTCF	chr15:83158419-83158773	K562	blood:	n/a	n/a
36	CTCF	chr15:83182492-83183523	A549	lung:	n/a	n/a
37	CTCF	chr15:83157057-83157125	GM13976	blood:	n/a	n/a
38	CTCF	chr15:83172074-83172228	Hela-S3	cervix:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
39	CTCF	chr15:83158510-83158760	K562	blood:	n/a	n/a
40	CTCF	chr15:83185045-83185116	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr15:83169580-83169730	NHEK	skin:	n/a	n/a
42	CTCF	chr15:83171704-83172370	A549	lung:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
43	CTCF	chr15:83172026-83172261	Gliobla	brain:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
44	CTCF	chr15:83172086-83172210	MCF-7	breast:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
45	CTCF	chr15:83169580-83169730	HMEC	breast:	n/a	n/a
46	CTCF	chr15:83158483-83158798	K562	blood:	n/a	n/a
47	CTCF	chr15:83172027-83172213	GM13977	blood:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
48	CTCF	chr15:83171845-83172259	K562	blood:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139
49	CTCF	chr15:83169580-83169730	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr15:83171890-83172283	A549	lung:	n/a	chr15:83172123-83172141 chr15:83172199-83172207 chr15:83172125-83172138 chr15:83172130-83172137 chr15:83172124-83172140 chr15:83172118-83172139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83166174-83166224	PFSK-1	brain:	n/a
2	chr15:83166174-83166224	HNPCEpiC	eye:	n/a
3	chr15:83166174-83166224	HRPEpiC	eye:	n/a
4	chr15:83166174-83166224	NT2-D1	testis:	n/a
5	chr15:83166174-83166224	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:83166174-83166224	BE2_C	brain:	n/a
7	chr15:83166174-83166224	AoSMC	blood vessel:	n/a
8	chr15:83166174-83166224	ovcar-3	ovarian:	n/a
9	chr15:83166174-83166224	PANC-1	pancreas:	n/a
10	chr15:83166174-83166224	K562	blood:	n/a
11	chr15:83166174-83166224	Hela-S3	cervix:	n/a
12	chr15:83166174-83166224	NHBE	bronchial:	n/a
13	chr15:83166174-83166224	HUVEC	blood vessel:	n/a
14	chr15:83166174-83166224	HMEC	breast:	n/a
15	chr15:83166174-83166224	GM19239	blood:	n/a
16	chr15:83166174-83166224	H1-hESC	embryonic stem cell:	embryo
17	chr15:83166174-83166224	Jurkat	blood:	n/a
18	chr15:83166174-83166224	AG09319	gingival:	n/a
19	chr15:83166174-83166224	A549	lung:	n/a
20	chr15:83166174-83166224	HCF	heart:	n/a
21	chr15:83166174-83166224	HL-60	blood:	n/a
22	chr15:83166174-83166224	Caco-2	colon:	n/a
23	chr15:83166174-83166224	GM12892	blood:	n/a
24	chr15:83166174-83166224	HIPEpiC	eye:	n/a
25	chr15:83166174-83166224	NHDF-neo	bronchial:	n/a
26	chr15:83166174-83166224	HCM	heart:	n/a
27	chr15:83166174-83166224	IMR90	lung:	fetal
28	chr15:83166174-83166224	HEEpiC	esophagus:	n/a
29	chr15:83166174-83166224	BJ	skin:	n/a
30	chr15:83166174-83166224	HCPEpiC	choroid plexus:	n/a
31	chr15:83166174-83166224	T-47D	breast:	n/a
32	chr15:83166174-83166224	AG04449	skin:	fetal
33	chr15:83166174-83166224	HAEpiC	amniotic membrane:	n/a
34	chr15:83166174-83166224	ECC-1	luminal epithelium:	n/a
35	chr15:83166174-83166224	RPTEC	kidney:	n/a
36	chr15:83166174-83166224	GM12891	blood:	n/a
37	chr15:83166174-83166224	MCF10A-Er-Src	breast:	n/a
38	chr15:83166174-83166224	GM06990	blood:	n/a
39	chr15:83166174-83166224	SKMC	muscle:	n/a
40	chr15:83166174-83166224	HRCEpiC	kidney:	n/a
41	chr15:83166174-83166224	NH-A	brain:	n/a
42	chr15:83166174-83166224	HRE	kidney:	n/a
43	chr15:83166174-83166224	SK-N-SH	brain:	n/a
44	chr15:83166174-83166224	CMK	blood:	n/a
45	chr15:83166174-83166224	U87	brain:	n/a
46	chr15:83166174-83166224	LNCaP	prostate:	n/a
47	chr15:83166174-83166224	NB4	blood:	n/a
48	chr15:83166174-83166224	HepG2	liver:	n/a
49	chr15:83166174-83166224	AG09309	skin:	n/a
50	chr15:83166174-83166224	ProgFib	skin:	n/a

Variant related genes	Relation type
GOLGA6L21P	TF binding region
ENSG00000259472	TF binding region
GOLGA6L21P	CpG island
ENSG00000259472	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs320873	chr15:83166213-83166214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs320874	chr15:83166236-83166237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572732158	chr15:83166239-83166240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183632836	chr15:83166242-83166243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2416621	chr15:83166262-83166263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560860889	chr15:83166311-83166312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529752245	chr15:83166320-83166321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543524098	chr15:83166337-83166338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28370998	chr15:83166409-83166410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185899430	chr15:83166431-83166432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532115134	chr15:83166445-83166446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28394040	chr15:83166475-83166476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374488878	chr15:83166476-83166477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145003308	chr15:83166478-83166479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565781500	chr15:83166479-83166480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528357273	chr15:83166503-83166504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556027624	chr15:83166529-83166530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573261704	chr15:83166531-83166532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548113662	chr15:83166561-83166562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373657919	chr15:83183745-83183746	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs375516779	chr15:83183751-83183752	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs540013291	chr15:83183965-83183966	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs561536758	chr15:83183972-83183973	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs551793667	chr15:83183983-83183984	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs185018922	chr15:83183986-83183987	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs544476447	chr15:83183988-83183989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs373364364	chr15:83184050-83184051	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83166200-83166600	Enhancers	Stomach Mucosa	stomach
2	chr15:83166200-83166600	Enhancers	HepG2	liver

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