Variant report

Variant	esv14041
Chromosome Location	chr15:83124600-83166202
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	chr15:83129049-83129439	GM12878	blood:	n/a	n/a
2	BATF	chr15:83153717-83153951	GM12878	blood:	n/a	n/a
3	BATF	chr15:83163774-83163970	GM12878	blood:	n/a	n/a
4	BATF	chr15:83136935-83137253	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:83129636-83129919	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:83128543-83128904	GM12878	blood:	n/a	n/a
7	BCL11A	chr15:83129019-83129431	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:83129739-83129971	GM12878	blood:	n/a	chr15:83129920-83129929
9	BCL11A	chr15:83136938-83137277	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:83151592-83151857	GM12878	blood:	n/a	chr15:83151756-83151765
11	BCL11A	chr15:83129068-83129362	GM12878	blood:	n/a	n/a
12	BCL11A	chr15:83154469-83154805	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:83137084-83137330	HepG2	liver:	n/a	n/a
14	CBX3	chr15:83128920-83129611	K562	blood:	n/a	n/a
15	CBX3	chr15:83129020-83129485	K562	blood:	n/a	n/a
16	CBX3	chr15:83124821-83125716	K562	blood:	n/a	n/a
17	CEBPD	chr15:83125892-83126471	K562	blood:	n/a	n/a
18	CTCF	chr15:83134516-83134627	GM10248	blood:	n/a	n/a
19	CTCF	chr15:83134284-83134619	A549	lung:	n/a	chr15:83134440-83134461
20	CTCF	chr15:83129082-83129451	K562	blood:	n/a	n/a
21	CTCF	chr15:83136931-83137272	K562	blood:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
22	CTCF	chr15:83136918-83136946	GM20000	blood:	n/a	n/a
23	CTCF	chr15:83145641-83146067	A549	lung:	n/a	n/a
24	CTCF	chr15:83136578-83136640	GM20000	blood:	n/a	n/a
25	CTCF	chr15:83128861-83129547	A549	lung:	n/a	n/a
26	CTCF	chr15:83137038-83137232	LNCaP	prostate:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
27	CTCF	chr15:83158419-83158773	K562	blood:	n/a	n/a
28	CTCF	chr15:83129048-83129387	A549	lung:	n/a	n/a
29	CTCF	chr15:83156895-83157150	K562	blood:	n/a	n/a
30	CTCF	chr15:83137021-83137262	LNCaP	prostate:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
31	CTCF	chr15:83158483-83158798	K562	blood:	n/a	n/a
32	CTCF	chr15:83156830-83157171	K562	blood:	n/a	n/a
33	CTCF	chr15:83145405-83146202	K562	blood:	n/a	n/a
34	CTCF	chr15:83134204-83134642	K562	blood:	n/a	chr15:83134440-83134461
35	CTCF	chr15:83124707-83125034	K562	blood:	n/a	n/a
36	CTCF	chr15:83134303-83134627	A549	lung:	n/a	chr15:83134440-83134461
37	CTCF	chr15:83158400-83158824	A549	lung:	n/a	n/a
38	CTCF	chr15:83129194-83129303	GM13976	blood:	n/a	n/a
39	CTCF	chr15:83136166-83136397	K562	blood:	n/a	n/a
40	CTCF	chr15:83129147-83129331	GM10248	blood:	n/a	n/a
41	CTCF	chr15:83158510-83158760	K562	blood:	n/a	n/a
42	CTCF	chr15:83137045-83137212	Kidney_OC	kidney:	n/a	chr15:83137138-83137154 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
43	CTCF	chr15:83145465-83145628	K562	blood:	n/a	n/a
44	CTCF	chr15:83129216-83129296	GM13977	blood:	n/a	n/a
45	CTCF	chr15:83157057-83157125	GM13976	blood:	n/a	n/a
46	CTCF	chr15:83145708-83146009	K562	blood:	n/a	n/a
47	CTCF	chr15:83134285-83134599	K562	blood:	n/a	chr15:83134440-83134461
48	CTCF	chr15:83136906-83137334	K562	blood:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
49	CTCF	chr15:83136906-83137306	K562	blood:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160
50	CTCF	chr15:83136742-83137449	A549	lung:	n/a	chr15:83137138-83137154 chr15:83137044-83137062 chr15:83137137-83137150 chr15:83137140-83137149 chr15:83137140-83137153 chr15:83137137-83137155 chr15:83137139-83137160

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83166174-83166224	HEK293	kidney:	embryo
2	chr15:83166174-83166224	HRCEpiC	kidney:	n/a
3	chr15:83166174-83166224	HCT-116	colon:	n/a
4	chr15:83166174-83166224	ProgFib	skin:	n/a
5	chr15:83166174-83166224	AG09319	gingival:	n/a
6	chr15:83166174-83166224	NH-A	brain:	n/a
7	chr15:83166174-83166224	MCF-7	breast:	n/a
8	chr15:83166174-83166224	A549	lung:	n/a
9	chr15:83166174-83166224	NHDF-neo	bronchial:	n/a
10	chr15:83166174-83166224	GM12878	blood:	n/a
11	chr15:83166174-83166224	HUVEC	blood vessel:	n/a
12	chr15:83166174-83166224	AoSMC	blood vessel:	n/a
13	chr15:83166174-83166224	HIPEpiC	eye:	n/a
14	chr15:83166174-83166224	H1-hESC	embryonic stem cell:	embryo
15	chr15:83166174-83166224	AG04449	skin:	fetal
16	chr15:83166174-83166224	PFSK-1	brain:	n/a
17	chr15:83166174-83166224	IMR90	lung:	fetal
18	chr15:83166174-83166224	HCF	heart:	n/a
19	chr15:83166174-83166224	HepG2	liver:	n/a
20	chr15:83166174-83166224	SKMC	muscle:	n/a
21	chr15:83166174-83166224	Hela-S3	cervix:	n/a
22	chr15:83166174-83166224	U87	brain:	n/a
23	chr15:83166174-83166224	NHBE	bronchial:	n/a
24	chr15:83166174-83166224	GM12892	blood:	n/a
25	chr15:83166174-83166224	HNPCEpiC	eye:	n/a
26	chr15:83166174-83166224	T-47D	breast:	n/a
27	chr15:83166174-83166224	SAEC	small airway:	n/a
28	chr15:83166174-83166224	GM19239	blood:	n/a
29	chr15:83166174-83166224	Hepatocyte	liver:	n/a
30	chr15:83166174-83166224	NT2-D1	testis:	n/a
31	chr15:83166174-83166224	PANC-1	pancreas:	n/a
32	chr15:83166174-83166224	HL-60	blood:	n/a
33	chr15:83166174-83166224	HEEpiC	esophagus:	n/a
34	chr15:83166174-83166224	Caco-2	colon:	n/a
35	chr15:83166174-83166224	SK-N-SH_RA	brain:	n/a
36	chr15:83166174-83166224	LNCaP	prostate:	n/a
37	chr15:83166174-83166224	HAEpiC	amniotic membrane:	n/a
38	chr15:83166174-83166224	GM12891	blood:	n/a
39	chr15:83166174-83166224	SK-N-SH	brain:	n/a
40	chr15:83166174-83166224	AG04450	lung:	fetal
41	chr15:83166174-83166224	HRPEpiC	eye:	n/a
42	chr15:83166174-83166224	PrEC	prostate:	n/a
43	chr15:83166174-83166224	AG09309	skin:	n/a
44	chr15:83166174-83166224	NB4	blood:	n/a
45	chr15:83166174-83166224	HMEC	breast:	n/a
46	chr15:83166174-83166224	MCF10A-Er-Src	breast:	n/a
47	chr15:83166174-83166224	GM06990	blood:	n/a
48	chr15:83166174-83166224	SK-N-MC	brain:	n/a
49	chr15:83166174-83166224	AG10803	skin:	n/a
50	chr15:83166174-83166224	BE2_C	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS17L-1	chr15:83146764-83147043	NONHSAT047830

Variant related genes	Relation type
RPL9P8	TF binding region
RN7SL410P	TF binding region
CSPG4P10	TF binding region
ENSG00000259472	TF binding region
ENSG00000221517	TF binding region
RPL9P8	CpG island
RN7SL410P	CpG island
CSPG4P10	CpG island
ENSG00000259472	CpG island
ENSG00000221517	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200907280	chr15:83126115-83126116	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs145104912	chr15:83126158-83126159	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs139440155	chr15:83126169-83126170	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
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	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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