Variant report

Variant	esv13479
Chromosome Location	chr15:82721003-82813540
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	chr15:82760349-82760667	GM12878	blood:	n/a	n/a
2	BATF	chr15:82803716-82803913	GM12878	blood:	n/a	n/a
3	BATF	chr15:82797938-82798973	GM12878	blood:	n/a	n/a
4	BATF	chr15:82810317-82810609	GM12878	blood:	n/a	n/a
5	BATF	chr15:82738636-82738859	GM12878	blood:	n/a	n/a
6	BATF	chr15:82796282-82796495	GM12878	blood:	n/a	n/a
7	BATF	chr15:82798382-82798974	GM12878	blood:	n/a	n/a
8	BATF	chr15:82810325-82810627	GM12878	blood:	n/a	n/a
9	BATF	chr15:82736991-82737190	GM12878	blood:	n/a	n/a
10	BATF	chr15:82745549-82745735	GM12878	blood:	n/a	n/a
11	BATF	chr15:82737006-82737208	GM12878	blood:	n/a	n/a
12	BATF	chr15:82787409-82787679	GM12878	blood:	n/a	n/a
13	BATF	chr15:82737447-82737720	GM12878	blood:	n/a	n/a
14	BATF	chr15:82732337-82732672	GM12878	blood:	n/a	n/a
15	BATF	chr15:82746325-82746541	GM12878	blood:	n/a	n/a
16	BATF	chr15:82777126-82777358	GM12878	blood:	n/a	n/a
17	BATF	chr15:82797446-82797700	GM12878	blood:	n/a	n/a
18	BATF	chr15:82796720-82797042	GM12878	blood:	n/a	n/a
19	BATF	chr15:82728062-82728346	GM12878	blood:	n/a	n/a
20	BATF	chr15:82752463-82752853	GM12878	blood:	n/a	n/a
21	BATF	chr15:82796517-82797290	GM12878	blood:	n/a	n/a
22	BATF	chr15:82728054-82728346	GM12878	blood:	n/a	n/a
23	BCL11A	chr15:82728063-82728248	GM12878	blood:	n/a	n/a
24	BCL11A	chr15:82753153-82753385	GM12878	blood:	n/a	chr15:82753334-82753343
25	BCL11A	chr15:82747045-82747256	GM12878	blood:	n/a	n/a
26	BCL11A	chr15:82796295-82796737	GM12878	blood:	n/a	n/a
27	BCL11A	chr15:82736992-82737222	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:82737462-82737889	GM12878	blood:	n/a	chr15:82737466-82737479 chr15:82737610-82737618
29	BCL11A	chr15:82803705-82804043	GM12878	blood:	n/a	n/a
30	BCL11A	chr15:82731693-82731906	GM12878	blood:	n/a	n/a
31	BCL11A	chr15:82807448-82807659	GM12878	blood:	n/a	n/a
32	BCL11A	chr15:82777876-82778212	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:82798008-82799038	GM12878	blood:	n/a	chr15:82798104-82798112
34	BCL11A	chr15:82728338-82728508	GM12878	blood:	n/a	n/a
35	BCL11A	chr15:82751957-82752318	GM12878	blood:	n/a	n/a
36	BCL11A	chr15:82738262-82738451	GM12878	blood:	n/a	n/a
37	BCL11A	chr15:82797414-82797779	GM12878	blood:	n/a	chr15:82797666-82797679
38	BCL11A	chr15:82737418-82737730	GM12878	blood:	n/a	chr15:82737466-82737479 chr15:82737610-82737618
39	BCL11A	chr15:82753050-82753333	GM12878	blood:	n/a	n/a
40	BCL11A	chr15:82796293-82796683	GM12878	blood:	n/a	n/a
41	BCL11A	chr15:82737122-82737380	GM12878	blood:	n/a	chr15:82737363-82737372
42	BCL11A	chr15:82760352-82760691	GM12878	blood:	n/a	n/a
43	BCL11A	chr15:82796687-82797055	GM12878	blood:	n/a	chr15:82796831-82796840
44	BCL11A	chr15:82810227-82810579	GM12878	blood:	n/a	n/a
45	BCL11A	chr15:82796763-82797064	GM12878	blood:	n/a	chr15:82796831-82796840
46	BCL11A	chr15:82775008-82775273	GM12878	blood:	n/a	chr15:82775172-82775181
47	BCL11A	chr15:82752482-82752776	GM12878	blood:	n/a	n/a
48	BCL11A	chr15:82727969-82728316	GM12878	blood:	n/a	n/a
49	BCL11A	chr15:82752433-82752845	GM12878	blood:	n/a	n/a
50	BCL11A	chr15:82810326-82810560	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA6L9-2	chr15:82724031-82724418	NONHSAT047782
2	lnc-RPS17-1	chr15:82770180-82770459	NONHSAT047792
3	lnc-GOLGA6L9-2	chr15:82722223-82722368	NONHSAT047782

Variant related genes	Relation type
UBE2Q2P6	TF binding region
ENSG00000221095	TF binding region
GOLGA6L9	TF binding region
CSPG4P8	TF binding region
GOLGA6L17P	TF binding region
RN7SL61P	TF binding region
ENSG00000255769	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs382083	chr15:82722023-82722024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62011794	chr15:82746833-82746834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62011795	chr15:82746861-82746862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs57408291	chr15:82747288-82747289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs57365233	chr15:82747347-82747348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62011796	chr15:82747372-82747373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370308391	chr15:82747946-82747947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367835589	chr15:82748389-82748390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370446628	chr15:82748466-82748467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373645980	chr15:82748594-82748595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530298542	chr15:82748642-82748643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550079251	chr15:82748644-82748645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567042755	chr15:82748646-82748647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587610735	chr15:82748647-82748648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs552909383	chr15:82748648-82748649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565679303	chr15:82748649-82748650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528135660	chr15:82748650-82748651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368031576	chr15:82748676-82748677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371492569	chr15:82748943-82748944	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs547907349	chr15:82749531-82749532	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs28428820	chr15:82749533-82749534	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs200993970	chr15:82749534-82749535	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs546364499	chr15:82749536-82749537	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs571447870	chr15:82749543-82749544	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs201870310	chr15:82749544-82749545	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs376885179	chr15:82749578-82749579	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs201306220	chr15:82749582-82749583	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs145591307	chr15:82749585-82749586	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs147455506	chr15:82749587-82749588	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs142404844	chr15:82749589-82749590	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs500675	chr15:82749706-82749707	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs62011797	chr15:82749707-82749708	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs28718668	chr15:82749722-82749723	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs28562840	chr15:82749889-82749890	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs3960099	chr15:82753618-82753619	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs62011802	chr15:82755348-82755349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74517117	chr15:82764725-82764726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111718296	chr15:82764733-82764734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62011829	chr15:82769516-82769517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs62011830	chr15:82769801-82769802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs698492	chr15:82775032-82775033	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs62012688	chr15:82801150-82801151	Inactive region	TF binding region	2 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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82764600-82764800	Enhancers	HSMM	muscle

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