Variant report

Variant	nsv977869
Chromosome Location	chr15:50084876-50090745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:50087100-50087250	GM12874	blood:	n/a	n/a
2	GABPA	chr15:50086151-50086344	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr15:50086181-50086289	HepG2	liver:	n/a	n/a
4	GABPA	chr15:50086183-50086274	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr15:50086179-50086292	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:50085488-50085539	ProgFib	skin:	n/a	n/a
7	POLR2A	chr15:50086190-50086309	A549	lung:	n/a	n/a
8	POLR2A	chr15:50086092-50086305	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:50086104-50086302	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:50086196-50086282	A549	lung:	n/a	n/a
11	POLR2A	chr15:50086152-50086269	MCF-7	breast:	n/a	n/a
12	POLR2A	chr15:50086255-50086257	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:50086180-50086286	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:50088071-50088093	ProgFib	skin:	n/a	n/a
15	POLR2A	chr15:50088190-50088272	MCF-7	breast:	n/a	n/a
16	POLR2A	chr15:50086235-50086262	Gliobla	brain:	n/a	n/a
17	POLR2A	chr15:50090506-50090633	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:50086114-50086272	A549	lung:	n/a	n/a
19	POLR2A	chr15:50086145-50086310	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:50086144-50086349	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:50086081-50086461	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:50086171-50086323	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:50085997-50086275	ProgFib	skin:	n/a	n/a
24	POLR2A	chr15:50086116-50086327	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:50086117-50086346	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:50086174-50086368	A549	lung:	n/a	n/a
27	POLR2A	chr15:50086195-50086276	A549	lung:	n/a	n/a
28	POLR2A	chr15:50086240-50086251	MCF-7	breast:	n/a	n/a
29	POLR2A	chr15:50086002-50086276	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:50086198-50086268	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:50088125-50088201	ProgFib	skin:	n/a	n/a
32	POLR2A	chr15:50086186-50086340	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:50086089-50086269	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr15:50086070-50086333	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr15:50086116-50086318	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr15:50086169-50086308	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr15:50086064-50086339	Hela-S3	cervix:	n/a	n/a
38	USF1	chr15:50088634-50088766	HepG2	liver:	n/a	n/a
39	YY1	chr15:50086168-50086388	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:50086377-50086427	HepG2	liver:	n/a
2	chr15:50086377-50086427	PANC-1	pancreas:	n/a
3	chr15:50086377-50086427	HRCEpiC	kidney:	n/a
4	chr15:50086377-50086427	PFSK-1	brain:	n/a
5	chr15:50086377-50086427	SK-N-MC	brain:	n/a
6	chr15:50086377-50086427	GM12891	blood:	n/a
7	chr15:50086377-50086427	AG09309	skin:	n/a
8	chr15:50086377-50086427	HNPCEpiC	eye:	n/a
9	chr15:50086377-50086427	AG09319	gingival:	n/a
10	chr15:50086377-50086427	SK-N-SH	brain:	n/a
11	chr15:50086377-50086427	NT2-D1	testis:	n/a
12	chr15:50086377-50086427	A549	lung:	n/a
13	chr15:50086377-50086427	HMEC	breast:	n/a
14	chr15:50086377-50086427	AG04449	skin:	fetal
15	chr15:50086377-50086427	U87	brain:	n/a
16	chr15:50086377-50086427	ovcar-3	ovarian:	n/a
17	chr15:50086377-50086427	T-47D	breast:	n/a
18	chr15:50086377-50086427	NHDF-neo	bronchial:	n/a
19	chr15:50086377-50086427	MCF-7	breast:	n/a
20	chr15:50086377-50086427	GM06990	blood:	n/a
21	chr15:50086377-50086427	MCF10A-Er-Src	breast:	n/a
22	chr15:50086377-50086427	RPTEC	kidney:	n/a
23	chr15:50086377-50086427	LNCaP	prostate:	n/a
24	chr15:50086377-50086427	HCM	heart:	n/a
25	chr15:50086377-50086427	CMK	blood:	n/a
26	chr15:50086377-50086427	Jurkat	blood:	n/a
27	chr15:50086377-50086427	HEK293	kidney:	embryo
28	chr15:50086377-50086427	Hela-S3	cervix:	n/a
29	chr15:50086377-50086427	HIPEpiC	eye:	n/a
30	chr15:50086377-50086427	HCT-116	colon:	n/a
31	chr15:50086377-50086427	SK-N-SH_RA	brain:	n/a
32	chr15:50086377-50086427	GM19239	blood:	n/a
33	chr15:50086377-50086427	SAEC	small airway:	n/a
34	chr15:50086377-50086427	BE2_C	brain:	n/a
35	chr15:50086377-50086427	H1-hESC	embryonic stem cell:	embryo
36	chr15:50086377-50086427	HCF	heart:	n/a
37	chr15:50086377-50086427	ECC-1	luminal epithelium:	n/a
38	chr15:50086377-50086427	HRPEpiC	eye:	n/a
39	chr15:50086377-50086427	AoSMC	blood vessel:	n/a
40	chr15:50086377-50086427	SKMC	muscle:	n/a
41	chr15:50086377-50086427	NH-A	brain:	n/a
42	chr15:50086377-50086427	HCPEpiC	choroid plexus:	n/a
43	chr15:50086377-50086427	PrEC	prostate:	n/a
44	chr15:50086377-50086427	HRE	kidney:	n/a
45	chr15:50086377-50086427	Hepatocyte	liver:	n/a
46	chr15:50086377-50086427	K562	blood:	n/a
47	chr15:50086377-50086427	Caco-2	colon:	n/a
48	chr15:50086377-50086427	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:50086377-50086427	IMR90	lung:	fetal
50	chr15:50086377-50086427	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50084237..50085738-chr17:56736341..56738011,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD1-3	chr15:50086443-50088294	NONHSAT042390

No data

Variant related genes	Relation type
ENSG00000259388	TF binding region
ENSG00000259388	CpG island
ENSG00000202077	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183087791	chr15:50084885-50084886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553720753	chr15:50084913-50084914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557316337	chr15:50084922-50084923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111570384	chr15:50084947-50084948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367846992	chr15:50084957-50084958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537452030	chr15:50084959-50084960	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138375625	chr15:50084995-50084996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565749544	chr15:50084998-50084999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541607133	chr15:50085022-50085023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142194817	chr15:50085124-50085125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536330110	chr15:50085135-50085136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574772616	chr15:50085170-50085171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549598529	chr15:50085207-50085208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187905302	chr15:50085217-50085218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143129066	chr15:50085270-50085271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373269911	chr15:50085271-50085272	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564205196	chr15:50085274-50085275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576180138	chr15:50085288-50085289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148236319	chr15:50085289-50085290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62023969	chr15:50085345-50085346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2449860	chr15:50085348-50085349	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189699598	chr15:50085423-50085424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558722867	chr15:50085430-50085431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11070721	chr15:50085495-50085496	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550853964	chr15:50085514-50085515	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182678610	chr15:50085515-50085516	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537453349	chr15:50085573-50085574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188198247	chr15:50085588-50085589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570911463	chr15:50085704-50085705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373688364	chr15:50085724-50085725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534836227	chr15:50085734-50085735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184902545	chr15:50086014-50086015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187387136	chr15:50086032-50086033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192318257	chr15:50086079-50086080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184904003	chr15:50086112-50086113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150791298	chr15:50086184-50086185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529052188	chr15:50086211-50086212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550841532	chr15:50086247-50086248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562764860	chr15:50086272-50086273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533112850	chr15:50086273-50086274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs34757996	chr15:50086277-50086278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs386783880	chr15:50086278-50086279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200975399	chr15:50086279-50086280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535030952	chr15:50086296-50086297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs137893408	chr15:50086344-50086345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568215263	chr15:50086368-50086369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535646699	chr15:50086377-50086378	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs56941195	chr15:50086378-50086379	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575878142	chr15:50086395-50086396	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs189584884	chr15:50086402-50086403	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50090200-50091000	Enhancers	Ovary	ovary

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