Variant report

Variant	nsv520904
Chromosome Location	chr5:12263215-12310717
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	chr5:12265560-12265791	GM12878	blood:	n/a	n/a
2	BATF	chr5:12265561-12265794	GM12878	blood:	n/a	n/a
3	BHLHE40	chr5:12277952-12278230	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:12298922-12299027	HepG2	liver:	n/a	chr5:12298924-12298937 chr5:12298925-12298936 chr5:12298924-12298937 chr5:12298924-12298935 chr5:12298924-12298937
5	CEBPB	chr5:12293040-12293048	K562	blood:	n/a	n/a
6	CEBPB	chr5:12292775-12293134	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr5:12264170-12264430	HepG2	liver:	n/a	chr5:12264224-12264235
8	CEBPB	chr5:12295193-12295207	K562	blood:	n/a	n/a
9	CEBPB	chr5:12284617-12284893	HepG2	liver:	n/a	chr5:12284748-12284757 chr5:12284746-12284757 chr5:12284747-12284758
10	CEBPB	chr5:12288162-12288457	HepG2	liver:	n/a	chr5:12288297-12288308 chr5:12288295-12288306 chr5:12288297-12288306
11	CEBPB	chr5:12298781-12298968	K562	blood:	n/a	chr5:12298924-12298937 chr5:12298823-12298834 chr5:12298925-12298936 chr5:12298924-12298937 chr5:12298924-12298935 chr5:12298821-12298834 chr5:12298924-12298937
12	CHD2	chr5:12292801-12293019	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr5:12277707-12278386	GM12878	blood:	n/a	n/a
14	CTCF	chr5:12292840-12292990	HMF	breast:	n/a	n/a
15	CTCF	chr5:12292800-12292950	GM12873	blood:	n/a	n/a
16	CTCF	chr5:12272660-12272810	Hela-S3	cervix:	n/a	chr5:12272730-12272748
17	CTCF	chr5:12292830-12292983	GM12878	blood:	n/a	n/a
18	CTCF	chr5:12292880-12293030	GM12872	blood:	n/a	n/a
19	CTCF	chr5:12292840-12292990	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr5:12272620-12272770	MCF-7	breast:	n/a	chr5:12272730-12272748
21	CTCF	chr5:12292623-12292680	Medullo	brain:	n/a	n/a
22	CTCF	chr5:12292768-12293033	LNCaP	prostate:	n/a	n/a
23	CTCF	chr5:12292800-12292950	K562	blood:	n/a	n/a
24	CTCF	chr5:12292819-12293020	K562	blood:	n/a	n/a
25	CTCF	chr5:12292820-12292970	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr5:12299600-12299750	GM12872	blood:	n/a	n/a
27	CTCF	chr5:12292860-12293010	GM06990	blood:	n/a	n/a
28	CTCF	chr5:12292920-12293070	HMEC	breast:	n/a	n/a
29	CTCF	chr5:12292880-12293030	GM06990	blood:	n/a	n/a
30	CTCF	chr5:12272640-12272790	HMEC	breast:	n/a	chr5:12272730-12272748
31	CTCF	chr5:12292786-12293003	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr5:12292820-12292970	SAEC	small airway:	n/a	n/a
33	CTCF	chr5:12272623-12272788	Gliobla	brain:	n/a	chr5:12272730-12272748
34	CTCF	chr5:12292880-12293030	HEK293	kidney:	n/a	n/a
35	CTCF	chr5:12292801-12293018	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:12292860-12293010	GM12870	blood:	n/a	n/a
37	CTCF	chr5:12292900-12293050	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:12292880-12293030	GM12873	blood:	n/a	n/a
39	CTCF	chr5:12272594-12272780	MCF-7	breast:	n/a	chr5:12272730-12272748
40	CTCF	chr5:12292860-12293010	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:12292860-12293010	GM12865	blood:	n/a	n/a
42	CTCF	chr5:12292746-12293099	GM12878	blood:	n/a	n/a
43	CTCF	chr5:12292640-12293188	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr5:12292780-12292930	GM12871	blood:	n/a	n/a
45	CTCF	chr5:12292860-12293010	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr5:12272600-12272752	T-47D	breast:	n/a	chr5:12272730-12272748
47	CTCF	chr5:12292880-12293030	HPF	lung:	n/a	n/a
48	CTCF	chr5:12292820-12292970	GM12868	blood:	n/a	n/a
49	CTCF	chr5:12272620-12272770	SK-N-SH_RA	brain:	n/a	chr5:12272730-12272748
50	CTCF	chr5:12292860-12293010	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:12261529..12263665-chr5:12266219..12268027,2	MCF-7	breast:
2	chr5:12299671..12303215-chr5:12303508..12306059,3	MCF-7	breast:
3	chr5:12099951..12101118-chr5:12272149..12273158,7	MCF-7	breast:
4	chr5:12292464..12293235-chr5:12598697..12599332,3	MCF-7	breast:
5	chr5:12284837..12287106-chr5:12292943..12295219,2	MCF-7	breast:
6	chr5:12272244..12273131-chr5:12803955..12804598,2	MCF-7	breast:
7	chr5:12292338..12293040-chr5:12945678..12946232,2	MCF-7	breast:
8	chr5:11267350..11268062-chr5:12272245..12273088,2	MCF-7	breast:
9	chr5:12299671..12303215-chr5:12303508..12306059,3	MCF-7	breast:
10	chr5:12275652..12278042-chr5:12282304..12284340,2	K562	blood:
11	chr5:12292436..12293333-chr5:13478862..13479446,3	MCF-7	breast:
12	chr5:12275652..12278042-chr5:12282304..12284340,2	K562	blood:
13	chr5:12284837..12287106-chr5:12292943..12295219,2	MCF-7	breast:
14	chr5:12023498..12024457-chr5:12272301..12272950,2	MCF-7	breast:
15	chr5:12261529..12263665-chr5:12266219..12268027,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-679P	TF binding region

Extended variants
information (count: 396 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534914439	chr5:12271003-12271004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78115822	chr5:12271005-12271006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182024751	chr5:12271006-12271007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542514213	chr5:12271032-12271033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539167550	chr5:12271044-12271045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557788460	chr5:12271063-12271064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576154595	chr5:12271087-12271088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10054484	chr5:12271190-12271191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73059377	chr5:12271218-12271219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529263553	chr5:12271227-12271228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138646838	chr5:12271295-12271296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115571831	chr5:12271307-12271308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533098793	chr5:12271353-12271354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565135356	chr5:12271364-12271365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563791980	chr5:12271380-12271381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74670331	chr5:12274208-12274209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142209871	chr5:12274232-12274233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201759894	chr5:12274252-12274253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550501961	chr5:12274282-12274283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146140179	chr5:12274303-12274304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536071195	chr5:12274307-12274308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369441602	chr5:12274324-12274325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114255433	chr5:12274355-12274356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572918798	chr5:12274364-12274365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115193017	chr5:12274423-12274424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373688277	chr5:12274510-12274511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558737577	chr5:12274522-12274523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115148524	chr5:12274544-12274545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13183563	chr5:12274553-12274554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13183546	chr5:12274568-12274569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563348587	chr5:12274597-12274598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549985630	chr5:12277008-12277009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561831081	chr5:12277040-12277041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529389775	chr5:12277094-12277095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9312798	chr5:12277112-12277113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547821699	chr5:12277156-12277157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565948281	chr5:12277184-12277185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553407776	chr5:12277188-12277189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539809705	chr5:12277226-12277227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551702127	chr5:12277232-12277233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146365839	chr5:12277260-12277261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114958561	chr5:12277262-12277263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139737786	chr5:12277268-12277269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80231705	chr5:12277298-12277299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555565723	chr5:12277299-12277300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150067049	chr5:12277335-12277336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190609917	chr5:12277471-12277472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567803578	chr5:12277472-12277473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145173587	chr5:12277537-12277538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553823331	chr5:12277551-12277552	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12271000-12271400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr5:12274200-12274600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:12277000-12278800	Enhancers	Dnd41	blood
4	chr5:12284000-12284600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:12292400-12292800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:12292600-12292800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:12292800-12293200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:12292800-12293800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:12293200-12294800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr5:12293200-12295400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr5:12293800-12295400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr5:12294000-12295200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr5:12294200-12294600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr5:12299200-12299400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:12299400-12299600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:12299600-12300000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:12300000-12300400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:12300400-12304600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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