Variant report

Variant	nsv427710
Chromosome Location	chr5:12034304-12208440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12063386..12065560-chr5:12066303..12068049,2	MCF-7	breast:
2	chr5:12103918..12106278-chr5:12109691..12111309,2	MCF-7	breast:
3	chr5:12068782..12071225-chr5:12098789..12100875,2	MCF-7	breast:
4	chr5:12109202..12110069-chr5:16588549..16589239,2	MCF-7	breast:
5	chr5:12116824..12118928-chr5:12119709..12122179,2	MCF-7	breast:
6	chr5:12044606..12047204-chr5:12049835..12052783,2	MCF-7	breast:
7	chr5:12142235..12143876-chr5:12151609..12153239,2	MCF-7	breast:
8	chr5:12059428..12061459-chr5:12097650..12100183,2	MCF-7	breast:
9	chr5:12061501..12063659-chr5:12080457..12083041,2	MCF-7	breast:
10	chr5:12139069..12142068-chr5:12143748..12145946,2	MCF-7	breast:
11	chr5:12114812..12116805-chr5:12117665..12119923,2	MCF-7	breast:
12	chr5:12099951..12101118-chr5:12272149..12273158,7	MCF-7	breast:
13	chr5:12070699..12073364-chr5:12078901..12080550,2	MCF-7	breast:
14	chr5:12114812..12116805-chr5:12117665..12119923,2	MCF-7	breast:
15	chr5:12061501..12063659-chr5:12080457..12083041,2	MCF-7	breast:
16	chr5:12163951..12166758-chr5:12177328..12180114,2	MCF-7	breast:
17	chr5:12063386..12065560-chr5:12066303..12068049,2	MCF-7	breast:
18	chr5:12139069..12142068-chr5:12143748..12145946,2	MCF-7	breast:
19	chr5:12174934..12177905-chr5:12178923..12181158,2	MCF-7	breast:
20	chr5:12070699..12073364-chr5:12078901..12080550,2	MCF-7	breast:
21	chr5:12165801..12168433-chr5:12169340..12171868,2	MCF-7	breast:
22	chr5:12044606..12047204-chr5:12049835..12052783,2	MCF-7	breast:
23	chr5:12059428..12061459-chr5:12097650..12100183,2	MCF-7	breast:
24	chr5:12103918..12106278-chr5:12109691..12111309,2	MCF-7	breast:
25	chr5:12165801..12168433-chr5:12169340..12171868,2	MCF-7	breast:
26	chr5:12068782..12071225-chr5:12098789..12100875,2	MCF-7	breast:
27	chr5:12116824..12118928-chr5:12119709..12122179,2	MCF-7	breast:
28	chr5:12142235..12143876-chr5:12151609..12153239,2	MCF-7	breast:
29	chr5:12174934..12177905-chr5:12178923..12181158,2	MCF-7	breast:
30	chr5:12163951..12166758-chr5:12177328..12180114,2	MCF-7	breast:

No data

Extended variants
information (count: 1271 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184023053	chr5:12056632-12056633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142631129	chr5:12056679-12056680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188524189	chr5:12056723-12056724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs151005573	chr5:12056737-12056738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7732848	chr5:12056739-12056740	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570729089	chr5:12056749-12056750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538533617	chr5:12056754-12056755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532749465	chr5:12056776-12056777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs34120980	chr5:12056784-12056785	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115019078	chr5:12056801-12056802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13185447	chr5:12056802-12056803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13185612	chr5:12056837-12056838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193071453	chr5:12056890-12056891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55813664	chr5:12056923-12056924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150086359	chr5:12056926-12056927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576725025	chr5:12056954-12056955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113619479	chr5:12056957-12056958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76312698	chr5:12056963-12056964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138600508	chr5:12056997-12056998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74962734	chr5:12057005-12057006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75435355	chr5:12057011-12057012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76079765	chr5:12057018-12057019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562689039	chr5:12057023-12057024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76933510	chr5:12057027-12057028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74419756	chr5:12057043-12057044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112820424	chr5:12057057-12057058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371710034	chr5:12057063-12057064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183310200	chr5:12057074-12057075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56253242	chr5:12057075-12057076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574764054	chr5:12057077-12057078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35889218	chr5:12057082-12057083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75334449	chr5:12057101-12057102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80330519	chr5:12057102-12057103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71599592	chr5:12057124-12057125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71599594	chr5:12057136-12057137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71599591	chr5:12057139-12057140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546272293	chr5:12057149-12057150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71599600	chr5:12057165-12057166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71599593	chr5:12057171-12057172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71599602	chr5:12057178-12057179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74339791	chr5:12057197-12057198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71599596	chr5:12057200-12057201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549943920	chr5:12070432-12070433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576946944	chr5:12070442-12070443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568624437	chr5:12070646-12070647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541104553	chr5:12070664-12070665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536316658	chr5:12070672-12070673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547879734	chr5:12070673-12070674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149674196	chr5:12070678-12070679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533543739	chr5:12070711-12070712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
renal disease	17924346	CNVD
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
Melanoma	22183965	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12056600-12056800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:12056800-12057200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:12070400-12070600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:12070600-12078600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:12071800-12072600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:12072200-12073000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:12072600-12073000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:12072600-12073000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:12072600-12073000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:12073000-12074000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:12078400-12079000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:12078600-12078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:12081200-12081600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:12095600-12096200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:12099400-12099600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr5:12099600-12099800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:12102000-12102400	Enhancers	Fetal Intestine Large	intestine
18	chr5:12102600-12103000	Enhancers	Fetal Brain Male	brain
19	chr5:12108600-12112800	Enhancers	Fetal Intestine Large	intestine
20	chr5:12109200-12111000	Enhancers	Liver	Liver
21	chr5:12109200-12111600	Enhancers	Fetal Intestine Small	intestine
22	chr5:12109400-12109600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:12109400-12109800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:12109600-12109800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:12110400-12110800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:12110400-12111200	Enhancers	Pancreas	Pancrea
27	chr5:12110400-12111200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:12110800-12111000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr5:12111000-12111400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:12111600-12112000	Weak transcription	Fetal Intestine Small	intestine
31	chr5:12112000-12112600	Enhancers	Fetal Intestine Small	intestine
32	chr5:12153200-12154000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:12170000-12170600	Enhancers	Fetal Brain Female	brain
34	chr5:12172400-12172600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:12172400-12176800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:12172600-12174400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:12173400-12173600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:12173600-12175000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:12173600-12175600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:12173600-12176600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:12173600-12177000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:12174000-12174200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:12174000-12175600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:12174000-12176400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:12174000-12177000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:12174200-12176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:12174200-12176400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr5:12174200-12177000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:12174400-12174800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:12174800-12175600	Enhancers	HUES48 Cell Line	embryonic stem cell

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