Variant report

Variant	nsv880532
Chromosome Location	chr5:12022698-12113211
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12016628..12019091-chr5:12029555..12031745,2	K562	blood:
2	chr5:12063386..12065560-chr5:12066303..12068049,2	MCF-7	breast:
3	chr5:12044606..12047204-chr5:12049835..12052783,2	MCF-7	breast:
4	chr5:12109202..12110069-chr5:16588549..16589239,2	MCF-7	breast:
5	chr5:11267303..11267987-chr5:12023685..12024349,2	K562	blood:
6	chr5:12103918..12106278-chr5:12109691..12111309,2	MCF-7	breast:
7	chr5:12059428..12061459-chr5:12097650..12100183,2	MCF-7	breast:
8	chr5:12068782..12071225-chr5:12098789..12100875,2	MCF-7	breast:
9	chr5:12023498..12024457-chr5:12272301..12272950,2	MCF-7	breast:
10	chr5:12070699..12073364-chr5:12078901..12080550,2	MCF-7	breast:
11	chr5:11908684..11911495-chr5:12021242..12023652,2	MCF-7	breast:
12	chr5:12044606..12047204-chr5:12049835..12052783,2	MCF-7	breast:
13	chr5:12061501..12063659-chr5:12080457..12083041,2	MCF-7	breast:
14	chr5:12061501..12063659-chr5:12080457..12083041,2	MCF-7	breast:
15	chr5:12070699..12073364-chr5:12078901..12080550,2	MCF-7	breast:
16	chr5:12103918..12106278-chr5:12109691..12111309,2	MCF-7	breast:
17	chr5:12059428..12061459-chr5:12097650..12100183,2	MCF-7	breast:
18	chr5:12063386..12065560-chr5:12066303..12068049,2	MCF-7	breast:
19	chr5:12068782..12071225-chr5:12098789..12100875,2	MCF-7	breast:
20	chr5:12099951..12101118-chr5:12272149..12273158,7	MCF-7	breast:
21	chr5:11904640..11905448-chr5:12023254..12024388,4	MCF-7	breast:

No data

Extended variants
information (count: 745 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4616894	chr5:12022698-12022699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557240590	chr5:12022713-12022714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575486522	chr5:12022750-12022751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536547785	chr5:12022857-12022858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200704120	chr5:12022876-12022877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78731685	chr5:12022910-12022911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573371184	chr5:12022956-12022957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377420290	chr5:12022975-12022976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188723006	chr5:12023016-12023017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116698987	chr5:12023024-12023025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563422419	chr5:12023094-12023095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559929005	chr5:12023103-12023104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370302350	chr5:12023137-12023138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577726140	chr5:12023184-12023185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78482820	chr5:12023210-12023211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563577334	chr5:12023245-12023246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531935969	chr5:12023286-12023287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530873333	chr5:12023299-12023300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11384783	chr5:12023306-12023307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398108607	chr5:12023314-12023315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199869710	chr5:12023315-12023316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549249760	chr5:12023316-12023317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560958563	chr5:12023356-12023357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528263408	chr5:12023388-12023389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7716622	chr5:12023431-12023432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs571367809	chr5:12023432-12023433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7736481	chr5:12023442-12023443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs550610242	chr5:12023452-12023453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150453642	chr5:12023482-12023483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369195081	chr5:12023488-12023489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532861733	chr5:12023512-12023513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536580459	chr5:12023536-12023537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555224043	chr5:12023561-12023562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551284390	chr5:12023574-12023575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569433951	chr5:12023651-12023652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547441772	chr5:12023654-12023655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181080516	chr5:12023666-12023667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534366150	chr5:12023737-12023738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552798875	chr5:12023751-12023752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577763099	chr5:12023759-12023760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138250222	chr5:12023772-12023773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72738569	chr5:12023773-12023774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536277923	chr5:12023774-12023775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563313065	chr5:12023779-12023780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142961882	chr5:12023812-12023813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146145432	chr5:12023863-12023864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548271988	chr5:12023919-12023920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561203163	chr5:12023993-12023994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13163354	chr5:12028211-12028212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs4639227	chr5:12028217-12028218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12020200-12023400	Weak transcription	Fetal Intestine Large	intestine
2	chr5:12022000-12024000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:12022200-12023800	Enhancers	Liver	Liver
4	chr5:12023400-12023800	Enhancers	Fetal Intestine Large	intestine
5	chr5:12028200-12029000	Enhancers	Fetal Intestine Large	intestine
6	chr5:12030800-12033400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:12031200-12031800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:12056600-12056800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:12056800-12057200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:12070400-12070600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:12070600-12078600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:12071800-12072600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:12072200-12073000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:12072600-12073000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:12072600-12073000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:12072600-12073000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:12073000-12074000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:12078400-12079000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:12078600-12078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:12081200-12081600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:12095600-12096200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:12099400-12099600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:12099600-12099800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr5:12102000-12102400	Enhancers	Fetal Intestine Large	intestine
25	chr5:12102600-12103000	Enhancers	Fetal Brain Male	brain
26	chr5:12108600-12112800	Enhancers	Fetal Intestine Large	intestine
27	chr5:12109200-12111000	Enhancers	Liver	Liver
28	chr5:12109200-12111600	Enhancers	Fetal Intestine Small	intestine
29	chr5:12109400-12109600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:12109400-12109800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:12109600-12109800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:12110400-12110800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr5:12110400-12111200	Enhancers	Pancreas	Pancrea
34	chr5:12110400-12111200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:12110800-12111000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:12111000-12111400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:12111600-12112000	Weak transcription	Fetal Intestine Small	intestine
38	chr5:12112000-12112600	Enhancers	Fetal Intestine Small	intestine

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