Variant report

Variant	nsv880737
Chromosome Location	chr5:29704121-29773087
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29721879..29723943-chr5:29725027..29727979,2	K562	blood:
2	chr5:29732562..29734284-chr5:29734995..29736841,2	K562	blood:
3	chr5:29732562..29734284-chr5:29734995..29736841,2	K562	blood:
4	chr4:181350073..181352059-chr5:29762233..29764064,2	MCF-7	breast:
5	chr5:29734347..29737280-chr5:29739042..29740849,2	MCF-7	breast:
6	chr5:29729555..29730090-chr5:29750459..29751020,2	MCF-7	breast:
7	chr5:29721879..29723943-chr5:29725027..29727979,2	K562	blood:
8	chr5:29734347..29737280-chr5:29739042..29740849,2	MCF-7	breast:
9	chr5:29192802..29195589-chr5:29735604..29737359,2	K562	blood:
10	chr5:29720751..29721441-chr5:29812006..29812656,2	MCF-7	breast:
11	chr5:29767605..29769973-chr5:29774062..29775613,2	K562	blood:
12	chr5:29729555..29730090-chr5:29750459..29751020,2	MCF-7	breast:
13	chr5:29721152..29723943-chr5:29726396..29727979,2	K562	blood:
14	chr5:29721152..29723943-chr5:29726396..29727979,2	K562	blood:

No data

Extended variants
information (count: 281 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541309608	chr5:29705823-29705824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13157027	chr5:29705824-29705825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544239870	chr5:29705832-29705833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566415543	chr5:29705858-29705859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562897662	chr5:29705864-29705865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183634510	chr5:29705868-29705869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370405266	chr5:29705897-29705898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188631191	chr5:29705905-29705906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75623994	chr5:29705914-29705915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527452705	chr5:29705959-29705960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549113324	chr5:29705966-29705967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566765962	chr5:29705991-29705992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151067725	chr5:29705993-29705994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117052567	chr5:29706015-29706016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537841126	chr5:29706021-29706022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555935410	chr5:29706064-29706065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142818714	chr5:29706071-29706072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3114521	chr5:29706081-29706082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs72741120	chr5:29706082-29706083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75420979	chr5:29706124-29706125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191819087	chr5:29706132-29706133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555450316	chr5:29706145-29706146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3100951	chr5:29706178-29706179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183987778	chr5:29706180-29706181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3100952	chr5:29706185-29706186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149826529	chr5:29706230-29706231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2877065	chr5:29706317-29706318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2330146	chr5:29706340-29706341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188371706	chr5:29706365-29706366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191291006	chr5:29706367-29706368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549150226	chr5:29706396-29706397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184404658	chr5:29706399-29706400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531349592	chr5:29706401-29706402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2330145	chr5:29706407-29706408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549834316	chr5:29706409-29706410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190492435	chr5:29706455-29706456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571185203	chr5:29706461-29706462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538602441	chr5:29706480-29706481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551803961	chr5:29706488-29706489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539425121	chr5:29706545-29706546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2330144	chr5:29706548-29706549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553349644	chr5:29706570-29706571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75602065	chr5:29706578-29706579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555580290	chr5:29706592-29706593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386686732	chr5:29706601-29706602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2330142	chr5:29706602-29706603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577970280	chr5:29706619-29706620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186931789	chr5:29706620-29706621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12153649	chr5:29706623-29706624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113893624	chr5:29706641-29706642	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29705800-29706200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:29706000-29707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:29706200-29706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:29706600-29708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:29744400-29745000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:29751400-29751800	Enhancers	Fetal Intestine Small	intestine
7	chr5:29758600-29759000	Enhancers	HepG2	liver
8	chr5:29759000-29759200	Active TSS	Liver	Liver
9	chr5:29759000-29759200	Flanking Active TSS	HepG2	liver
10	chr5:29759000-29759600	Enhancers	Fetal Intestine Large	intestine
11	chr5:29759000-29759600	Active TSS	A549	lung
12	chr5:29759200-29759400	Flanking Active TSS	Liver	Liver
13	chr5:29759200-29759600	Enhancers	Fetal Intestine Small	intestine
14	chr5:29759200-29759600	Active TSS	HepG2	liver
15	chr5:29759600-29760000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:29759600-29761200	Enhancers	HepG2	liver
17	chr5:29760200-29760400	Enhancers	Fetal Intestine Large	intestine
18	chr5:29760200-29760400	Enhancers	A549	lung
19	chr5:29760400-29761200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:29762800-29763000	Enhancers	HepG2	liver

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