Variant report

Variant	nsv900466
Chromosome Location	chr13:69603542-69674812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:69613880..69614380-chr3:73159953..73160630,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000223247	chromatin interactions

Extended variants
information (count: 789 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73504291	chr13:69613917-69613918	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2210902	chr13:69613933-69613934	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182984131	chr13:69613941-69613942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375742223	chr13:69613983-69613984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564442860	chr13:69614028-69614029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533339989	chr13:69614041-69614042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537943345	chr13:69614050-69614051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186798667	chr13:69614058-69614059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111781380	chr13:69614097-69614098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567143038	chr13:69614124-69614125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9599383	chr13:69614172-69614173	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114451079	chr13:69614241-69614242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191207774	chr13:69614247-69614248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184792479	chr13:69614251-69614252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79258698	chr13:69614273-69614274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs9599384	chr13:69614278-69614279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551041182	chr13:69614286-69614287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187834474	chr13:69614303-69614304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9599385	chr13:69614379-69614380	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191980663	chr13:69620201-69620202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146533941	chr13:69620217-69620218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76846300	chr13:69620218-69620219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7321945	chr13:69620258-69620259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557334493	chr13:69620262-69620263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9572084	chr13:69620291-69620292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76719653	chr13:69620314-69620315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74089997	chr13:69620373-69620374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185721990	chr13:69620393-69620394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9541737	chr13:69620394-69620395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs75932602	chr13:69620409-69620410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572617108	chr13:69620410-69620411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570359946	chr13:69620429-69620430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141304395	chr13:69620435-69620436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145079016	chr13:69620457-69620458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190134450	chr13:69620460-69620461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377564937	chr13:69620464-69620465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200915112	chr13:69620505-69620506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34536295	chr13:69620529-69620530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35786873	chr13:69620531-69620532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80287198	chr13:69620557-69620558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148324182	chr13:69620608-69620609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114823270	chr13:69620613-69620614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117863062	chr13:69620617-69620618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386772006	chr13:69620622-69620623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116578690	chr13:69620624-69620625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182381164	chr13:69620641-69620642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114296750	chr13:69620661-69620662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116450461	chr13:69620749-69620750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553204182	chr13:69620752-69620753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150452087	chr13:69620762-69620763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69620200-69620600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:69620200-69620600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:69620600-69624600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:69623800-69625600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:69624000-69625800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:69624000-69625800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:69624200-69625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:69624600-69625800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:69625000-69625200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:69625000-69625400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:69625200-69628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:69625600-69627600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:69627600-69627800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:69628800-69629000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:69638200-69639000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:69638400-69638600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:69638400-69638800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:69638400-69638800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:69638400-69638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:69638400-69639000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:69638600-69639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:69638800-69643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:69638800-69643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:69639000-69643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:69639000-69643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:69639400-69640800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:69640800-69644000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:69643600-69644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:69643800-69644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:69643800-69644200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:69643800-69644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr13:69643800-69644400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:69643800-69644400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:69644000-69644400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:69651200-69651600	Enhancers	HUVEC	blood vessel
36	chr13:69651600-69652000	Flanking Active TSS	HUVEC	blood vessel
37	chr13:69652000-69652200	Enhancers	HUVEC	blood vessel
38	chr13:69659200-69659800	Active TSS	Fetal Heart	heart
39	chr13:69666600-69667800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr13:69666800-69667800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:69667000-69667600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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