Variant report

Variant	nsv900399
Chromosome Location	chr13:67249849-67362138
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
2	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
3	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
4	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
5	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
6	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
7	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
8	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
9	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:

No data

Extended variants
information (count: 2943 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2943 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6562469	chr13:67249849-67249850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9571618	chr13:67249869-67249870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188536299	chr13:67249883-67249884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373167580	chr13:67249909-67249910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540855392	chr13:67249986-67249987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560621138	chr13:67250003-67250004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532882718	chr13:67250007-67250008	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546531845	chr13:67250020-67250021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562823760	chr13:67250024-67250025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116652775	chr13:67250046-67250047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548668810	chr13:67250060-67250061	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568576363	chr13:67250063-67250064	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529826378	chr13:67250071-67250072	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546818225	chr13:67250124-67250125	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566643431	chr13:67250162-67250163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192905615	chr13:67250185-67250186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370744260	chr13:67250203-67250204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558429398	chr13:67250205-67250206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372669236	chr13:67250313-67250314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568482428	chr13:67250323-67250324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149405772	chr13:67250382-67250383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572904736	chr13:67250440-67250441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370745802	chr13:67250494-67250495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554351049	chr13:67250526-67250527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66562252	chr13:67250532-67250533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375352961	chr13:67250535-67250536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535133411	chr13:67250638-67250639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574524284	chr13:67250713-67250714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144813761	chr13:67250721-67250722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553495913	chr13:67250730-67250731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577520242	chr13:67250731-67250732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546492765	chr13:67250734-67250735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563191473	chr13:67250748-67250749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115170166	chr13:67250768-67250769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542272819	chr13:67250782-67250783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375329876	chr13:67250798-67250799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576397603	chr13:67250801-67250802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114166976	chr13:67250803-67250804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569966192	chr13:67250828-67250829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547583200	chr13:67250835-67250836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535771390	chr13:67250870-67250871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532197185	chr13:67250880-67250881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552018741	chr13:67250928-67250929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568846064	chr13:67250991-67250992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73198535	chr13:67251033-67251034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9571619	chr13:67251040-67251041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567973867	chr13:67251056-67251057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533838014	chr13:67251064-67251065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9571620	chr13:67251066-67251067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148172335	chr13:67251072-67251073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67243800-67255400	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67248000-67255400	Weak transcription	Brain Hippocampus Middle	brain
3	chr13:67248000-67255600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:67248800-67250000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:67249400-67250400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:67249600-67250000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:67249600-67250000	Enhancers	Brain Cingulate Gyrus	brain
8	chr13:67249600-67250400	Enhancers	Osteobl	bone
9	chr13:67249800-67250200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:67249800-67250200	Flanking Active TSS	A549	lung
11	chr13:67250000-67250200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:67250000-67255600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:67250200-67250400	Enhancers	A549	lung
14	chr13:67250200-67255600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:67254000-67254600	Enhancers	HUVEC	blood vessel
16	chr13:67254200-67255800	Enhancers	Adipose Nuclei	Adipose
17	chr13:67255200-67256000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:67255200-67256000	Enhancers	Brain Angular Gyrus	brain
19	chr13:67255200-67256600	Enhancers	Fetal Lung	lung
20	chr13:67255400-67256000	Enhancers	Fetal Brain Female	brain
21	chr13:67255400-67256400	Enhancers	Brain Substantia Nigra	brain
22	chr13:67255400-67256600	Enhancers	Brain Hippocampus Middle	brain
23	chr13:67255600-67256000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:67255600-67256000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:67255600-67256000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr13:67255600-67256000	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:67255600-67257200	Enhancers	Brain Cingulate Gyrus	brain
28	chr13:67255600-67259200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:67255800-67256600	Enhancers	Brain Anterior Caudate	brain
30	chr13:67259200-67259600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:67259200-67259600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr13:67259200-67260000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:67259400-67260000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:67259600-67260000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr13:67260000-67260200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:67260000-67263400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:67261200-67261600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:67261800-67262000	Enhancers	Brain Substantia Nigra	brain
39	chr13:67262000-67274200	Weak transcription	Brain Substantia Nigra	brain
40	chr13:67263200-67263600	Enhancers	Brain Cingulate Gyrus	brain
41	chr13:67263200-67263800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr13:67263400-67263600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:67263400-67263800	Enhancers	Brain Angular Gyrus	brain
44	chr13:67263400-67263800	Enhancers	Fetal Brain Female	brain
45	chr13:67263400-67264000	Enhancers	Primary B cells from peripheral blood	blood
46	chr13:67263400-67264000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:67263400-67264000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:67263400-67264000	Enhancers	Osteobl	bone
49	chr13:67263400-67264200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:67263400-67264200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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