Variant report

Variant	nsv976243
Chromosome Location	chr13:67790232-67794102
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	chr13:67780012..67782113-chr13:67789906..67791618,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116054559	chr13:67790253-67790254	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148348296	chr13:67790274-67790275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542243419	chr13:67790295-67790296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148301987	chr13:67790322-67790323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374275458	chr13:67790325-67790326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74593729	chr13:67790353-67790354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7489531	chr13:67790361-67790362	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545046396	chr13:67790392-67790393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76271911	chr13:67790448-67790449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531097773	chr13:67790474-67790475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551324314	chr13:67790476-67790477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141546912	chr13:67790520-67790521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530146477	chr13:67790550-67790551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546673288	chr13:67790552-67790553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566808474	chr13:67790558-67790559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188155010	chr13:67790565-67790566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369609117	chr13:67790581-67790582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1983871	chr13:67790614-67790615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78855063	chr13:67790686-67790687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192740243	chr13:67790739-67790740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79021023	chr13:67790764-67790765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138546196	chr13:67790778-67790779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567439837	chr13:67790788-67790789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564376584	chr13:67790796-67790797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67295050	chr13:67790816-67790817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34829318	chr13:67790827-67790828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532037486	chr13:67790828-67790829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536293841	chr13:67790839-67790840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9571737	chr13:67790840-67790841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9571738	chr13:67790841-67790842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114828315	chr13:67790871-67790872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572762166	chr13:67790894-67790895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184416070	chr13:67790944-67790945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188274894	chr13:67790989-67790990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373323971	chr13:67791058-67791059	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575941024	chr13:67791100-67791101	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9599201	chr13:67791125-67791126	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192490782	chr13:67791149-67791150	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562301144	chr13:67791165-67791166	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561612195	chr13:67791213-67791214	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143382441	chr13:67791231-67791232	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540882416	chr13:67791246-67791247	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9571739	chr13:67791265-67791266	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117367948	chr13:67791330-67791331	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112387906	chr13:67791346-67791347	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370325485	chr13:67791366-67791367	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568994438	chr13:67791371-67791372	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548286205	chr13:67791380-67791381	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372655090	chr13:67791385-67791386	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34529150	chr13:67791404-67791405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67731400-67795400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:67756200-67795800	Weak transcription	Left Ventricle	heart
3	chr13:67772200-67797200	Weak transcription	Fetal Kidney	kidney
4	chr13:67779400-67791000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:67780200-67791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:67783800-67795200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:67784000-67791000	Weak transcription	Brain Anterior Caudate	brain
8	chr13:67784600-67792000	Weak transcription	A549	lung
9	chr13:67787600-67791000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:67788000-67790400	Strong transcription	HSMM	muscle
11	chr13:67788600-67791000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:67789600-67791800	Enhancers	Brain Cingulate Gyrus	brain
13	chr13:67789600-67794400	Enhancers	Brain Substantia Nigra	brain
14	chr13:67790000-67795000	Enhancers	Brain Angular Gyrus	brain
15	chr13:67790200-67790800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:67790200-67791000	Enhancers	Brain Hippocampus Middle	brain
17	chr13:67790200-67791800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:67790400-67792600	Weak transcription	HSMM	muscle
19	chr13:67790800-67791800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:67790800-67795800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:67791000-67791400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:67791000-67791400	Active TSS	Brain Hippocampus Middle	brain
23	chr13:67791000-67791600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:67791000-67791800	Enhancers	Brain Anterior Caudate	brain
25	chr13:67791000-67792000	Enhancers	Fetal Brain Female	brain
26	chr13:67791000-67792200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:67791000-67792400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:67791000-67793000	Enhancers	Brain Germinal Matrix	brain
29	chr13:67791000-67793600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:67791400-67791800	Enhancers	Brain Hippocampus Middle	brain
31	chr13:67791400-67792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:67791400-67795800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:67791600-67793200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:67791800-67792000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr13:67791800-67792200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr13:67791800-67792200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr13:67791800-67792200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:67791800-67792400	Active TSS	Brain Cingulate Gyrus	brain
39	chr13:67791800-67793600	Enhancers	Fetal Brain Male	brain
40	chr13:67792000-67792400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr13:67792000-67792800	Flanking Active TSS	Fetal Brain Female	brain
42	chr13:67792000-67793400	Enhancers	A549	lung
43	chr13:67792200-67792400	Enhancers	Brain Anterior Caudate	brain
44	chr13:67792200-67792600	Enhancers	Brain Hippocampus Middle	brain
45	chr13:67792200-67792800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:67792200-67794400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:67792200-67797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:67792400-67792600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr13:67792400-67792600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr13:67792400-67792600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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