Variant report

Variant	nsv1048293
Chromosome Location	chr13:67099206-67166073
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
2	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
3	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
4	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
5	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
6	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
7	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
8	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
9	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
10	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
11	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
12	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:

No data

Extended variants
information (count: 1754 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77131400	chr13:67099225-67099226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9592478	chr13:67099262-67099263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374909496	chr13:67099268-67099269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553392155	chr13:67099269-67099270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566486077	chr13:67099293-67099294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549169582	chr13:67099295-67099296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141430706	chr13:67099318-67099319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79706210	chr13:67099333-67099334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560622555	chr13:67099337-67099338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575309842	chr13:67099345-67099346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370123150	chr13:67099370-67099371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1932884	chr13:67099389-67099390	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557112916	chr13:67099413-67099414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527909551	chr13:67099418-67099419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573803214	chr13:67099456-67099457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186849088	chr13:67099494-67099495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542862653	chr13:67099525-67099526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559696659	chr13:67099657-67099658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78938353	chr13:67099682-67099683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9540789	chr13:67099702-67099703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564901895	chr13:67099714-67099715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193022609	chr13:67099739-67099740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76203550	chr13:67099830-67099831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561484750	chr13:67099928-67099929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9540790	chr13:67099942-67099943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150847614	chr13:67099974-67099975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566843924	chr13:67099986-67099987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115248518	chr13:67099993-67099994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536228469	chr13:67099998-67099999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114447109	chr13:67100084-67100085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568953546	chr13:67100211-67100212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9540791	chr13:67100212-67100213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185704245	chr13:67100235-67100236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573741908	chr13:67100238-67100239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75839636	chr13:67100267-67100268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569716231	chr13:67100282-67100283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553277350	chr13:67100390-67100391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189974766	chr13:67100433-67100434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372032201	chr13:67100460-67100461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79071582	chr13:67100497-67100498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193195424	chr13:67100501-67100502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575133908	chr13:67100515-67100516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76287950	chr13:67100528-67100529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560833698	chr13:67100550-67100551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533617081	chr13:67100562-67100563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9529083	chr13:67100578-67100579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146154189	chr13:67100639-67100640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs68016271	chr13:67100640-67100641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386379577	chr13:67100649-67100650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112370061	chr13:67100652-67100653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67095600-67102600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:67095800-67102000	Weak transcription	Brain Substantia Nigra	brain
3	chr13:67099000-67099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:67099000-67099600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:67099000-67099600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr13:67099000-67099600	Enhancers	Brain Anterior Caudate	brain
7	chr13:67099200-67099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:67099200-67099600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:67099200-67099600	Enhancers	Brain Hippocampus Middle	brain
10	chr13:67099200-67099600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr13:67099200-67099800	Enhancers	Brain Angular Gyrus	brain
12	chr13:67099200-67100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:67099400-67099800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:67099400-67099800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:67099400-67100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:67099600-67102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:67099600-67102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:67099600-67102400	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:67099600-67103200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:67099600-67103400	Weak transcription	Brain Anterior Caudate	brain
21	chr13:67099800-67100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:67099800-67102200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:67099800-67102600	Weak transcription	Brain Angular Gyrus	brain
24	chr13:67100000-67100600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:67100600-67101200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:67100600-67102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:67101200-67102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:67102000-67102400	Enhancers	Fetal Kidney	kidney
29	chr13:67102000-67103400	Enhancers	Brain Substantia Nigra	brain
30	chr13:67102200-67105000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr13:67102200-67105600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:67102200-67105800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr13:67102400-67102600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:67102400-67102600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:67102400-67102600	Enhancers	Brain Hippocampus Middle	brain
36	chr13:67102400-67102800	Flanking Active TSS	Fetal Kidney	kidney
37	chr13:67102400-67102800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr13:67102400-67102800	Active TSS	Osteobl	bone
39	chr13:67102400-67103400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:67102400-67104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr13:67102400-67104800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr13:67102400-67105600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr13:67102400-67105800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:67102600-67102800	Enhancers	Brain Cingulate Gyrus	brain
45	chr13:67102600-67103000	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:67102600-67103200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr13:67102600-67103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:67102600-67103600	Enhancers	Brain Angular Gyrus	brain
49	chr13:67102600-67103800	Enhancers	Fetal Lung	lung
50	chr13:67102600-67104600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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