Variant report

Variant	nsv900395
Chromosome Location	chr13:67091922-67180045
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	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
2	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
3	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
4	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
5	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
6	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
7	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
8	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
9	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
10	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
11	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
12	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
13	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
14	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:

No data

Extended variants
information (count: 2055 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2055 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4884677	chr13:67091922-67091923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532929774	chr13:67091939-67091940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549589744	chr13:67091989-67091990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563172626	chr13:67092074-67092075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529138014	chr13:67092095-67092096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549297075	chr13:67092106-67092107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565534572	chr13:67092122-67092123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534612211	chr13:67092174-67092175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557148344	chr13:67092184-67092185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551147072	chr13:67092198-67092199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571381009	chr13:67092221-67092222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140761990	chr13:67092224-67092225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557566728	chr13:67092257-67092258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181455914	chr13:67092266-67092267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536542435	chr13:67092270-67092271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529850569	chr13:67092294-67092295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368692965	chr13:67092295-67092296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185795320	chr13:67092320-67092321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542962278	chr13:67092322-67092323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561237920	chr13:67092334-67092335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573114695	chr13:67092375-67092376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573616927	chr13:67092422-67092423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74791834	chr13:67092490-67092491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144615179	chr13:67092511-67092512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138416521	chr13:67092546-67092547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117908455	chr13:67092553-67092554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149273024	chr13:67092619-67092620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189728654	chr13:67092639-67092640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183227020	chr13:67092655-67092656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117940872	chr13:67092681-67092682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528039419	chr13:67092702-67092703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551376831	chr13:67092725-67092726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571290977	chr13:67092726-67092727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530605943	chr13:67092756-67092757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550742136	chr13:67092780-67092781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567813067	chr13:67092790-67092791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148033186	chr13:67092791-67092792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553357290	chr13:67092793-67092794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371816315	chr13:67092820-67092821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143656182	chr13:67092851-67092852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9540783	chr13:67092901-67092902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77208658	chr13:67092937-67092938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369667392	chr13:67092961-67092962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554643904	chr13:67092986-67092987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573711972	chr13:67092990-67092991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140627735	chr13:67092993-67092994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115568832	chr13:67093043-67093044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528363912	chr13:67093128-67093129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575961287	chr13:67093172-67093173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187928994	chr13:67093182-67093183	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:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67088600-67094600	Weak transcription	Brain Substantia Nigra	brain
2	chr13:67089000-67094600	Weak transcription	Brain Angular Gyrus	brain
3	chr13:67089000-67096600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:67089200-67095000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:67089200-67095000	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:67091000-67092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:67092000-67093000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:67093000-67093200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:67093200-67093600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:67093600-67096800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:67094200-67095400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:67094400-67095400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:67094600-67095400	Enhancers	Brain Angular Gyrus	brain
14	chr13:67094600-67095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:67094600-67095800	Enhancers	Brain Substantia Nigra	brain
16	chr13:67094800-67095400	Enhancers	Adipose Nuclei	Adipose
17	chr13:67094800-67095400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:67094800-67095600	Enhancers	Brain Anterior Caudate	brain
19	chr13:67095000-67095400	Enhancers	Brain Hippocampus Middle	brain
20	chr13:67095000-67095400	Enhancers	Stomach Smooth Muscle	stomach
21	chr13:67095000-67095600	Enhancers	Brain Cingulate Gyrus	brain
22	chr13:67095400-67099200	Weak transcription	Brain Angular Gyrus	brain
23	chr13:67095400-67099200	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:67095400-67099200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:67095600-67099000	Weak transcription	Brain Anterior Caudate	brain
26	chr13:67095600-67102600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:67095800-67102000	Weak transcription	Brain Substantia Nigra	brain
28	chr13:67096600-67097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:67096800-67097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:67099000-67099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:67099000-67099600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:67099000-67099600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr13:67099000-67099600	Enhancers	Brain Anterior Caudate	brain
34	chr13:67099200-67099400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:67099200-67099600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr13:67099200-67099600	Enhancers	Brain Hippocampus Middle	brain
37	chr13:67099200-67099600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr13:67099200-67099800	Enhancers	Brain Angular Gyrus	brain
39	chr13:67099200-67100000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:67099400-67099800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:67099400-67099800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:67099400-67100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:67099600-67102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:67099600-67102400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:67099600-67102400	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:67099600-67103200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:67099600-67103400	Weak transcription	Brain Anterior Caudate	brain
48	chr13:67099800-67100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:67099800-67102200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:67099800-67102600	Weak transcription	Brain Angular Gyrus	brain

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