Variant report

Variant	nsv983616
Chromosome Location	chr13:96455936-96461697
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	chr13:96451195..96454586-chr13:96458825..96461447,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-6	chr13:96461564-96461861	NONHSAT034777

Extended variants
information (count: 185 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367718290	chr13:96455940-96455941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149600660	chr13:96455966-96455967	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7358810	chr13:96455986-96455987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564668635	chr13:96456018-96456019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538016792	chr13:96456032-96456033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533076231	chr13:96456041-96456042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543138028	chr13:96456043-96456044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556260100	chr13:96456139-96456140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187657931	chr13:96456147-96456148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376388789	chr13:96456150-96456151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563314477	chr13:96456174-96456175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191771972	chr13:96456175-96456176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114498970	chr13:96456184-96456185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559183330	chr13:96456209-96456210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528365217	chr13:96456241-96456242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551188978	chr13:96456242-96456243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571090662	chr13:96456262-96456263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185009692	chr13:96456299-96456300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576511820	chr13:96456347-96456348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200770730	chr13:96456353-96456354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189121091	chr13:96456363-96456364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180977125	chr13:96456397-96456398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570035775	chr13:96456423-96456424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185452541	chr13:96456510-96456511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144281005	chr13:96456513-96456514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572823999	chr13:96456518-96456519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535313532	chr13:96456599-96456600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148726004	chr13:96456600-96456601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144208085	chr13:96456672-96456673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75464323	chr13:96456711-96456712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7994795	chr13:96456716-96456717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73556724	chr13:96456747-96456748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573592945	chr13:96456755-96456756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542259095	chr13:96456764-96456765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372165099	chr13:96456768-96456769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558899583	chr13:96456792-96456793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528401826	chr13:96456831-96456832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551225646	chr13:96456844-96456845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372882425	chr13:96456862-96456863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541946690	chr13:96456892-96456893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530571736	chr13:96456906-96456907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375783386	chr13:96457030-96457031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550258350	chr13:96457216-96457217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570091007	chr13:96457349-96457350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535942377	chr13:96457368-96457369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549426709	chr13:96457421-96457422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566064973	chr13:96457454-96457455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78722098	chr13:96457469-96457470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558463688	chr13:96457506-96457507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567423867	chr13:96457524-96457525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96430000-96457400	Weak transcription	Brain Germinal Matrix	brain
2	chr13:96443800-96465600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:96443800-96466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:96444400-96461600	Weak transcription	Esophagus	oesophagus
5	chr13:96444400-96461800	Weak transcription	Ovary	ovary
6	chr13:96444400-96477600	Weak transcription	Brain Angular Gyrus	brain
7	chr13:96444400-96477600	Weak transcription	NHLF	lung
8	chr13:96444400-96485600	Weak transcription	NHDF-Ad	bronchial
9	chr13:96445000-96458400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr13:96445600-96461600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:96445600-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:96445600-96461800	Weak transcription	Pancreas	Pancrea
13	chr13:96445600-96477400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:96445800-96461600	Weak transcription	Aorta	Aorta
15	chr13:96445800-96490000	Weak transcription	HepG2	liver
16	chr13:96446000-96457400	Weak transcription	Fetal Intestine Small	intestine
17	chr13:96446200-96456600	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:96446200-96461600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:96446200-96461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:96446200-96477400	Weak transcription	Gastric	stomach
21	chr13:96446400-96464800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:96446400-96466000	Weak transcription	NHEK	skin
23	chr13:96446800-96457200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:96446800-96477400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:96446800-96477400	Weak transcription	HSMMtube	muscle
26	chr13:96447000-96461600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:96447200-96477400	Weak transcription	Osteobl	bone
28	chr13:96448800-96457000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:96448800-96458400	Weak transcription	Liver	Liver
30	chr13:96449000-96462400	Weak transcription	Hela-S3	cervix
31	chr13:96449000-96464800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:96449800-96458400	Weak transcription	NH-A	brain
33	chr13:96450200-96461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:96451800-96458400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:96452000-96458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:96452000-96490600	Weak transcription	Fetal Kidney	kidney
37	chr13:96452400-96456600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:96452800-96457400	Weak transcription	HSMM	muscle
39	chr13:96452800-96466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:96453000-96461800	Weak transcription	Fetal Stomach	stomach
41	chr13:96455000-96456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:96455000-96467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:96455600-96456000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:96455800-96456000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:96456000-96461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:96456800-96457000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr13:96457000-96457400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:96457000-96458400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:96457400-96457800	Strong transcription	HSMM	muscle
50	chr13:96457400-96460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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