Variant report

Variant	nsv900687
Chromosome Location	chr13:84691001-84714655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 824 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533071085	chr13:84692603-84692604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75875075	chr13:84692618-84692619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560120218	chr13:84692652-84692653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528761932	chr13:84692680-84692681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76405546	chr13:84692686-84692687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568436272	chr13:84692763-84692764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560645580	chr13:84692812-84692813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527953387	chr13:84692855-84692856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546505191	chr13:84692856-84692857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550769731	chr13:84693044-84693045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187681806	chr13:84693048-84693049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146697794	chr13:84693085-84693086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374259245	chr13:84693107-84693108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531733977	chr13:84693158-84693159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564829779	chr13:84693171-84693172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555675533	chr13:84693225-84693226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575616187	chr13:84693230-84693231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59108611	chr13:84693275-84693276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78176317	chr13:84693278-84693279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577788314	chr13:84693322-84693323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140095970	chr13:84693325-84693326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540354917	chr13:84693326-84693327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74101059	chr13:84693349-84693350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528852850	chr13:84693359-84693360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533163580	chr13:84693375-84693376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184145703	chr13:84693421-84693422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562004156	chr13:84693429-84693430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531147808	chr13:84693463-84693464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140262530	chr13:84693464-84693465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570740502	chr13:84693512-84693513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189864457	chr13:84693525-84693526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77526929	chr13:84693572-84693573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566876898	chr13:84693621-84693622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369501904	chr13:84693622-84693623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374574375	chr13:84693680-84693681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535798079	chr13:84693698-84693699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555809906	chr13:84693702-84693703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568519569	chr13:84693715-84693716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191779142	chr13:84693722-84693723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539332785	chr13:84693752-84693753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367580931	chr13:84693771-84693772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529097250	chr13:84693783-84693784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199509314	chr13:84693810-84693811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10625606	chr13:84693921-84693922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376424831	chr13:84693922-84693923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10628723	chr13:84693923-84693924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557965680	chr13:84693958-84693959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150322542	chr13:84693960-84693961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540073379	chr13:84693977-84693978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553782597	chr13:84693978-84693979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84692600-84693600	Enhancers	Dnd41	blood
2	chr13:84692800-84693800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:84693000-84693600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:84693000-84693600	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:84693000-84693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:84693200-84693400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:84693200-84693600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:84693200-84693600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:84693200-84693600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:84693600-84695400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:84693600-84695400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:84693600-84695400	Weak transcription	Dnd41	blood
13	chr13:84693600-84700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:84694400-84694600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:84694600-84695000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:84694800-84695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:84695000-84695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:84695400-84696000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:84695400-84696000	Enhancers	NHEK	skin
20	chr13:84695400-84696200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:84695400-84696200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:84695400-84696200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:84695400-84696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr13:84695400-84696600	Enhancers	Dnd41	blood
25	chr13:84695600-84695800	Enhancers	Primary hematopoietic stem cells	blood
26	chr13:84695600-84696000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:84695600-84696000	Enhancers	Brain Germinal Matrix	brain
28	chr13:84695600-84696000	Enhancers	HMEC	breast
29	chr13:84695600-84696200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:84695800-84696200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:84696000-84700800	Weak transcription	NHEK	skin
32	chr13:84696200-84700600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:84696200-84700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:84700600-84701400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:84700600-84701400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:84700600-84701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:84700600-84702000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:84700800-84701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:84700800-84701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:84700800-84701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:84700800-84701600	Enhancers	Esophagus	oesophagus
42	chr13:84700800-84701600	Enhancers	NHEK	skin
43	chr13:84700800-84701800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr13:84701000-84701800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr13:84701200-84701600	Enhancers	Fetal Heart	heart
46	chr13:84701600-84705200	Weak transcription	NHEK	skin
47	chr13:84702800-84705600	Enhancers	Hela-S3	cervix
48	chr13:84704000-84705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:84704800-84705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:84705000-84705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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