Variant report

Variant	nsv976254
Chromosome Location	chr13:93007578-93034690
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93031583..93033539-chr13:94000749..94002746,2	K562	blood:
2	chr13:93026561..93029613-chr13:93041707..93044561,3	K562	blood:
3	chr13:93018970..93021048-chr13:93021164..93022779,2	K562	blood:
4	chr13:92839355..92840221-chr13:93007230..93007787,2	MCF-7	breast:
5	chr13:93012828..93015636-chr13:93017565..93019548,2	K562	blood:
6	chr13:93026262..93028061-chr13:93041707..93043886,2	K562	blood:
7	chr13:93024437..93027101-chr13:93028065..93030296,2	K562	blood:
8	chr13:93029053..93031033-chr13:93035454..93037106,2	K562	blood:
9	chr13:93024752..93026535-chr13:93034305..93036660,2	K562	blood:
10	chr13:92010706..92013622-chr13:93006752..93008493,2	K562	blood:
11	chr13:92841987..92842813-chr13:93007626..93008163,2	MCF-7	breast:
12	chr13:93012828..93015636-chr13:93017565..93019548,2	K562	blood:
13	chr13:93018970..93021048-chr13:93021164..93022779,2	K562	blood:
14	chr13:93033779..93037565-chr13:93037863..93040159,3	K562	blood:
15	chr13:93024752..93026535-chr13:93034305..93036660,2	K562	blood:
16	chr13:93029774..93033381-chr13:93039131..93043022,5	K562	blood:
17	chr13:93024437..93027101-chr13:93028065..93030296,2	K562	blood:
18	chr13:93013213..93015773-chr13:93023566..93027348,3	K562	blood:
19	chr13:93013213..93015773-chr13:93023566..93027348,3	K562	blood:
20	chr13:93028655..93031669-chr13:93033790..93037106,3	K562	blood:
21	chr13:93004690..93006667-chr13:93012295..93015000,2	K562	blood:
22	chr13:92981004..92983533-chr13:93023966..93025848,2	K562	blood:
23	chr13:92983817..92985368-chr13:93015068..93017856,2	K562	blood:
24	chr13:93028655..93031669-chr13:93033790..93037106,3	K562	blood:
25	chr13:92995861..92998163-chr13:93022468..93024947,2	K562	blood:

No data

Extended variants
information (count: 174 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs4362255	chr13:93009816-93009817	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183878332	chr13:93009817-93009818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148536049	chr13:93009844-93009845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189903209	chr13:93009941-93009942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372015769	chr13:93009942-93009943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550427116	chr13:93009948-93009949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571286489	chr13:93009990-93009991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs35801347	chr13:93009993-93009994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550929569	chr13:93009997-93009998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192873454	chr13:93010002-93010003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536036474	chr13:93010008-93010009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536495818	chr13:93010019-93010020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552897017	chr13:93010072-93010073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35520935	chr13:93010082-93010083	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113657853	chr13:93010127-93010128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181363280	chr13:93010129-93010130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs398117741	chr13:93010135-93010136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553917712	chr13:93010141-93010142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543448935	chr13:93010300-93010301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185397240	chr13:93010322-93010323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190377418	chr13:93010434-93010435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371502646	chr13:93010453-93010454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77574628	chr13:93010455-93010456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574688857	chr13:93010487-93010488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540773989	chr13:93010501-93010502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576889437	chr13:93010511-93010512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74640402	chr13:93010519-93010520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186472429	chr13:93010520-93010521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539471136	chr13:93010576-93010577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574423910	chr13:93010591-93010592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs36062545	chr13:93010602-93010603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550892774	chr13:93010624-93010625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79011607	chr13:93010625-93010626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188109380	chr13:93010641-93010642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556423155	chr13:93010677-93010678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546736820	chr13:93010712-93010713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566569679	chr13:93010717-93010718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375427816	chr13:93010735-93010736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs558659282	chr13:93010736-93010737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533769164	chr13:93010753-93010754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142361175	chr13:93010801-93010802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs7331847	chr13:93010802-93010803	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575037207	chr13:93010818-93010819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112447662	chr13:93010861-93010862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554321654	chr13:93010874-93010875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7332756	chr13:93010886-93010887	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376482230	chr13:93010903-93010904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565021027	chr13:93010904-93010905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575417015	chr13:93010941-93010942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544190290	chr13:93010950-93010951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Small bowel adenocarcinoma	21586687	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93009800-93011800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:93015000-93015600	Enhancers	Fetal Heart	heart
3	chr13:93015200-93015600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:93015400-93015800	Enhancers	Fetal Stomach	stomach
5	chr13:93031200-93032000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:93031400-93031800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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