Variant report

Variant	nsv562726
Chromosome Location	chr13:92868073-92967664
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92965487..92967711-chr13:92976361..92978926,2	K562	blood:
2	chr13:92956827..92958387-chr13:92959759..92961351,2	K562	blood:
3	chr13:92961385..92963031-chr13:92979111..92982076,2	K562	blood:
4	chr13:92957176..92958871-chr13:92997001..92998891,2	K562	blood:
5	chr13:92962787..92965087-chr13:92966991..92969071,2	K562	blood:
6	chr13:92957496..92960008-chr13:92963128..92965362,2	K562	blood:
7	chr13:92964628..92966987-chr13:92977426..92979496,2	K562	blood:
8	chr13:92010436..92012496-chr13:92953050..92954701,2	K562	blood:
9	chr13:92962787..92965087-chr13:92966991..92969071,2	K562	blood:
10	chr13:92965451..92968338-chr13:92972669..92975627,2	K562	blood:
11	chr13:92958679..92961533-chr13:93089880..93091566,2	K562	blood:
12	chr13:92956827..92958387-chr13:92959759..92961351,2	K562	blood:
13	chr13:92951893..92954281-chr13:92957574..92960507,2	K562	blood:
14	chr13:92957496..92960008-chr13:92963128..92965362,2	K562	blood:
15	chr13:92951893..92954281-chr13:92957574..92960507,2	K562	blood:

No data

Extended variants
information (count: 1914 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1914 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2209651	chr13:92868073-92868074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527336437	chr13:92868105-92868106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139209809	chr13:92868140-92868141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60012009	chr13:92868147-92868148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192317501	chr13:92868148-92868149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373037287	chr13:92868171-92868172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550029805	chr13:92868202-92868203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1360389	chr13:92868227-92868228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369213579	chr13:92868327-92868328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535758998	chr13:92868340-92868341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548861664	chr13:92868341-92868342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182466043	chr13:92868351-92868352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142276502	chr13:92868353-92868354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186137383	chr13:92868357-92868358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557868088	chr13:92868362-92868363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1360388	chr13:92868372-92868373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537078732	chr13:92868412-92868413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557345597	chr13:92868417-92868418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191110232	chr13:92868432-92868433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76635765	chr13:92868503-92868504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145002647	chr13:92868548-92868549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573519539	chr13:92868582-92868583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368776182	chr13:92868596-92868597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182623593	chr13:92868600-92868601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373213989	chr13:92868608-92868609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564200619	chr13:92868611-92868612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149154127	chr13:92868689-92868690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543018677	chr13:92868702-92868703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146532219	chr13:92868706-92868707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529126808	chr13:92868756-92868757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549302972	chr13:92868763-92868764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187354190	chr13:92868772-92868773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147916179	chr13:92868807-92868808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12877406	chr13:92868828-92868829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370213419	chr13:92868889-92868890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551438688	chr13:92868911-92868912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571378158	chr13:92868914-92868915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73627730	chr13:92868959-92868960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545827020	chr13:92868974-92868975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141520745	chr13:92868980-92868981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567700484	chr13:92868990-92868991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536536058	chr13:92869007-92869008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553737895	chr13:92869008-92869009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573456238	chr13:92869093-92869094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545591315	chr13:92869101-92869102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147044920	chr13:92869137-92869138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577626413	chr13:92869138-92869139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115253645	chr13:92869207-92869208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562682050	chr13:92869211-92869212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115864155	chr13:92869224-92869225	Weak transcription	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92863800-92870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:92864000-92870600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:92864000-92871200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:92866000-92868200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:92867000-92873600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:92867200-92873800	Weak transcription	Ovary	ovary
7	chr13:92868200-92868600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:92868600-92873800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:92870400-92871800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:92870600-92870800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:92870800-92871000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:92870800-92871000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr13:92870800-92871200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr13:92870800-92871200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:92871000-92871200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:92871000-92871200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr13:92871000-92871400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:92871000-92871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:92871200-92871400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:92871200-92871400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr13:92871200-92871800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:92871200-92871800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:92871200-92872000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:92871200-92872000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:92871400-92871600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr13:92871400-92871600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:92871400-92871800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:92871600-92871800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:92871800-92874600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:92873200-92874600	Enhancers	Fetal Intestine Small	intestine
31	chr13:92873600-92874000	Enhancers	Fetal Intestine Large	intestine
32	chr13:92873800-92874600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:92873800-92874600	Enhancers	Ovary	ovary
34	chr13:92873800-92874800	Enhancers	NH-A	brain
35	chr13:92873800-92877400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr13:92874000-92876600	Weak transcription	Fetal Intestine Large	intestine
37	chr13:92874200-92874400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr13:92874200-92874600	Enhancers	Fetal Kidney	kidney
39	chr13:92874200-92874800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:92874400-92874800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr13:92874600-92875000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:92874600-92875200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:92874600-92875800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:92874600-92876600	Weak transcription	Fetal Intestine Small	intestine
45	chr13:92874600-92876800	Weak transcription	Ovary	ovary
46	chr13:92874800-92875000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr13:92874800-92875800	Weak transcription	NH-A	brain
48	chr13:92875000-92875400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr13:92875200-92877200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:92875400-92876200	Weak transcription	Rectal Mucosa Donor 29	rectum

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