Variant report

Variant	nsv900464
Chromosome Location	chr13:69565834-69600837
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69577914..69580803-chr13:69584083..69586306,2	K562	blood:
2	chr13:69591603..69593208-chr13:69593619..69596259,2	K562	blood:
3	chr13:69584341..69586393-chr13:69588333..69590253,2	K562	blood:
4	chr13:52026657..52027294-chr13:69594051..69594992,2	Hela-S3	cervix:
5	chr13:69577123..69579403-chr13:69580839..69583998,3	K562	blood:
6	chr13:69583714..69586393-chr13:69587871..69590253,3	K562	blood:
7	chr13:69588937..69591463-chr13:69592795..69594701,2	MCF-7	breast:
8	chr13:69577914..69580803-chr13:69584083..69586306,2	K562	blood:
9	chr13:69577123..69579403-chr13:69580839..69583998,3	K562	blood:
10	chr13:69591603..69593208-chr13:69593619..69596259,2	K562	blood:
11	chr13:69583714..69586393-chr13:69587871..69590253,3	K562	blood:
12	chr13:69584341..69586393-chr13:69588333..69590253,2	K562	blood:
13	chr13:69588937..69591463-chr13:69592795..69594701,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102786	chromatin interactions

Extended variants
information (count: 581 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9529475	chr13:69565834-69565835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192022884	chr13:69565908-69565909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373512668	chr13:69565963-69565964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201049272	chr13:69565969-69565970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9529476	chr13:69565970-69565971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554433182	chr13:69565974-69565975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183340623	chr13:69565993-69565994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188550805	chr13:69566005-69566006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553701768	chr13:69566014-69566015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191717363	chr13:69566067-69566068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146601974	chr13:69566077-69566078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565426958	chr13:69566087-69566088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575700193	chr13:69566088-69566089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544628264	chr13:69566091-69566092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9541682	chr13:69566094-69566095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530348254	chr13:69566112-69566113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140194363	chr13:69566115-69566116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560504605	chr13:69566132-69566133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557970598	chr13:69566135-69566136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532768612	chr13:69566140-69566141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182372574	chr13:69566184-69566185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200334804	chr13:69566296-69566297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376621819	chr13:69566301-69566302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551849880	chr13:69566309-69566310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117559832	chr13:69566349-69566350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143857225	chr13:69566373-69566374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186815086	chr13:69566381-69566382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568313030	chr13:69566426-69566427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146668814	chr13:69566444-69566445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564778844	chr13:69566455-69566456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73521910	chr13:69566494-69566495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576961064	chr13:69566516-69566517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191238638	chr13:69566519-69566520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531991365	chr13:69566583-69566584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185817483	chr13:69566623-69566624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61952224	chr13:69566648-69566649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs61952225	chr13:69566654-69566655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190291188	chr13:69566678-69566679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9592597	chr13:69566694-69566695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9529477	chr13:69566706-69566707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193223391	chr13:69566715-69566716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185221915	chr13:69566766-69566767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9572073	chr13:69566768-69566769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11840232	chr13:69566826-69566827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545994380	chr13:69566843-69566844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534730390	chr13:69566844-69566845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562195103	chr13:69566852-69566853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566675753	chr13:69566856-69566857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77060384	chr13:69566862-69566863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547918076	chr13:69566902-69566903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69558000-69570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:69563800-69569800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:69564200-69569400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:69567400-69567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:69569400-69571200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:69569400-69571800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:69569600-69571800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:69569800-69570200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:69569800-69571200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:69570200-69570400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:69570200-69570600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr13:69570200-69570600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:69570200-69571200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:69570400-69571000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:69570400-69571000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr13:69570600-69571000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:69570600-69571200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:69571000-69571200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr13:69583600-69585800	Active TSS	K562	blood
20	chr13:69584400-69584600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:69584600-69587600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:69587600-69588400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:69587600-69590200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:69587800-69588800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:69588000-69588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:69590200-69590400	Enhancers	H9 Cell Line	embryonic stem cell

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