Variant report

Variant	nsv1042755
Chromosome Location	chr13:65300441-65400043
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65332252..65334567-chr13:65336967..65338789,2	K562	blood:
2	chr13:65332252..65334567-chr13:65336967..65338789,2	K562	blood:
3	chr12:69004648..69007002-chr13:65338136..65340765,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-22	chr13:65349990-65350352	NONHSAT034192
2	lnc-AL445989.1-22	chr13:65349990-65350330	l_866_chr13:65338173-65350330_testes
3	lnc-AL445989.1-22	chr13:65347836-65347902	l_866_chr13:65338173-65350330_testes
4	lnc-AL445989.1-22	chr13:65338174-65338376	l_866_chr13:65338173-65350330_testes
5	lnc-AL445989.1-22	chr13:65347840-65347902	NONHSAT034192
6	lnc-AL445989.1-22	chr13:65338307-65338376	NONHSAT034192

No data

Variant related genes	Relation type
ENSG00000127314	chromatin interactions

Extended variants
information (count: 1800 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1800 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151305292	chr13:65310026-65310027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34313165	chr13:65310031-65310032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7320529	chr13:65310051-65310052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190876928	chr13:65310054-65310055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577624516	chr13:65310079-65310080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141712169	chr13:65310099-65310100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556686336	chr13:65310127-65310128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573492405	chr13:65310157-65310158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182684004	chr13:65310178-65310179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75079459	chr13:65310188-65310189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575675308	chr13:65313027-65313028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530286950	chr13:65313049-65313050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76669216	chr13:65313053-65313054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577227220	chr13:65313056-65313057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545897923	chr13:65313063-65313064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376722814	chr13:65313064-65313065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185545061	chr13:65313094-65313095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542055402	chr13:65313130-65313131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74778720	chr13:65313162-65313163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150503313	chr13:65313167-65313168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139850499	chr13:65313176-65313177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192232012	chr13:65313800-65313801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541356455	chr13:65313812-65313813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565531613	chr13:65313836-65313837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564838900	chr13:65313929-65313930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71442642	chr13:65313948-65313949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576891505	chr13:65313972-65313973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541617218	chr13:65314006-65314007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545841989	chr13:65314022-65314023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562541197	chr13:65314062-65314063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527535104	chr13:65314064-65314065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55723943	chr13:65314065-65314066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398056482	chr13:65314073-65314074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531449802	chr13:65314078-65314079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144816221	chr13:65314087-65314088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561738028	chr13:65314097-65314098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182749378	chr13:65314113-65314114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547367800	chr13:65314132-65314133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570761726	chr13:65314150-65314151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115019941	chr13:65314151-65314152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549776233	chr13:65314166-65314167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545702832	chr13:65314204-65314205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564471713	chr13:65314267-65314268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532715902	chr13:65314276-65314277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535555099	chr13:65314300-65314301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544775754	chr13:65314329-65314330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555874403	chr13:65314331-65314332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572537936	chr13:65314353-65314354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114640105	chr13:65314405-65314406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186041786	chr13:65314413-65314414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Multiple myeloma	17550852	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65310000-65310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:65313000-65313200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:65313800-65314400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:65314400-65314800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:65314800-65333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:65318000-65318400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:65318000-65318400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:65318000-65318400	Enhancers	Fetal Brain Male	brain
9	chr13:65318200-65318400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:65318200-65318400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:65318400-65320200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:65318400-65320200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:65318400-65320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:65318400-65320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:65318400-65321000	Weak transcription	Fetal Brain Male	brain
16	chr13:65320200-65321400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:65320200-65322400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:65320400-65321800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:65320800-65321000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:65320800-65321400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:65320800-65321800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:65320800-65322000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:65321000-65321400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr13:65321000-65321600	Enhancers	Fetal Brain Male	brain
25	chr13:65321400-65321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:65321400-65321800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:65321400-65322200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:65321400-65322600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:65321400-65323600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr13:65321800-65322400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:65321800-65323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:65322000-65323600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:65322200-65324200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:65322400-65323400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:65322400-65323400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr13:65322600-65323000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:65323000-65324400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:65323400-65323800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr13:65323400-65324000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:65323400-65324400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr13:65323600-65324400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr13:65323600-65324600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:65323800-65324000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:65323800-65324400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr13:65324000-65327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:65324200-65324400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr13:65324400-65330600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr13:65324600-65332400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:65327200-65327400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:65327200-65327600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links