Variant report

Variant	nsv1038150
Chromosome Location	chr13:65224379-65354892
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:8)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65293521..65294041-chr8:107636082..107636585,2	MCF-7	breast:
2	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
3	chr13:65332252..65334567-chr13:65336967..65338789,2	K562	blood:
4	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
5	chr13:65286215..65288763-chr13:65291876..65293439,2	K562	blood:
6	chr13:65274620..65276481-chr13:65278666..65280880,2	MCF-7	breast:
7	chr12:69004648..69007002-chr13:65338136..65340765,2	MCF-7	breast:
8	chr13:65332252..65334567-chr13:65336967..65338789,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-22	chr13:65338174-65338376	l_866_chr13:65338173-65350330_testes
2	lnc-AL445989.1-22	chr13:65349990-65350352	NONHSAT034192
3	lnc-AL445989.1-22	chr13:65349990-65350330	l_866_chr13:65338173-65350330_testes
4	lnc-AL445989.1-22	chr13:65347836-65347902	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: 3437 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3437 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558200998	chr13:65224468-65224469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576359561	chr13:65224488-65224489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144228687	chr13:65224527-65224528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182933177	chr13:65224561-65224562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573795131	chr13:65224618-65224619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540825853	chr13:65224620-65224621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552867086	chr13:65224652-65224653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6650414	chr13:65224680-65224681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs359409	chr13:65224708-65224709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs9598821	chr13:65224772-65224773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563159629	chr13:65224799-65224800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115471975	chr13:65224810-65224811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550239149	chr13:65224837-65224838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568724583	chr13:65224839-65224840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577132483	chr13:65224862-65224863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529556040	chr13:65224920-65224921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548012094	chr13:65224980-65224981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566244205	chr13:65224982-65224983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549454650	chr13:65225011-65225012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192467290	chr13:65225121-65225122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74793020	chr13:65225123-65225124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112968776	chr13:65225189-65225190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147633928	chr13:65225209-65225210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140519397	chr13:65225259-65225260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182957248	chr13:65225339-65225340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536493167	chr13:65225434-65225435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553621407	chr13:65225499-65225500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373336553	chr13:65225573-65225574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9598822	chr13:65225632-65225633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142143924	chr13:65225634-65225635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369470263	chr13:65225681-65225682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200255927	chr13:65225729-65225730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372222910	chr13:65225849-65225850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375209405	chr13:65225898-65225899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530121465	chr13:65225907-65225908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563378087	chr13:65225913-65225914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151169704	chr13:65225924-65225925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187578556	chr13:65225931-65225932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564098093	chr13:65225977-65225978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560672905	chr13:65225989-65225990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369307884	chr13:65226005-65226006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201432940	chr13:65226019-65226020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529631484	chr13:65226033-65226034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7987842	chr13:65226052-65226053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560019935	chr13:65226057-65226058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80004729	chr13:65226081-65226082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377407789	chr13:65226094-65226095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540876593	chr13:65226110-65226111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541959381	chr13:65226126-65226127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9528800	chr13:65226165-65226166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65218200-65236800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:65228600-65231000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:65236800-65237400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:65236800-65238200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:65237000-65237200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:65237000-65237600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:65238000-65238200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:65238200-65238800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:65246600-65247400	Enhancers	NHEK	skin
10	chr13:65246800-65247400	Enhancers	HMEC	breast
11	chr13:65247000-65247200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:65247000-65247400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:65247200-65248200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:65247200-65249600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:65247400-65247600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:65247400-65248400	Weak transcription	HMEC	breast
17	chr13:65247400-65248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:65247400-65249800	Weak transcription	NHEK	skin
19	chr13:65247600-65248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:65248200-65248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:65248400-65249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:65248400-65250400	Enhancers	HMEC	breast
23	chr13:65248600-65248800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:65248600-65249200	Enhancers	A549	lung
25	chr13:65248600-65250200	Enhancers	NH-A	brain
26	chr13:65248600-65250400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:65248600-65250600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:65248800-65249600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:65248800-65249600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:65248800-65249600	Enhancers	Hela-S3	cervix
31	chr13:65248800-65250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:65248800-65250000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:65248800-65250000	Enhancers	NHDF-Ad	bronchial
34	chr13:65248800-65250400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:65249200-65249400	Weak transcription	A549	lung
36	chr13:65249200-65249800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:65249400-65249800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr13:65249400-65250400	Active TSS	A549	lung
39	chr13:65249600-65249800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:65249600-65250000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:65249600-65250000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr13:65249600-65250000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:65249600-65250000	Flanking Active TSS	Hela-S3	cervix
44	chr13:65249600-65250000	Enhancers	HepG2	liver
45	chr13:65249800-65250000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:65249800-65250000	Enhancers	NHEK	skin
47	chr13:65249800-65252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr13:65250000-65250400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr13:65250000-65250400	Enhancers	Hela-S3	cervix
50	chr13:65250000-65263000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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