Variant report

Variant	nsv455909
Chromosome Location	chr13:63559475-63657191
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:2)
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	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
2	chr13:63647679..63650483-chr20:26148365..26151073,2	K562	blood:
3	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:
4	chr13:63637188..63639152-chr20:26145559..26148373,3	K562	blood:
5	chr13:63637281..63639152-chr20:26145559..26147940,2	K562	blood:
6	chr13:63619768..63621405-chr17:21665172..21666856,2	MCF-7	breast:
7	chr13:63647686..63648379-chr3:64675736..64676331,2	MCF-7	breast:
8	chr13:63647812..63648534-chr20:26148535..26149113,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-3	chr13:63609108-63609165	NONHSAT034157
2	lnc-AL445989.1-3	chr13:63609109-63609165	XLOC_010410

No data

Variant related genes	Relation type
DNMT1	miRNA target sites

Extended variants
information (count: 2890 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2890 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs975423	chr13:63559475-63559476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545041177	chr13:63559493-63559494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564042709	chr13:63559505-63559506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531088038	chr13:63559511-63559512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57940866	chr13:63559516-63559517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146550049	chr13:63559528-63559529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528652595	chr13:63559580-63559581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533557449	chr13:63559597-63559598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369339898	chr13:63559631-63559632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187648975	chr13:63559685-63559686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61949611	chr13:63559687-63559688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145576842	chr13:63559725-63559726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528431729	chr13:63559729-63559730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550287475	chr13:63559735-63559736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73499695	chr13:63559783-63559784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547146483	chr13:63559820-63559821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566968862	chr13:63559828-63559829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35287141	chr13:63559835-63559836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2805932	chr13:63559893-63559894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191313120	chr13:63560009-63560010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566333693	chr13:63560094-63560095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533711398	chr13:63560098-63560099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553067978	chr13:63560118-63560119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117192726	chr13:63560197-63560198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138007930	chr13:63560210-63560211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557073965	chr13:63560211-63560212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369488367	chr13:63560217-63560218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78894390	chr13:63560314-63560315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543349531	chr13:63560317-63560318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561516083	chr13:63560353-63560354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551703548	chr13:63560359-63560360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540793837	chr13:63560380-63560381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140844705	chr13:63560382-63560383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571526713	chr13:63560409-63560410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550593447	chr13:63560429-63560430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150112698	chr13:63560435-63560436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182712733	chr13:63560515-63560516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61469127	chr13:63560526-63560527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566396333	chr13:63560556-63560557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs976195	chr13:63560603-63560604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552063017	chr13:63560605-63560606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571758426	chr13:63560606-63560607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200506441	chr13:63560607-63560608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557384690	chr13:63560624-63560625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575549588	chr13:63560641-63560642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7988724	chr13:63560649-63560650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571385838	chr13:63560665-63560666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7987722	chr13:63560677-63560678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs976194	chr13:63560685-63560686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540877761	chr13:63560716-63560717	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63555000-63563000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:63559400-63560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:63569800-63570000	Enhancers	Dnd41	blood
4	chr13:63570000-63571200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:63570000-63572200	Flanking Active TSS	Dnd41	blood
6	chr13:63570200-63571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:63570200-63572200	Enhancers	Fetal Thymus	thymus
8	chr13:63570400-63571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:63570600-63572200	Enhancers	Primary hematopoietic stem cells	blood
10	chr13:63571000-63572200	Enhancers	Primary T cells from cord blood	blood
11	chr13:63571000-63572200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:63571200-63572000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr13:63571200-63572000	Enhancers	Thymus	Thymus
14	chr13:63571400-63571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:63571600-63571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:63571800-63572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:63572000-63573000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:63572000-63573200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:63572200-63572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:63572200-63573800	Enhancers	Dnd41	blood
21	chr13:63573800-63575600	Weak transcription	Dnd41	blood
22	chr13:63575600-63576000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:63575600-63577000	Enhancers	Dnd41	blood
24	chr13:63582600-63584800	ZNF genes & repeats	Dnd41	blood
25	chr13:63583400-63585000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:63583800-63584200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:63584000-63584600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:63596200-63596800	Enhancers	Dnd41	blood
29	chr13:63597600-63597800	Enhancers	Brain Anterior Caudate	brain
30	chr13:63597800-63600400	Weak transcription	Brain Anterior Caudate	brain
31	chr13:63598600-63598800	Enhancers	Brain Hippocampus Middle	brain
32	chr13:63598800-63601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:63599000-63600000	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:63599600-63600800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:63600000-63600400	Active TSS	Brain Hippocampus Middle	brain
36	chr13:63600000-63600800	Enhancers	Brain Cingulate Gyrus	brain
37	chr13:63600400-63600600	Enhancers	Brain Anterior Caudate	brain
38	chr13:63600400-63600800	Enhancers	Brain Hippocampus Middle	brain
39	chr13:63600600-63600800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr13:63600600-63600800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr13:63600600-63600800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:63600600-63600800	Enhancers	Brain Substantia Nigra	brain
43	chr13:63615800-63616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:63616000-63617200	Enhancers	Fetal Lung	lung
45	chr13:63616000-63619000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:63616600-63616800	Weak transcription	Psoas Muscle	Psoas
47	chr13:63617000-63617200	ZNF genes & repeats	Psoas Muscle	Psoas
48	chr13:63617200-63618800	Weak transcription	Fetal Lung	lung
49	chr13:63617200-63619800	Weak transcription	Psoas Muscle	Psoas
50	chr13:63618600-63619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links