Variant report

Variant	nsv1054643
Chromosome Location	chr13:63501148-63755650
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:10)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
2	chr13:63647679..63650483-chr20:26148365..26151073,2	K562	blood:
3	chr13:63637188..63639152-chr20:26145559..26148373,3	K562	blood:
4	chr13:63647812..63648534-chr20:26148535..26149113,2	MCF-7	breast:
5	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
6	chr13:63637281..63639152-chr20:26145559..26147940,2	K562	blood:
7	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
8	chr13:63619768..63621405-chr17:21665172..21666856,2	MCF-7	breast:
9	chr13:63647686..63648379-chr3:64675736..64676331,2	MCF-7	breast:
10	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-20	chr13:63506481-63506671	NONHSAT034156
2	lnc-PCDH20-20	chr13:63547376-63548145	NONHSAT034156
3	lnc-AL445989.1-3	chr13:63609108-63609165	NONHSAT034157
4	lnc-AL445989.1-3	chr13:63609109-63609165	XLOC_010410
5	lnc-AL445989.1-3	chr13:63671472-63671829	NONHSAT034157
6	lnc-AL445989.1-3	chr13:63671473-63671829	XLOC_010410

No data

Variant related genes	Relation type
DNMT1	miRNA target sites
PHF14	miRNA target sites

Extended variants
information (count: 5003 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:5003 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149726863	chr13:63501151-63501152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182655215	chr13:63501160-63501161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112317456	chr13:63501173-63501174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538106300	chr13:63501212-63501213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556416135	chr13:63501233-63501234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371340740	chr13:63501249-63501250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113574394	chr13:63501271-63501272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543116514	chr13:63501299-63501300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2204036	chr13:63501307-63501308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573236040	chr13:63501326-63501327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190292122	chr13:63501361-63501362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182456194	chr13:63501383-63501384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73497483	chr13:63501457-63501458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373579621	chr13:63501473-63501474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376441306	chr13:63501491-63501492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141243612	chr13:63501508-63501509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369923932	chr13:63501509-63501510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549607424	chr13:63501580-63501581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544473413	chr13:63501600-63501601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144494790	chr13:63501668-63501669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530190647	chr13:63501683-63501684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9539610	chr13:63501701-63501702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187490250	chr13:63501724-63501725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139243214	chr13:63501760-63501761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191949660	chr13:63501871-63501872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570436309	chr13:63501873-63501874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183964811	chr13:63501924-63501925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371100725	chr13:63501957-63501958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188866241	chr13:63501982-63501983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192357609	chr13:63502111-63502112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117549768	chr13:63502120-63502121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555072833	chr13:63502121-63502122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573241565	chr13:63502150-63502151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540294100	chr13:63502186-63502187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577186309	chr13:63502203-63502204	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558548748	chr13:63502231-63502232	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576778105	chr13:63502273-63502274	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78845216	chr13:63502297-63502298	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563028476	chr13:63502345-63502346	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376426455	chr13:63502349-63502350	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542044876	chr13:63502350-63502351	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7319460	chr13:63502362-63502363	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527407010	chr13:63502421-63502422	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552256539	chr13:63502434-63502435	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7319657	chr13:63502472-63502473	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs531323159	chr13:63502480-63502481	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542059723	chr13:63502504-63502505	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550096865	chr13:63502507-63502508	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568242546	chr13:63502553-63502554	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2875248	chr13:63502576-63502577	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63494000-63502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:63502200-63502600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:63502600-63502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:63503600-63504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:63505200-63505600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:63505400-63505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:63505400-63505800	Enhancers	NHDF-Ad	bronchial
8	chr13:63505400-63508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:63505600-63506200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:63505600-63506200	Enhancers	Rectal Smooth Muscle	rectum
11	chr13:63505600-63507000	Enhancers	Dnd41	blood
12	chr13:63505800-63506000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr13:63505800-63506200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:63506000-63506400	Enhancers	Colon Smooth Muscle	Colon
15	chr13:63506000-63506400	Active TSS	NHDF-Ad	bronchial
16	chr13:63506200-63507000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:63507000-63507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:63507000-63508000	Weak transcription	Dnd41	blood
19	chr13:63507600-63508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:63508000-63508200	Enhancers	Dnd41	blood
21	chr13:63518600-63520200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:63533800-63534600	Enhancers	Dnd41	blood
23	chr13:63534600-63538400	Weak transcription	Dnd41	blood
24	chr13:63534800-63535200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:63534800-63535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:63534800-63536200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:63535000-63535400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:63536200-63537000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:63537000-63537400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:63537400-63537800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:63537800-63539000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:63538400-63539600	Enhancers	Dnd41	blood
33	chr13:63551400-63554600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:63554400-63555000	Enhancers	Dnd41	blood
35	chr13:63554600-63555000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:63555000-63563000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:63558600-63559000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr13:63559400-63560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:63569800-63570000	Enhancers	Dnd41	blood
40	chr13:63570000-63571200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr13:63570000-63572200	Flanking Active TSS	Dnd41	blood
42	chr13:63570200-63571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:63570200-63572200	Enhancers	Fetal Thymus	thymus
44	chr13:63570400-63571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:63570600-63572200	Enhancers	Primary hematopoietic stem cells	blood
46	chr13:63571000-63572200	Enhancers	Primary T cells from cord blood	blood
47	chr13:63571000-63572200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:63571200-63572000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr13:63571200-63572000	Enhancers	Thymus	Thymus
50	chr13:63571400-63571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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