Variant report

Variant	nsv1035144
Chromosome Location	chr13:94283044-94352174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92008178..92010162-chr13:94344904..94347693,2	K562	blood:
2	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:
3	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-7	chr13:94287787-94288466	NONHSAT034713

Extended variants
information (count: 1919 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3899316	chr13:94283044-94283045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532124678	chr13:94283092-94283093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3899317	chr13:94283094-94283095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562041329	chr13:94283101-94283102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371152969	chr13:94283102-94283103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537803066	chr13:94283106-94283107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141932702	chr13:94283113-94283114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548378399	chr13:94283122-94283123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114276763	chr13:94283123-94283124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564554730	chr13:94283124-94283125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569190662	chr13:94283158-94283159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12868567	chr13:94283177-94283178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192199138	chr13:94283218-94283219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563657614	chr13:94283255-94283256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114831476	chr13:94283291-94283292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568153730	chr13:94283348-94283349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371857988	chr13:94283369-94283370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568352167	chr13:94283393-94283394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73543536	chr13:94283396-94283397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74454235	chr13:94283418-94283419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184419731	chr13:94283425-94283426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538110598	chr13:94283526-94283527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553987479	chr13:94283529-94283530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201041408	chr13:94283530-94283531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71202590	chr13:94283532-94283533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9589798	chr13:94283533-94283534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376670028	chr13:94283561-94283562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534342771	chr13:94283564-94283565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8000462	chr13:94283567-94283568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553968648	chr13:94283575-94283576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535073865	chr13:94283582-94283583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545794395	chr13:94283591-94283592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554980276	chr13:94283641-94283642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567167129	chr13:94283652-94283653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576853338	chr13:94283659-94283660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572384803	chr13:94283697-94283698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541349477	chr13:94283707-94283708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558298776	chr13:94283740-94283741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57168971	chr13:94283763-94283764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7995407	chr13:94283764-94283765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192889229	chr13:94283800-94283801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185198886	chr13:94283826-94283827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188879853	chr13:94283837-94283838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138885453	chr13:94283848-94283849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576333482	chr13:94283852-94283853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559813248	chr13:94283853-94283854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142933625	chr13:94283892-94283893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117113142	chr13:94283901-94283902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542120127	chr13:94283922-94283923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367555611	chr13:94283954-94283955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94281000-94283400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:94281000-94287800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:94283400-94283600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:94284400-94287600	Weak transcription	Fetal Brain Female	brain
5	chr13:94287000-94287200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:94287200-94287800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:94287400-94287800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:94287400-94288400	Enhancers	Fetal Brain Male	brain
9	chr13:94287600-94287800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:94287600-94288000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:94287600-94288000	Enhancers	Fetal Brain Female	brain
12	chr13:94287800-94288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:94287800-94288200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:94287800-94288200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:94287800-94288400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:94287800-94288400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:94287800-94288600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:94287800-94288600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:94287800-94288800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:94287800-94288800	Enhancers	Osteobl	bone
21	chr13:94288000-94288200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:94288000-94288400	Enhancers	Adipose Nuclei	Adipose
23	chr13:94288000-94288600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:94288000-94289400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:94288400-94288600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:94288400-94289200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:94288600-94288800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:94288600-94288800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:94288600-94289000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:94288800-94289000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr13:94289200-94289800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:94289800-94290000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:94294600-94294800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:94294800-94295800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:94295000-94296200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:94295400-94298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:94295800-94296400	Enhancers	Fetal Brain Female	brain
38	chr13:94295800-94301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:94296400-94304800	Weak transcription	Fetal Brain Female	brain
40	chr13:94298400-94298600	Enhancers	Liver	Liver
41	chr13:94298400-94299000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:94298600-94299000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:94300400-94301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:94301600-94302200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:94302200-94302400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:94302400-94302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:94302400-94302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:94302600-94303000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:94302600-94303200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:94302600-94303800	Enhancers	Fetal Brain Male	brain

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