Variant report

Variant	nsv900912
Chromosome Location	chr13:93800114-93853929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93847246..93849434-chr13:93878377..93880915,2	MCF-7	breast:
2	chr13:93852509..93854417-chr13:93874503..93876110,2	K562	blood:
3	chr13:93822312..93824995-chr13:93884132..93886825,2	MCF-7	breast:
4	chr13:93851878..93853804-chr13:93880087..93882810,2	K562	blood:
5	chr13:93822688..93825066-chr13:93878465..93880746,2	MCF-7	breast:
6	chr13:93814948..93816850-chr13:93879832..93881528,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183098	chromatin interactions

Extended variants
information (count: 669 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs317307	chr13:93800114-93800115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574087614	chr13:93800120-93800121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192603713	chr13:93800221-93800222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564856414	chr13:93800228-93800229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117143451	chr13:93800240-93800241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550233430	chr13:93800257-93800258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572180335	chr13:93800263-93800264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567038591	chr13:93800264-93800265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142503654	chr13:93800307-93800308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16952658	chr13:93800377-93800378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143866576	chr13:93800396-93800397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539361506	chr13:93800397-93800398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558997853	chr13:93800415-93800416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575550394	chr13:93800422-93800423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374904126	chr13:93800472-93800473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs161006	chr13:93800529-93800530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555081538	chr13:93800584-93800585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575011959	chr13:93800586-93800587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375818155	chr13:93800641-93800642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184537566	chr13:93800651-93800652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36160183	chr13:93800674-93800675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559625647	chr13:93800693-93800694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572960739	chr13:93800706-93800707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs317306	chr13:93800731-93800732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150789776	chr13:93800757-93800758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139779481	chr13:93800758-93800759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9301861	chr13:93800772-93800773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147205232	chr13:93800829-93800830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188182936	chr13:93800861-93800862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546782285	chr13:93800879-93800880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573065652	chr13:93800886-93800887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567015409	chr13:93800906-93800907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532603383	chr13:93800907-93800908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191429876	chr13:93800947-93800948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183606372	chr13:93800951-93800952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189694748	chr13:93801044-93801045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140807740	chr13:93801045-93801046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181235290	chr13:93801049-93801050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568842437	chr13:93801062-93801063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372789473	chr13:93801098-93801099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200126366	chr13:93801121-93801122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553976607	chr13:93801140-93801141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375287143	chr13:93801173-93801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185230002	chr13:93801211-93801212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149807622	chr13:93801214-93801215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575188021	chr13:93801240-93801241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201343414	chr13:93801301-93801302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543803427	chr13:93801380-93801381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145698358	chr13:93801419-93801420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78811253	chr13:93801450-93801451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Gastrointestinal stromal cancer	20818650	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
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93796400-93800200	Enhancers	Fetal Intestine Large	intestine
2	chr13:93797600-93800400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:93798600-93800400	Enhancers	Osteobl	bone
4	chr13:93798800-93800200	Enhancers	HSMM	muscle
5	chr13:93799000-93802400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr13:93799200-93800400	Enhancers	HMEC	breast
7	chr13:93799400-93800400	Enhancers	NH-A	brain
8	chr13:93800000-93802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:93800000-93802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:93800000-93802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:93800000-93803000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:93800000-93803000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:93800000-93803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:93800000-93803400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr13:93800200-93803400	Weak transcription	HSMM	muscle
16	chr13:93800400-93802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:93800400-93802400	Weak transcription	HMEC	breast
18	chr13:93800400-93803000	Weak transcription	Osteobl	bone
19	chr13:93800400-93803200	Weak transcription	NH-A	brain
20	chr13:93802200-93804800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:93802400-93802600	Enhancers	HMEC	breast
22	chr13:93802400-93802800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr13:93802400-93803000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:93802400-93804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:93802600-93803000	Weak transcription	HMEC	breast
26	chr13:93802600-93803600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:93802800-93804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:93802800-93804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:93803000-93804000	Enhancers	HMEC	breast
30	chr13:93803000-93804400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:93803000-93804600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:93803000-93804800	Enhancers	Osteobl	bone
33	chr13:93803200-93803600	Enhancers	NHDF-Ad	bronchial
34	chr13:93803200-93804000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:93803200-93804400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:93803200-93804400	Enhancers	NH-A	brain
37	chr13:93803400-93804000	Enhancers	HSMM	muscle
38	chr13:93803400-93804000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr13:93803600-93804400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:93804400-93806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:93804600-93804800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:93821400-93823000	Enhancers	NHEK	skin
43	chr13:93821400-93823200	Enhancers	HMEC	breast
44	chr13:93821600-93822000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:93821600-93822400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:93821600-93823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:93821600-93823200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:93821800-93822800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:93821800-93823200	Enhancers	NH-A	brain
50	chr13:93822000-93822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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