Variant report

Variant	nsv1053695
Chromosome Location	chr13:94209916-94243088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94234119..94234981-chr3:29063764..29064299,2	MCF-7	breast:

Extended variants
information (count: 814 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41403347	chr13:94209916-94209917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571888789	chr13:94209933-94209934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9524131	chr13:94209956-94209957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs184025968	chr13:94209967-94209968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149975876	chr13:94209986-94209987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536352757	chr13:94210003-94210004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186833259	chr13:94210023-94210024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543114817	chr13:94210096-94210097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563545561	chr13:94210100-94210101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189672169	chr13:94210105-94210106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534792686	chr13:94210115-94210116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557811867	chr13:94210185-94210186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577859003	chr13:94210203-94210204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371720376	chr13:94210207-94210208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182758521	chr13:94210247-94210248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563306420	chr13:94210335-94210336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573645832	chr13:94210346-94210347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146547654	chr13:94210347-94210348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528837445	chr13:94210388-94210389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187293820	chr13:94210404-94210405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528712672	chr13:94210458-94210459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548913589	chr13:94210537-94210538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9584129	chr13:94210544-94210545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565484809	chr13:94210545-94210546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118139109	chr13:94210561-94210562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141418946	chr13:94210578-94210579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375073976	chr13:94210595-94210596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369397152	chr13:94210633-94210634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567347457	chr13:94210685-94210686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530018207	chr13:94210749-94210750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546725650	chr13:94210753-94210754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3910919	chr13:94210785-94210786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1445252	chr13:94210858-94210859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs192865804	chr13:94210869-94210870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571314444	chr13:94210876-94210877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537358924	chr13:94210926-94210927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550516925	chr13:94210954-94210955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570330010	chr13:94211006-94211007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9589766	chr13:94211017-94211018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145188925	chr13:94211019-94211020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542628749	chr13:94211033-94211034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185344471	chr13:94211078-94211079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1445253	chr13:94211102-94211103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs544729539	chr13:94211118-94211119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34516122	chr13:94211124-94211125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188610794	chr13:94211159-94211160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9561394	chr13:94211179-94211180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544534923	chr13:94211225-94211226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193107633	chr13:94211230-94211231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371162651	chr13:94211238-94211239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94192600-94212400	Weak transcription	HepG2	liver
2	chr13:94200600-94212000	Weak transcription	HSMM	muscle
3	chr13:94200800-94213800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:94202000-94212600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:94202000-94214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:94205400-94212600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:94205800-94212200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:94208000-94212000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:94208000-94213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:94208200-94210600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:94208200-94210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:94208200-94211600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:94208200-94211600	Weak transcription	NHEK	skin
14	chr13:94208200-94211800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:94208200-94213400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:94208400-94212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:94208400-94212600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:94209800-94210000	Enhancers	Fetal Intestine Large	intestine
19	chr13:94210600-94211200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:94210600-94211200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:94211200-94212200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:94211200-94212200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:94211600-94212200	Enhancers	A549	lung
24	chr13:94211600-94213400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:94211600-94213400	Enhancers	NHEK	skin
26	chr13:94211600-94214400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:94211800-94212600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:94211800-94213600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr13:94212000-94212400	Enhancers	NHDF-Ad	bronchial
30	chr13:94212000-94212400	Enhancers	Osteobl	bone
31	chr13:94212000-94212800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:94212000-94213000	Enhancers	HSMM	muscle
33	chr13:94212000-94213200	Enhancers	HMEC	breast
34	chr13:94212000-94213200	Enhancers	NH-A	brain
35	chr13:94212000-94215800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:94212200-94212400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:94212200-94212400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:94212200-94212600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr13:94212200-94212600	Enhancers	HSMMtube	muscle
40	chr13:94212200-94212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:94212200-94212800	Enhancers	Ovary	ovary
42	chr13:94212200-94213000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr13:94212200-94213800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:94212200-94213800	Weak transcription	A549	lung
45	chr13:94212200-94216000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr13:94212400-94212800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:94212400-94213200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:94212400-94214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:94212600-94212800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr13:94212600-94213000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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