Variant report

Variant	nsv826684
Chromosome Location	chr13:66234679-66356239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:66296680..66298971-chr13:66300615..66302352,2	MCF-7	breast:
2	chr13:66355137..66357196-chr13:66362374..66364366,2	K562	blood:
3	chr13:66296680..66298971-chr13:66300615..66302352,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236565	chromatin interactions

Extended variants
information (count: 891 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556463266	chr13:66244228-66244229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569988889	chr13:66244254-66244255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368764439	chr13:66244256-66244257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550103159	chr13:66244291-66244292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144296449	chr13:66244296-66244297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537479870	chr13:66244315-66244316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555457954	chr13:66244340-66244341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555583922	chr13:66244376-66244377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78923298	chr13:66244384-66244385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572309470	chr13:66244410-66244411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79424292	chr13:66244464-66244465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs118008218	chr13:66244493-66244494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577926218	chr13:66244507-66244508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543466459	chr13:66244546-66244547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186284493	chr13:66244572-66244573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs188642681	chr13:66244573-66244574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566258369	chr13:66244591-66244592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540075905	chr13:66244604-66244605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367907480	chr13:66244612-66244613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74091928	chr13:66244616-66244617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375356092	chr13:66244617-66244618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547428807	chr13:66244624-66244625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552097144	chr13:66244625-66244626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181313149	chr13:66244662-66244663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532915516	chr13:66244712-66244713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549779783	chr13:66244714-66244715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs367989342	chr13:66244718-66244719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570281061	chr13:66244719-66244720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs185903491	chr13:66244729-66244730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142290318	chr13:66244735-66244736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs535738382	chr13:66244742-66244743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547531511	chr13:66244777-66244778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74091929	chr13:66244780-66244781	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111432715	chr13:66244787-66244788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565818825	chr13:66244795-66244796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190870737	chr13:66244819-66244820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77983041	chr13:66244860-66244861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75710447	chr13:66244869-66244870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7321759	chr13:66244905-66244906	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77480352	chr13:66244920-66244921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573747181	chr13:66244933-66244934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143487886	chr13:66244951-66244952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369793379	chr13:66244960-66244961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183911985	chr13:66244978-66244979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559614510	chr13:66249608-66249609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550024821	chr13:66249621-66249622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141398006	chr13:66249630-66249631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551145716	chr13:66249655-66249656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571151657	chr13:66249679-66249680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35412459	chr13:66249695-66249696	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66244200-66245000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:66249600-66249800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:66251800-66252800	Enhancers	Osteobl	bone
4	chr13:66252000-66252400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr13:66252000-66252400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:66252000-66252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:66252000-66252600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:66252000-66252600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:66252000-66252600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:66252200-66252600	Enhancers	Hela-S3	cervix
11	chr13:66252600-66253000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:66252800-66253200	Weak transcription	Osteobl	bone
13	chr13:66253000-66253600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:66253200-66253800	Enhancers	Osteobl	bone
15	chr13:66260600-66267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:66263200-66267000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:66267000-66267200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:66267000-66267600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:66267000-66267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:66284600-66285200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:66298000-66298800	Enhancers	Dnd41	blood
22	chr13:66298200-66298600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:66298200-66298600	Enhancers	Fetal Stomach	stomach
24	chr13:66298200-66298800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:66298200-66298800	Enhancers	Fetal Kidney	kidney
26	chr13:66298200-66298800	Enhancers	NHDF-Ad	bronchial
27	chr13:66298200-66299400	Enhancers	Fetal Lung	lung
28	chr13:66298200-66299800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:66298200-66300200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:66298800-66299200	Weak transcription	Fetal Kidney	kidney
31	chr13:66299200-66299800	Enhancers	Fetal Kidney	kidney
32	chr13:66299400-66299800	Enhancers	Fetal Heart	heart
33	chr13:66307000-66307600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:66318200-66319600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:66318400-66318800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:66318400-66319600	Enhancers	Osteobl	bone
37	chr13:66318800-66319000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:66318800-66319400	Enhancers	Adipose Nuclei	Adipose
39	chr13:66318800-66320600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:66319000-66319600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:66330600-66331400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr13:66336600-66337200	Enhancers	Fetal Kidney	kidney
43	chr13:66342600-66343200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:66343000-66343400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr13:66343000-66343400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr13:66347000-66347200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:66347200-66349800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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