Variant report

Variant	esv3354112
Chromosome Location	chr13:63615651-63623449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
2	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:
3	chr13:63619768..63621405-chr17:21665172..21666856,2	MCF-7	breast:

Extended variants
information (count: 705 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118188337	chr13:63615811-63615812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201176650	chr13:63615831-63615832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112596446	chr13:63615838-63615839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11300428	chr13:63615839-63615840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568184342	chr13:63615855-63615856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151133895	chr13:63615861-63615862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74086650	chr13:63615864-63615865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117404047	chr13:63615865-63615866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553524919	chr13:63615881-63615882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61956180	chr13:63615922-63615923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79468806	chr13:63615948-63615949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201035205	chr13:63615949-63615950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76303089	chr13:63615954-63615955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190327619	chr13:63615960-63615961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536441759	chr13:63615961-63615962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182745435	chr13:63615966-63615967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530225555	chr13:63615972-63615973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575891087	chr13:63615973-63615974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373804547	chr13:63615974-63615975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113410396	chr13:63615978-63615979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113489731	chr13:63615984-63615985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555112566	chr13:63615988-63615989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112108474	chr13:63615990-63615991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4884447	chr13:63615997-63615998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79671396	chr13:63616003-63616004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61956181	chr13:63616015-63616016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538463375	chr13:63616016-63616017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78770267	chr13:63616017-63616018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542293951	chr13:63616043-63616044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560325559	chr13:63616050-63616051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200576238	chr13:63616070-63616071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76234781	chr13:63616097-63616098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150385306	chr13:63616101-63616102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74538771	chr13:63616110-63616111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76825041	chr13:63616115-63616116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117602637	chr13:63616126-63616127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79603809	chr13:63616127-63616128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369432037	chr13:63616141-63616142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113850758	chr13:63616153-63616154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112579693	chr13:63616172-63616173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61956182	chr13:63616177-63616178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17087927	chr13:63616197-63616198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569375643	chr13:63616207-63616208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79785240	chr13:63616215-63616216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112386146	chr13:63616225-63616226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs118021207	chr13:63616233-63616234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564787223	chr13:63616239-63616240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112547161	chr13:63616250-63616251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138706489	chr13:63616257-63616258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75702587	chr13:63616279-63616280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63615800-63616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:63616000-63617200	Enhancers	Fetal Lung	lung
3	chr13:63616000-63619000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:63616600-63616800	Weak transcription	Psoas Muscle	Psoas
5	chr13:63617000-63617200	ZNF genes & repeats	Psoas Muscle	Psoas
6	chr13:63617200-63618800	Weak transcription	Fetal Lung	lung
7	chr13:63617200-63619800	Weak transcription	Psoas Muscle	Psoas
8	chr13:63618600-63619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:63618600-63619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:63618600-63619000	Enhancers	Colon Smooth Muscle	Colon
11	chr13:63618800-63619000	Active TSS	Lung	lung
12	chr13:63618800-63619200	Enhancers	Fetal Lung	lung
13	chr13:63618800-63619200	Enhancers	Pancreas	Pancrea
14	chr13:63618800-63619200	Enhancers	Stomach Smooth Muscle	stomach
15	chr13:63619000-63619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:63619000-63619200	Flanking Active TSS	Lung	lung
17	chr13:63619200-63619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:63619600-63620400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:63621200-63622000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:63621200-63627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr13:63621400-63621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:63621400-63621800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:63621400-63622200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr13:63621400-63622400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr13:63621400-63622400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:63621600-63621800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr13:63621600-63622200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:63621600-63622200	Enhancers	K562	blood
29	chr13:63621600-63622200	ZNF genes & repeats	NHDF-Ad	bronchial
30	chr13:63621800-63622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:63621800-63622200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr13:63622000-63622400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr13:63622200-63622400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr13:63622200-63624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:63622200-63625400	Weak transcription	K562	blood
36	chr13:63622400-63623800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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