Variant report

Variant	nsv977252
Chromosome Location	chr13:64622723-64641183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:64625157..64626688-chr13:64631104..64632843,2	K562	blood:
2	chr13:64637404..64639561-chr13:64642021..64643825,2	K562	blood:
3	chr13:64637718..64641008-chr13:64648657..64651427,4	K562	blood:
4	chr13:64632651..64634373-chr13:64649799..64652213,2	K562	blood:
5	chr13:64629925..64632065-chr13:64645172..64647089,2	K562	blood:
6	chr13:64573569..64576340-chr13:64627433..64629862,2	K562	blood:
7	chr13:64625157..64626688-chr13:64631104..64632843,2	K562	blood:

Variant related genes	Relation type
ENSG00000227674	chromatin interactions

Extended variants
information (count: 605 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114388106	chr13:64623426-64623427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146333213	chr13:64623436-64623437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12583929	chr13:64623557-64623558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147648101	chr13:64623572-64623573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192070261	chr13:64623573-64623574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7984556	chr13:64623602-64623603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113427431	chr13:64623641-64623642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184424535	chr13:64623648-64623649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539507010	chr13:64623650-64623651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35538449	chr13:64623673-64623674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557843352	chr13:64623703-64623704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569204502	chr13:64623740-64623741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188827889	chr13:64623750-64623751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76201560	chr13:64623774-64623775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573852097	chr13:64623831-64623832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541322528	chr13:64623913-64623914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79972792	chr13:64623914-64623915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142268947	chr13:64623940-64623941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544751361	chr13:64623957-64623958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201101846	chr13:64623963-64623964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146032945	chr13:64624001-64624002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530655623	chr13:64624010-64624011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138565282	chr13:64624031-64624032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376035533	chr13:64624038-64624039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149271949	chr13:64624066-64624067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs156106	chr13:64624120-64624121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548075724	chr13:64624177-64624178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536648041	chr13:64624185-64624186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs269655	chr13:64624213-64624214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540003418	chr13:64624247-64624248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368608430	chr13:64624268-64624269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76352091	chr13:64624285-64624286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143482451	chr13:64624297-64624298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71442618	chr13:64624335-64624336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142505590	chr13:64624339-64624340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146364008	chr13:64624396-64624397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551021282	chr13:64626670-64626671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569155784	chr13:64626733-64626734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs80220560	chr13:64626758-64626759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554705660	chr13:64626762-64626763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566560207	chr13:64626764-64626765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533851294	chr13:64626789-64626790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558391611	chr13:64626794-64626795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576559175	chr13:64626816-64626817	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543791765	chr13:64626845-64626846	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189058488	chr13:64626912-64626913	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575529334	chr13:64626928-64626929	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542955154	chr13:64626930-64626931	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561492730	chr13:64626945-64626946	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377530506	chr13:64627025-64627026	Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64623400-64624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:64624000-64624400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:64626600-64628800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:64626800-64627000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:64627000-64627200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr13:64627200-64627400	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr13:64627400-64627600	Enhancers	K562	blood
8	chr13:64627400-64627800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr13:64627600-64631400	Weak transcription	K562	blood
10	chr13:64627800-64629800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:64627800-64630200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:64629800-64630000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr13:64630000-64630200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr13:64630200-64630400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr13:64630400-64630600	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr13:64630600-64631400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:64631400-64631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr13:64631400-64632000	Enhancers	HepG2	liver
19	chr13:64631400-64632800	Enhancers	K562	blood
20	chr13:64632000-64646200	Weak transcription	HepG2	liver
21	chr13:64634600-64635200	Enhancers	Brain Germinal Matrix	brain
22	chr13:64635800-64636200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr13:64636200-64640600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:64640600-64641000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:64640600-64642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:64640800-64642000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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