Variant report

Variant	nsv437360
Chromosome Location	chr3:191371101-191392897
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	chr3:191371142..191373244-chr3:191374844..191377761,2	K562	blood:
2	chr3:191371142..191373244-chr3:191374844..191377761,2	K562	blood:

Extended variants
information (count: 1112 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6768840	chr3:191371101-191371102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375666332	chr3:191371132-191371133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375682670	chr3:191371141-191371142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565229712	chr3:191371150-191371151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs60708992	chr3:191371161-191371162	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13091896	chr3:191371174-191371175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545838375	chr3:191371223-191371224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567115857	chr3:191371224-191371225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539550029	chr3:191371285-191371286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143166754	chr3:191371320-191371321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556126009	chr3:191371333-191371334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183935102	chr3:191371343-191371344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569867444	chr3:191371349-191371350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575963776	chr3:191371427-191371428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187825813	chr3:191371469-191371470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs13092013	chr3:191371490-191371491	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10084751	chr3:191371513-191371514	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190741118	chr3:191371531-191371532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183027121	chr3:191371570-191371571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543136607	chr3:191371594-191371595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs60694545	chr3:191371636-191371637	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576620891	chr3:191371641-191371642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75424885	chr3:191371716-191371717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13092899	chr3:191371722-191371723	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527990028	chr3:191371773-191371774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76901740	chr3:191371775-191371776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560965376	chr3:191371798-191371799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148252395	chr3:191371805-191371806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549887820	chr3:191371811-191371812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569647103	chr3:191371827-191371828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79116499	chr3:191371870-191371871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs187318601	chr3:191371905-191371906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552409228	chr3:191371926-191371927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565846160	chr3:191371951-191371952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534940139	chr3:191371960-191371961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192728976	chr3:191371983-191371984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373417812	chr3:191372000-191372001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35689458	chr3:191372027-191372028	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141236003	chr3:191372028-191372029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556668329	chr3:191372075-191372076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35322276	chr3:191372101-191372102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545061201	chr3:191372122-191372123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558746328	chr3:191372149-191372150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs184781156	chr3:191372174-191372175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112679917	chr3:191372227-191372228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112729783	chr3:191372247-191372248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529740551	chr3:191372248-191372249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs545530174	chr3:191372265-191372266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543053399	chr3:191372274-191372275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563254293	chr3:191372309-191372310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191362200-191374800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr3:191374800-191380000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:191376400-191378000	Active TSS	K562	blood
4	chr3:191380000-191380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:191380400-191383600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:191383600-191383800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:191383800-191384200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr3:191384200-191384800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:191384800-191389800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:191387800-191388200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:191389600-191390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:191389800-191390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:191390000-191391000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:191390200-191390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:191390800-191406400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:191391000-191391800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:191391800-191392000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr3:191392000-191392200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr3:191392200-191404400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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