Variant report

Variant	nsv818220
Chromosome Location	chr4:19092157-19122442
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	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
2	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115036344	chr4:19097001-19097002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564628112	chr4:19097009-19097010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539715718	chr4:19097019-19097020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568613161	chr4:19097063-19097064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113598996	chr4:19097083-19097084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192887618	chr4:19097118-19097119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375253786	chr4:19097119-19097120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141520954	chr4:19097149-19097150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369406744	chr4:19097159-19097160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562105761	chr4:19097178-19097179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146348752	chr4:19097261-19097262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73803341	chr4:19097268-19097269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560074126	chr4:19097276-19097277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533595317	chr4:19097389-19097390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551635772	chr4:19097451-19097452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77088189	chr4:19097458-19097459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556136690	chr4:19097467-19097468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569832038	chr4:19097480-19097481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537583212	chr4:19097516-19097517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569470070	chr4:19097533-19097534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62297895	chr4:19097568-19097569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16898069	chr4:19097601-19097602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535065263	chr4:19097603-19097604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553663380	chr4:19097609-19097610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572221689	chr4:19097620-19097621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539626984	chr4:19097627-19097628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184523587	chr4:19097632-19097633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576178132	chr4:19097634-19097635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543981464	chr4:19097654-19097655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113052184	chr4:19097737-19097738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572244639	chr4:19097744-19097745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187857318	chr4:19097748-19097749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574117524	chr4:19097760-19097761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554598770	chr4:19097773-19097774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142828870	chr4:19097775-19097776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs176276	chr4:19097833-19097834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367793641	chr4:19097834-19097835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192508506	chr4:19097845-19097846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573299571	chr4:19097908-19097909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114931431	chr4:19097923-19097924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184557111	chr4:19097962-19097963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567778858	chr4:19098019-19098020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189002260	chr4:19098038-19098039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181628403	chr4:19098039-19098040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112624035	chr4:19098067-19098068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139683748	chr4:19098087-19098088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375541736	chr4:19098159-19098160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558030829	chr4:19098185-19098186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576187597	chr4:19098204-19098205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537227979	chr4:19098209-19098210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19097000-19097600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr4:19097000-19097800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:19097000-19098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:19097000-19098000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:19097200-19097600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:19097200-19097800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:19097200-19097800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:19097200-19097800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:19097200-19098000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:19097200-19098400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:19097600-19098000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:19097800-19099400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:19098000-19099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:19099400-19099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:19099400-19100200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:19111800-19112000	Enhancers	Fetal Kidney	kidney
17	chr4:19112000-19113600	Weak transcription	Fetal Kidney	kidney

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