Variant report

Variant	nsv965439
Chromosome Location	chr4:10515362-10519600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:10519484-10519662	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10118463..10120223-chr4:10516574..10518474,2	K562	blood:
2	chr4:10509410..10511877-chr4:10515360..10517382,2	K562	blood:

Variant related genes	Relation type
CLNK	TF binding region
ENSG00000071127	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560050621	chr4:10516590-10516591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533637908	chr4:10516597-10516598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139782415	chr4:10516618-10516619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548574821	chr4:10516637-10516638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553499732	chr4:10516646-10516647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569967577	chr4:10516648-10516649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537539014	chr4:10516678-10516679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552420484	chr4:10516697-10516698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149709236	chr4:10516760-10516761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534546733	chr4:10516776-10516777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145574240	chr4:10516782-10516783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140380658	chr4:10516794-10516795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535379806	chr4:10516811-10516812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556879194	chr4:10516820-10516821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7665281	chr4:10516833-10516834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575002968	chr4:10516861-10516862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575164525	chr4:10516894-10516895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181151722	chr4:10516925-10516926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144138783	chr4:10516957-10516958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186224622	chr4:10516986-10516987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75490166	chr4:10517003-10517004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560010074	chr4:10517041-10517042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530382847	chr4:10517055-10517056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35323799	chr4:10517073-10517074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542194357	chr4:10517085-10517086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567689281	chr4:10517130-10517131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189534480	chr4:10517138-10517139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538354077	chr4:10517163-10517164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376992733	chr4:10517164-10517165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535826081	chr4:10517185-10517186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34006708	chr4:10517268-10517269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555913720	chr4:10517276-10517277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570815316	chr4:10517299-10517300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528566775	chr4:10517302-10517303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546357827	chr4:10517330-10517331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567927352	chr4:10517339-10517340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535345610	chr4:10517384-10517385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377693994	chr4:10517388-10517389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557000786	chr4:10517528-10517529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs180674201	chr4:10517612-10517613	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187420616	chr4:10517632-10517633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557741411	chr4:10517650-10517651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75631514	chr4:10517684-10517685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572950036	chr4:10517686-10517687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536039528	chr4:10517689-10517690	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540345765	chr4:10517701-10517702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553589687	chr4:10517724-10517725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113738542	chr4:10517765-10517766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113063278	chr4:10517785-10517786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542508530	chr4:10517814-10517815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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