Variant report

Variant	nsv1012692
Chromosome Location	chr4:28122071-28165368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:28142885..28145704-chr4:28154407..28156731,2	K562	blood:
2	chr4:28150102..28150780-chr6:144163979..144164654,2	MCF-7	breast:
3	chr4:28145656..28148352-chr4:28155077..28157282,2	MCF-7	breast:
4	chr4:28142885..28145704-chr4:28154407..28156731,2	K562	blood:
5	chr3:37302178..37303068-chr4:28151485..28152160,2	MCF-7	breast:
6	chr4:28145656..28148352-chr4:28155077..28157282,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135521	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528223523	chr4:28141220-28141221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551065521	chr4:28141270-28141271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77373149	chr4:28141273-28141274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191104038	chr4:28141276-28141277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183035757	chr4:28141277-28141278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114659425	chr4:28141323-28141324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536057471	chr4:28141326-28141327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371514241	chr4:28141364-28141365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145281711	chr4:28141393-28141394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552522870	chr4:28141445-28141446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149164415	chr4:28141465-28141466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79932838	chr4:28141470-28141471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114248629	chr4:28141495-28141496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1358309	chr4:28141525-28141526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543660706	chr4:28141535-28141536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563636460	chr4:28141542-28141543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554517650	chr4:28150105-28150106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574361157	chr4:28150110-28150111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539886801	chr4:28150134-28150135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560647764	chr4:28150217-28150218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142030213	chr4:28150221-28150222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191780295	chr4:28150248-28150249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76661481	chr4:28150259-28150260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561776966	chr4:28150287-28150288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370469717	chr4:28150293-28150294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562563398	chr4:28150332-28150333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530999192	chr4:28150351-28150352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146708812	chr4:28150371-28150372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111452584	chr4:28150387-28150388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386672841	chr4:28150388-28150389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530114627	chr4:28150389-28150390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547057317	chr4:28150463-28150464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567155460	chr4:28150494-28150495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182466355	chr4:28150497-28150498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11931765	chr4:28150504-28150505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532386881	chr4:28150544-28150545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537907341	chr4:28150545-28150546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576214605	chr4:28150565-28150566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78465154	chr4:28150579-28150580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140262574	chr4:28150598-28150599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13118791	chr4:28150671-28150672	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553376780	chr4:28150678-28150679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578014043	chr4:28150710-28150711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376548715	chr4:28150711-28150712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576697890	chr4:28150718-28150719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545707203	chr4:28150731-28150732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530610896	chr4:28161049-28161050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184386812	chr4:28161097-28161098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28698302	chr4:28161108-28161109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189283498	chr4:28161122-28161123	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28141200-28141600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:28161000-28161200	Enhancers	A549	lung

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