Variant report

Variant	nsv593721
Chromosome Location	chr4:10397327-10401190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
2	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
3	chr4:10184632..10187184-chr4:10400763..10402949,2	K562	blood:
4	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
5	chr4:10185450..10187184-chr4:10401056..10402949,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6835730	chr4:10397327-10397328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185129134	chr4:10397370-10397371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546736916	chr4:10397396-10397397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546864113	chr4:10397414-10397415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376027426	chr4:10397491-10397492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568181364	chr4:10397560-10397561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535293292	chr4:10397616-10397617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568432308	chr4:10397626-10397627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112805002	chr4:10397665-10397666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146836643	chr4:10397682-10397683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539046095	chr4:10397685-10397686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73809406	chr4:10397756-10397757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572857591	chr4:10397758-10397759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112262683	chr4:10397785-10397786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553504773	chr4:10397815-10397816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575064749	chr4:10397884-10397885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542477205	chr4:10397895-10397896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563966372	chr4:10397917-10397918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576010075	chr4:10397937-10397938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546178210	chr4:10397943-10397944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191219754	chr4:10397991-10397992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528555154	chr4:10397999-10398000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546753194	chr4:10398012-10398013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562242591	chr4:10398014-10398015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550956813	chr4:10398049-10398050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569240782	chr4:10398052-10398053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139370212	chr4:10398091-10398092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567113685	chr4:10398098-10398099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568767849	chr4:10398101-10398102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150043398	chr4:10398137-10398138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551323341	chr4:10398162-10398163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566368109	chr4:10398225-10398226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183341985	chr4:10398259-10398260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539954324	chr4:10398266-10398267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555155870	chr4:10398280-10398281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573826675	chr4:10398302-10398303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536009098	chr4:10398309-10398310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115374903	chr4:10398329-10398330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575975974	chr4:10398332-10398333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187638630	chr4:10398370-10398371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564826794	chr4:10398371-10398372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573137198	chr4:10398402-10398403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4389568	chr4:10398427-10398428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373123473	chr4:10398444-10398445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561845748	chr4:10398461-10398462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191502423	chr4:10398481-10398482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573043557	chr4:10398511-10398512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145399721	chr4:10398589-10398590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533666733	chr4:10398599-10398600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4698048	chr4:10398635-10398636	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10387000-10403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10396800-10399600	Enhancers	HMEC	breast
3	chr4:10397000-10399000	Enhancers	NHEK	skin
4	chr4:10397000-10400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:10397200-10399200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:10397400-10398400	Enhancers	K562	blood
7	chr4:10397600-10399000	Enhancers	Fetal Thymus	thymus
8	chr4:10397800-10398400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:10398400-10403400	Weak transcription	K562	blood
10	chr4:10398600-10398800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
11	chr4:10399000-10405600	Weak transcription	NHEK	skin
12	chr4:10399200-10402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:10399600-10400000	Weak transcription	HMEC	breast
14	chr4:10400000-10400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:10400000-10400600	Enhancers	HMEC	breast
16	chr4:10400400-10400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:10400600-10405200	Weak transcription	HMEC	breast
18	chr4:10400600-10405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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