Variant report

Variant	nsv820003
Chromosome Location	chr4:10491195-10492003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10483820..10485837-chr4:10490038..10492249,2	K562	blood:
2	chr4:10489847..10492535-chr4:10493316..10495674,3	K562	blood:
3	chr4:10483661..10485837-chr4:10489240..10491538,2	K562	blood:
4	chr4:10489847..10492535-chr4:10493316..10497082,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10938822	chr4:10491240-10491241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72173722	chr4:10491294-10491295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58368200	chr4:10491306-10491307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542114090	chr4:10491311-10491312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58566214	chr4:10491312-10491313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60420191	chr4:10491318-10491319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61604094	chr4:10491325-10491326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553735996	chr4:10491335-10491336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59098381	chr4:10491336-10491337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57114119	chr4:10491341-10491342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11736754	chr4:10491351-10491352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192475336	chr4:10491354-10491355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11725411	chr4:10491357-10491358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11728226	chr4:10491384-10491385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376661386	chr4:10491415-10491416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572330675	chr4:10491428-10491429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36170799	chr4:10491452-10491453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138844267	chr4:10491477-10491478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187312027	chr4:10491511-10491512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556186869	chr4:10491541-10491542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13121626	chr4:10491551-10491552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533356126	chr4:10491580-10491581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539895984	chr4:10491618-10491619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13127304	chr4:10491627-10491628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13127306	chr4:10491631-10491632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192834525	chr4:10491662-10491663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184965993	chr4:10491672-10491673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528011815	chr4:10491684-10491685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115018842	chr4:10491691-10491692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13127079	chr4:10491719-10491720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs531605853	chr4:10491763-10491764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549997209	chr4:10491797-10491798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571760202	chr4:10491836-10491837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11725527	chr4:10491852-10491853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553965231	chr4:10491908-10491909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61223248	chr4:10491918-10491919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536521323	chr4:10491924-10491925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554904046	chr4:10491938-10491939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576068761	chr4:10491972-10491973	Weak transcription	n/a	n/a	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10489600-10492800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:10490400-10497800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:10490800-10491200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:10491200-10491600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:10491600-10491800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:10491800-10493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:10492000-10492200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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