Variant report

Variant	nsv521220
Chromosome Location	chr4:3713599-3714185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16844797	chr4:3713599-3713600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77230496	chr4:3713630-3713631	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs575720121	chr4:3713656-3713657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs11936103	chr4:3713660-3713661	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs541480268	chr4:3713673-3713674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs561969603	chr4:3713704-3713705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs534713461	chr4:3713705-3713706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs28622356	chr4:3713710-3713711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541747086	chr4:3713725-3713726	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs1569901	chr4:3713726-3713727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533412478	chr4:3713750-3713751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs549899162	chr4:3713764-3713765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11945523	chr4:3713834-3713835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372235193	chr4:3713857-3713858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572225720	chr4:3713946-3713947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529410200	chr4:3713953-3713954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375433814	chr4:3713962-3713963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568276086	chr4:3713963-3713964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533958318	chr4:3713975-3713976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141228056	chr4:3714010-3714011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570650515	chr4:3714023-3714024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2180258	chr4:3714026-3714027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1569900	chr4:3714030-3714031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575607285	chr4:3714040-3714041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60420070	chr4:3714041-3714042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555031669	chr4:3714112-3714113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534229720	chr4:3714114-3714115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541264269	chr4:3714157-3714158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2748788	chr4:3714185-3714186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
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
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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3709800-3716000	Weak transcription	Fetal Kidney	kidney
2	chr4:3710600-3715600	Weak transcription	Esophagus	oesophagus
3	chr4:3711600-3714400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:3712200-3715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3712800-3714800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:3713000-3714200	Weak transcription	HSMMtube	muscle
7	chr4:3713000-3716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:3713200-3715800	Weak transcription	Spleen	Spleen
9	chr4:3713400-3713800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:3713400-3715800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:3713400-3715800	Weak transcription	Pancreas	Pancrea
12	chr4:3713800-3715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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