Variant report

Variant	nsv878747
Chromosome Location	chr4:21057794-21169062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
2	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
3	chr4:21099804..21101899-chr4:21102257..21105155,2	K562	blood:
4	chr4:20774749..20775678-chr4:21136384..21137379,5	MCF-7	breast:
5	chr4:20774939..20775520-chr4:21136553..21137202,2	MCF-7	breast:
6	chr4:21099804..21101899-chr4:21102257..21105155,2	K562	blood:
7	chr1:217085881..217086616-chr4:21121511..21122023,2	MCF-7	breast:

Extended variants
information (count: 1673 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1673 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150999052	chr4:21062227-21062228	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112145647	chr4:21062251-21062252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149770530	chr4:21062280-21062281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540294108	chr4:21062312-21062313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs28735441	chr4:21062325-21062326	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146794750	chr4:21062350-21062351	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554844901	chr4:21062358-21062359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564895976	chr4:21062363-21062364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568841421	chr4:21062370-21062371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535872442	chr4:21062444-21062445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386672377	chr4:21062463-21062464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113277470	chr4:21062464-21062465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540350918	chr4:21062500-21062501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558315813	chr4:21062516-21062517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576644515	chr4:21062561-21062562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372758622	chr4:21062608-21062609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544075829	chr4:21062612-21062613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562448037	chr4:21062624-21062625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74699764	chr4:21062630-21062631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115233645	chr4:21062673-21062674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561774974	chr4:21062709-21062710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112594290	chr4:21062754-21062755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547103316	chr4:21062779-21062780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7688242	chr4:21062866-21062867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145674908	chr4:21062916-21062917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146584581	chr4:21062949-21062950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149179687	chr4:21062950-21062951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530833582	chr4:21063005-21063006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536993101	chr4:21063097-21063098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547855319	chr4:21063105-21063106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566497271	chr4:21063130-21063131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199497552	chr4:21063164-21063165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542517173	chr4:21063200-21063201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558254493	chr4:21063206-21063207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111618317	chr4:21063226-21063227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148374709	chr4:21063231-21063232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200838625	chr4:21063317-21063318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141601505	chr4:21063336-21063337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574643690	chr4:21063377-21063378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199789781	chr4:21063380-21063381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542131830	chr4:21063421-21063422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184586070	chr4:21063422-21063423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573203455	chr4:21063433-21063434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540700527	chr4:21063445-21063446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9997060	chr4:21063474-21063475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562088385	chr4:21063578-21063579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532710980	chr4:21063588-21063589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73802443	chr4:21063590-21063591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563122117	chr4:21063609-21063610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78567813	chr4:21063693-21063694	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	22183965	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21062200-21062600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:21062600-21063400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:21063400-21065800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:21068200-21068600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:21071200-21072000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:21083800-21085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:21084600-21085800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:21085000-21085600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:21085000-21085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:21085000-21086000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:21085200-21085600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:21085200-21085800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:21085200-21085800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:21085200-21086000	Enhancers	HUVEC	blood vessel
15	chr4:21085400-21085800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:21085800-21089800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:21086000-21089600	Weak transcription	HUVEC	blood vessel
18	chr4:21089600-21090600	Enhancers	HUVEC	blood vessel
19	chr4:21090800-21091800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:21090800-21092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:21091200-21092800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:21098600-21099200	Enhancers	HUVEC	blood vessel
23	chr4:21099200-21104400	Weak transcription	HUVEC	blood vessel
24	chr4:21104200-21104600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:21104400-21104600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:21104400-21104800	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:21104400-21104800	Enhancers	HUVEC	blood vessel
28	chr4:21112000-21112200	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:21112200-21114600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:21113200-21113400	Enhancers	Colon Smooth Muscle	Colon
31	chr4:21113400-21114800	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:21114000-21115000	Enhancers	Ovary	ovary
33	chr4:21114600-21116000	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:21114600-21117000	Enhancers	HUVEC	blood vessel
35	chr4:21114800-21115400	Enhancers	Colon Smooth Muscle	Colon
36	chr4:21114800-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:21114800-21115800	Enhancers	Fetal Lung	lung
38	chr4:21115000-21115600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:21115000-21119800	Weak transcription	Ovary	ovary
40	chr4:21115200-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:21115400-21115800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:21115600-21116000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:21116000-21116600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:21116600-21116800	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:21116800-21120000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:21118800-21119000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr4:21118800-21119200	Active TSS	HSMM	muscle
50	chr4:21119000-21120200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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