Variant report

Variant	nsv878779
Chromosome Location	chr4:28264394-28343903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
2	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
3	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
4	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
5	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
6	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
7	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
8	chr12:54610784..54611389-chr4:28303417..28303937,3	K562	blood:
9	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
10	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
11	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
12	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
13	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
14	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:

No data

Extended variants
information (count: 1961 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1961 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1353654	chr4:28264394-28264395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548377729	chr4:28264407-28264408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112352788	chr4:28264412-28264413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568193506	chr4:28264415-28264416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112757345	chr4:28264428-28264429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73221868	chr4:28264445-28264446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547158655	chr4:28264500-28264501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566871125	chr4:28264546-28264547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188202112	chr4:28264549-28264550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59589574	chr4:28264558-28264559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73221869	chr4:28264559-28264560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538028104	chr4:28264580-28264581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377521047	chr4:28264605-28264606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559285167	chr4:28264628-28264629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2088452	chr4:28264657-28264658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78325432	chr4:28264687-28264688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146671945	chr4:28264702-28264703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190014939	chr4:28264711-28264712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67773111	chr4:28264798-28264799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545403379	chr4:28264844-28264845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562603816	chr4:28264878-28264879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73221870	chr4:28264889-28264890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6825319	chr4:28264894-28264895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140214646	chr4:28264930-28264931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73221871	chr4:28264931-28264932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34547926	chr4:28264975-28264976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397879716	chr4:28264976-28264977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397784534	chr4:28264984-28264985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397992738	chr4:28264985-28264986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547070729	chr4:28265008-28265009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182288288	chr4:28265022-28265023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539000675	chr4:28265065-28265066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150378067	chr4:28265080-28265081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187904566	chr4:28265081-28265082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138061206	chr4:28265154-28265155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75328106	chr4:28265184-28265185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574972628	chr4:28265248-28265249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs924240	chr4:28265276-28265277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538766248	chr4:28265281-28265282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575412340	chr4:28265290-28265291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367825086	chr4:28265296-28265297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111264935	chr4:28265327-28265328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576542853	chr4:28265350-28265351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545363609	chr4:28265363-28265364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370487760	chr4:28265365-28265366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569316266	chr4:28265376-28265377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575997351	chr4:28265385-28265386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542106834	chr4:28265408-28265409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561840403	chr4:28265428-28265429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143124346	chr4:28265461-28265462	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28235000-28279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28267200-28268200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:28268200-28270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:28270400-28272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:28271000-28272600	Enhancers	A549	lung
6	chr4:28271600-28272000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:28272000-28272200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:28272600-28279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:28278400-28278600	Enhancers	Brain Angular Gyrus	brain
10	chr4:28278400-28278600	Enhancers	Brain Anterior Caudate	brain
11	chr4:28278400-28278600	Enhancers	Brain Substantia Nigra	brain
12	chr4:28278600-28280000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:28278600-28280200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:28278800-28280000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:28279000-28280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:28279200-28282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:28279400-28280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:28279400-28282400	Enhancers	NHEK	skin
19	chr4:28279600-28280000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:28279600-28280400	Enhancers	Stomach Mucosa	stomach
21	chr4:28279600-28280400	Enhancers	HSMM	muscle
22	chr4:28279600-28281400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:28279600-28282000	Enhancers	Brain Hippocampus Middle	brain
24	chr4:28279600-28282000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:28279600-28282200	Enhancers	HMEC	breast
26	chr4:28279600-28282400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:28279600-28282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:28279800-28280800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:28279800-28281000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:28279800-28281800	Enhancers	Brain Cingulate Gyrus	brain
31	chr4:28280000-28280200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr4:28280000-28280600	Enhancers	Brain Angular Gyrus	brain
33	chr4:28280000-28282600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:28280000-28282600	Enhancers	Brain Anterior Caudate	brain
35	chr4:28280200-28280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:28280200-28281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:28280200-28281200	Enhancers	Brain Substantia Nigra	brain
38	chr4:28280200-28281400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:28280400-28280600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:28280400-28280800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:28280400-28280800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:28280400-28280800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:28280600-28280800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:28280600-28280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:28280600-28281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:28280600-28283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:28280800-28283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:28280800-28284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:28280800-28289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:28280800-28293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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