Variant report

Variant	nsv878780
Chromosome Location	chr4:28273999-28341254
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

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

No data

Extended variants
information (count: 1517 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1517 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6448570	chr4:28273999-28274000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192092171	chr4:28274012-28274013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577808207	chr4:28274018-28274019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566860251	chr4:28274114-28274115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545978371	chr4:28274181-28274182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183516357	chr4:28274202-28274203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575986742	chr4:28274235-28274236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541836571	chr4:28274255-28274256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73113838	chr4:28274279-28274280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187282120	chr4:28274293-28274294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548109533	chr4:28274361-28274362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114031626	chr4:28274366-28274367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55982001	chr4:28274494-28274495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376571639	chr4:28274542-28274543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549573742	chr4:28274652-28274653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543840373	chr4:28274653-28274654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528868266	chr4:28274709-28274710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149886301	chr4:28274787-28274788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565712055	chr4:28274806-28274807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56755495	chr4:28274858-28274859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10000551	chr4:28274979-28274980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571308042	chr4:28275003-28275004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192013598	chr4:28275037-28275038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537259756	chr4:28275050-28275051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182661960	chr4:28275079-28275080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138426060	chr4:28275080-28275081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576149344	chr4:28275088-28275089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373269636	chr4:28275137-28275138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7675362	chr4:28275144-28275145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186975372	chr4:28275193-28275194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60551952	chr4:28275204-28275205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564814237	chr4:28275205-28275206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77556528	chr4:28275266-28275267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62320122	chr4:28275282-28275283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192510684	chr4:28275333-28275334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544019573	chr4:28275343-28275344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563902676	chr4:28275383-28275384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376472056	chr4:28275400-28275401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528980785	chr4:28275441-28275442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551677155	chr4:28275449-28275450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184267979	chr4:28275504-28275505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565673496	chr4:28275509-28275510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528090183	chr4:28275526-28275527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188817215	chr4:28275552-28275553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111600470	chr4:28275574-28275575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13126477	chr4:28275581-28275582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536816209	chr4:28275598-28275599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193218782	chr4:28275618-28275619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553985390	chr4:28275644-28275645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567165099	chr4:28275674-28275675	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:176 , 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	chr4:28272600-28279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:28278400-28278600	Enhancers	Brain Angular Gyrus	brain
4	chr4:28278400-28278600	Enhancers	Brain Anterior Caudate	brain
5	chr4:28278400-28278600	Enhancers	Brain Substantia Nigra	brain
6	chr4:28278600-28280000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:28278600-28280200	Weak transcription	Brain Substantia Nigra	brain
8	chr4:28278800-28280000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:28279000-28280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:28279200-28282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:28279400-28280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:28279400-28282400	Enhancers	NHEK	skin
13	chr4:28279600-28280000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr4:28279600-28280400	Enhancers	Stomach Mucosa	stomach
15	chr4:28279600-28280400	Enhancers	HSMM	muscle
16	chr4:28279600-28281400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:28279600-28282000	Enhancers	Brain Hippocampus Middle	brain
18	chr4:28279600-28282000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:28279600-28282200	Enhancers	HMEC	breast
20	chr4:28279600-28282400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:28279600-28282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:28279800-28280800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:28279800-28281000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:28279800-28281800	Enhancers	Brain Cingulate Gyrus	brain
25	chr4:28280000-28280200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr4:28280000-28280600	Enhancers	Brain Angular Gyrus	brain
27	chr4:28280000-28282600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:28280000-28282600	Enhancers	Brain Anterior Caudate	brain
29	chr4:28280200-28280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:28280200-28281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:28280200-28281200	Enhancers	Brain Substantia Nigra	brain
32	chr4:28280200-28281400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:28280400-28280600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:28280400-28280800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:28280400-28280800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:28280400-28280800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:28280600-28280800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:28280600-28280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:28280600-28281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:28280600-28283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:28280800-28283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:28280800-28284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:28280800-28289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:28280800-28293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:28281000-28282000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:28281200-28282200	Weak transcription	Brain Substantia Nigra	brain
47	chr4:28281600-28282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:28281600-28282000	Enhancers	HSMMtube	muscle
49	chr4:28281800-28282000	Enhancers	Pancreas	Pancrea
50	chr4:28282000-28282200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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