Variant report

Variant	nsv878778
Chromosome Location	chr4:28237783-28343903
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
2	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
3	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
4	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
5	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
6	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
7	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
8	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
9	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
10	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
11	chr12:54610784..54611389-chr4:28303417..28303937,3	K562	blood:
12	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
13	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
14	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
15	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
16	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
17	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
18	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
19	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
20	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
21	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
22	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
23	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:

No data

Extended variants
information (count: 3224 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3224 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2173279	chr4:28237783-28237784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145449448	chr4:28237791-28237792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115011484	chr4:28237814-28237815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539084343	chr4:28237832-28237833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371145633	chr4:28237845-28237846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556015780	chr4:28237873-28237874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575975472	chr4:28237945-28237946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191519628	chr4:28237991-28237992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9291514	chr4:28237998-28237999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574791703	chr4:28238006-28238007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369934738	chr4:28238022-28238023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147013989	chr4:28238069-28238070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9291515	chr4:28238070-28238071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147630571	chr4:28238086-28238087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376817287	chr4:28238092-28238093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370452433	chr4:28238112-28238113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183669330	chr4:28238126-28238127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35469256	chr4:28238130-28238131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9291517	chr4:28238131-28238132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533619443	chr4:28238158-28238159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547456567	chr4:28238189-28238190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570484075	chr4:28238204-28238205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539040210	chr4:28238232-28238233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142170013	chr4:28238241-28238242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145943542	chr4:28238281-28238282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575889388	chr4:28238301-28238302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573493878	chr4:28238323-28238324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535362560	chr4:28238337-28238338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148334984	chr4:28238346-28238347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572219525	chr4:28238352-28238353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563806023	chr4:28238382-28238383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189058831	chr4:28238508-28238509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554217232	chr4:28238539-28238540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368066092	chr4:28238540-28238541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1497703	chr4:28238584-28238585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562874292	chr4:28238620-28238621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73221830	chr4:28238638-28238639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1497704	chr4:28238651-28238652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562282233	chr4:28238661-28238662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527866697	chr4:28238673-28238674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1497705	chr4:28238681-28238682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570200399	chr4:28238683-28238684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532871139	chr4:28238688-28238689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549318157	chr4:28238784-28238785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192642576	chr4:28238785-28238786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535330492	chr4:28238975-28238976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116278926	chr4:28238976-28238977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185686609	chr4:28239023-28239024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565862174	chr4:28239056-28239057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75939133	chr4:28239059-28239060	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:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28231200-28240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:28232000-28239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:28235000-28240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:28235000-28279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:28237600-28238000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:28239800-28241200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:28240000-28241600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:28240200-28240600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:28240400-28240800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:28240400-28241200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:28240600-28241000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:28240600-28241200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:28241200-28242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:28241200-28248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:28241600-28242000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:28242000-28242400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:28242200-28242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:28248600-28248800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:28249600-28250200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:28249800-28250000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:28249800-28250200	Enhancers	Brain Substantia Nigra	brain
22	chr4:28250000-28255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:28250200-28250600	Weak transcription	Brain Substantia Nigra	brain
24	chr4:28250600-28251200	Enhancers	Brain Substantia Nigra	brain
25	chr4:28250800-28251200	Enhancers	Brain Angular Gyrus	brain
26	chr4:28250800-28251600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:28251000-28252600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:28251200-28251600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:28251400-28252000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:28252200-28252800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:28253400-28253600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:28253400-28253600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:28253400-28253800	Enhancers	NHEK	skin
34	chr4:28254600-28255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:28255400-28255800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:28255400-28255800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:28255400-28255800	Enhancers	Fetal Muscle Trunk	muscle
38	chr4:28255400-28256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:28256000-28259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:28267200-28268200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:28268200-28270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:28270400-28272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:28271000-28272600	Enhancers	A549	lung
44	chr4:28271600-28272000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:28272000-28272200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr4:28272600-28279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:28278400-28278600	Enhancers	Brain Angular Gyrus	brain
48	chr4:28278400-28278600	Enhancers	Brain Anterior Caudate	brain
49	chr4:28278400-28278600	Enhancers	Brain Substantia Nigra	brain
50	chr4:28278600-28280000	Weak transcription	Brain Anterior Caudate	brain

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