Variant report

Variant	nsv878777
Chromosome Location	chr4:28208093-28343903
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
2	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
3	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
4	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
5	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
6	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
7	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
8	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
9	chr4:28226335..28227253-chr4:29080709..29081499,3	MCF-7	breast:
10	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
11	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
12	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
13	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
14	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
15	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
16	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
17	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
18	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
19	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
20	chr4:28227050..28227613-chr4:29133017..29133631,2	MCF-7	breast:
21	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
22	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
23	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
24	chr12:54610784..54611389-chr4:28303417..28303937,3	K562	blood:
25	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
26	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
27	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:

No data

Extended variants
information (count: 4213 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4213 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9998286	chr4:28211010-28211011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181769028	chr4:28211035-28211036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570737669	chr4:28211041-28211042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186477710	chr4:28211095-28211096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547466461	chr4:28211109-28211110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138761389	chr4:28211152-28211153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569547271	chr4:28211202-28211203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537913608	chr4:28211214-28211215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554664382	chr4:28211234-28211235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568315789	chr4:28211271-28211272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534207187	chr4:28211308-28211309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142741826	chr4:28211309-28211310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61794090	chr4:28211326-28211327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546548273	chr4:28211370-28211371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560007326	chr4:28213200-28213201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183587467	chr4:28213214-28213215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562990737	chr4:28213216-28213217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73219802	chr4:28213286-28213287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73806714	chr4:28213321-28213322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140939679	chr4:28213332-28213333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528297492	chr4:28213348-28213349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150180327	chr4:28213357-28213358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547823884	chr4:28213363-28213364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564582500	chr4:28213398-28213399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533508068	chr4:28213463-28213464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550199558	chr4:28213502-28213503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570096126	chr4:28213532-28213533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570276118	chr4:28213551-28213552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376723646	chr4:28213555-28213556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188174759	chr4:28213634-28213635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60495233	chr4:28213664-28213665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7688905	chr4:28213665-28213666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371646074	chr4:28213682-28213683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530235944	chr4:28213695-28213696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192827628	chr4:28213720-28213721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550396711	chr4:28213738-28213739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558370475	chr4:28213872-28213873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145888935	chr4:28213877-28213878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35879655	chr4:28213888-28213889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371069290	chr4:28213901-28213902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532867722	chr4:28213908-28213909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536778278	chr4:28213912-28213913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556523889	chr4:28213922-28213923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573317562	chr4:28213973-28213974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1497718	chr4:28213994-28213995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540266913	chr4:28214012-28214013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182576560	chr4:28214031-28214032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140031804	chr4:28214070-28214071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1353655	chr4:28214075-28214076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544859129	chr4:28214085-28214086	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:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28211000-28211400	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:28213200-28213400	Enhancers	Rectal Smooth Muscle	rectum
3	chr4:28213200-28213600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:28213200-28214000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:28213400-28213600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:28213800-28215000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:28215000-28215400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:28215400-28223600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:28216400-28217400	Enhancers	Fetal Heart	heart
10	chr4:28216600-28217400	Enhancers	HSMMtube	muscle
11	chr4:28219000-28219400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:28223200-28223400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:28223200-28224200	Enhancers	Fetal Heart	heart
14	chr4:28223400-28224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:28223600-28224200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:28224000-28224600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:28224200-28226600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:28224200-28228800	Weak transcription	Fetal Heart	heart
19	chr4:28224600-28227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:28225600-28229600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:28226000-28226200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:28226200-28227600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:28226400-28227400	Enhancers	Brain Hippocampus Middle	brain
24	chr4:28226400-28227800	Enhancers	Brain Anterior Caudate	brain
25	chr4:28226600-28226800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:28226600-28226800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:28226600-28227400	Enhancers	Brain Substantia Nigra	brain
28	chr4:28226600-28228400	Enhancers	Brain Angular Gyrus	brain
29	chr4:28226800-28227200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:28226800-28227400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:28226800-28227600	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:28226800-28228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:28226800-28230600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:28227000-28227200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:28227000-28227400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:28227000-28227400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:28227000-28227800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:28227000-28227800	Enhancers	Liver	Liver
39	chr4:28227000-28228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:28227000-28228400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:28227000-28228600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:28227200-28227600	Enhancers	Colon Smooth Muscle	Colon
43	chr4:28227200-28227600	Enhancers	A549	lung
44	chr4:28227200-28229000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:28227200-28229400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:28227200-28230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:28227400-28227600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:28227400-28227600	Enhancers	Fetal Lung	lung
49	chr4:28227400-28227800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr4:28227400-28227800	Enhancers	Fetal Brain Male	brain

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