Variant report

Variant	nsv878741
Chromosome Location	chr4:20440476-20486230
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:20466540..20468628-chr4:20470568..20472172,2	K562	blood:
2	chr4:20483512..20485681-chr4:20488702..20490810,2	K562	blood:
3	chr4:20466540..20468628-chr4:20470568..20472172,2	K562	blood:
4	chr4:20483363..20485118-chr4:20485366..20487379,2	MCF-7	breast:
5	chr4:20484129..20486943-chr4:20489263..20491359,2	MCF-7	breast:
6	chr4:20478804..20484110-chr4:20484311..20489039,6	K562	blood:
7	chr4:20478804..20484110-chr4:20484311..20489039,6	K562	blood:
8	chr4:20483363..20485118-chr4:20485366..20487379,2	MCF-7	breast:

No data

Extended variants
information (count: 1843 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1843 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6849536	chr4:20440476-20440477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572292482	chr4:20440491-20440492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546018642	chr4:20440498-20440499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191769057	chr4:20440510-20440511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576096142	chr4:20440558-20440559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543904393	chr4:20440569-20440570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561884567	chr4:20440578-20440579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574023430	chr4:20440583-20440584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138582740	chr4:20440613-20440614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560473998	chr4:20440615-20440616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527460730	chr4:20440653-20440654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552370712	chr4:20440660-20440661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564288405	chr4:20440689-20440690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368816752	chr4:20440696-20440697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79156240	chr4:20440701-20440702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10021499	chr4:20440721-20440722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551587020	chr4:20440752-20440753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79075768	chr4:20440795-20440796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56008233	chr4:20440804-20440805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184001884	chr4:20440809-20440810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74367165	chr4:20440812-20440813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188892292	chr4:20440824-20440825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539761229	chr4:20440843-20440844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149283208	chr4:20440855-20440856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561986137	chr4:20440943-20440944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537143698	chr4:20440964-20440965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555868241	chr4:20440969-20440970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372940913	chr4:20441012-20441013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573936046	chr4:20441032-20441033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541443734	chr4:20441071-20441072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559805726	chr4:20441106-20441107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28398193	chr4:20441132-20441133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144521697	chr4:20441175-20441176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28544425	chr4:20441216-20441217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375298716	chr4:20441258-20441259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148035907	chr4:20441346-20441347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117181915	chr4:20441381-20441382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10516355	chr4:20441403-20441404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192621353	chr4:20441409-20441410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529404698	chr4:20441444-20441445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182255460	chr4:20441479-20441480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370779744	chr4:20441500-20441501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568360925	chr4:20441552-20441553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186870233	chr4:20441628-20441629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570137549	chr4:20441677-20441678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34589110	chr4:20441698-20441699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537683732	chr4:20441711-20441712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555556234	chr4:20441740-20441741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs33933434	chr4:20441802-20441803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71653884	chr4:20441830-20441831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20434800-20446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:20435000-20444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:20435400-20444200	Weak transcription	Fetal Lung	lung
4	chr4:20438200-20442000	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:20438200-20444400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:20440200-20440800	Enhancers	NHEK	skin
7	chr4:20441800-20442200	Enhancers	Fetal Brain Female	brain
8	chr4:20442000-20442200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:20442200-20442600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:20442600-20443600	Enhancers	Colon Smooth Muscle	Colon
11	chr4:20443600-20444000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:20444000-20449000	Enhancers	Colon Smooth Muscle	Colon
13	chr4:20444200-20444400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:20444200-20444400	Enhancers	Fetal Kidney	kidney
15	chr4:20444200-20445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:20444200-20446600	Enhancers	Fetal Stomach	stomach
17	chr4:20444200-20449600	Enhancers	Fetal Lung	lung
18	chr4:20444400-20445200	Weak transcription	Fetal Kidney	kidney
19	chr4:20444400-20446800	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:20444800-20445000	Enhancers	NHDF-Ad	bronchial
21	chr4:20444800-20445400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:20444800-20447600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:20445200-20445600	Enhancers	Fetal Kidney	kidney
24	chr4:20445200-20447000	Weak transcription	NHDF-Ad	bronchial
25	chr4:20445400-20446000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:20445600-20447400	Weak transcription	Fetal Kidney	kidney
27	chr4:20445800-20446200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:20446000-20446200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:20446000-20446600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:20446000-20446600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:20446000-20446800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:20446200-20447400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:20446200-20449200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:20446600-20447400	Weak transcription	Fetal Stomach	stomach
35	chr4:20446600-20447800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:20446600-20447800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:20446600-20448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:20446800-20447200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:20446800-20447800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:20447000-20448800	Enhancers	NHDF-Ad	bronchial
41	chr4:20447200-20448600	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:20447400-20447800	Enhancers	Fetal Muscle Leg	muscle
43	chr4:20447400-20447800	Enhancers	Ovary	ovary
44	chr4:20447400-20448000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:20447400-20448000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:20447400-20448000	Enhancers	HSMMtube	muscle
47	chr4:20447400-20448200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr4:20447400-20448200	Enhancers	Fetal Kidney	kidney
49	chr4:20447400-20449400	Enhancers	Fetal Stomach	stomach
50	chr4:20447600-20447800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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