Variant report

Variant	nsv593792
Chromosome Location	chr4:20275477-20362716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20274898..20276936-chr4:20279121..20281549,2	MCF-7	breast:
2	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:
3	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:
4	chr4:20301094..20301849-chr4:20546151..20546964,2	MCF-7	breast:
5	chr4:20274898..20276936-chr4:20279121..20281549,2	MCF-7	breast:
6	chr4:20271116..20273425-chr4:20275227..20278137,2	K562	blood:
7	chr4:20314844..20315471-chr4:20420114..20421061,2	MCF-7	breast:

Extended variants
information (count: 3282 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3282 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16869461	chr4:20275477-20275478	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540258660	chr4:20275492-20275493	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550379846	chr4:20275501-20275502	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547916143	chr4:20275544-20275545	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566098286	chr4:20275591-20275592	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187350768	chr4:20275606-20275607	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558778897	chr4:20275620-20275621	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571131556	chr4:20275629-20275630	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78545922	chr4:20275635-20275636	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556711617	chr4:20275659-20275660	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191805432	chr4:20275694-20275695	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184731523	chr4:20275699-20275700	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189259098	chr4:20275703-20275704	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115172672	chr4:20275706-20275707	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180807203	chr4:20275716-20275717	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370002140	chr4:20275722-20275723	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115408775	chr4:20275733-20275734	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145209616	chr4:20275735-20275736	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544209314	chr4:20275747-20275748	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562688520	chr4:20275758-20275759	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529864103	chr4:20275800-20275801	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547852704	chr4:20275889-20275890	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566232822	chr4:20275895-20275896	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527250993	chr4:20275897-20275898	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185686738	chr4:20275922-20275923	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570397145	chr4:20275946-20275947	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538506779	chr4:20276030-20276031	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199517897	chr4:20276031-20276032	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17535351	chr4:20276036-20276037	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149160730	chr4:20276081-20276082	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540802184	chr4:20276119-20276120	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190592541	chr4:20276140-20276141	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76214875	chr4:20276185-20276186	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16869465	chr4:20276193-20276194	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115886688	chr4:20276222-20276223	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77680800	chr4:20276236-20276237	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6447952	chr4:20276252-20276253	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562662687	chr4:20276264-20276265	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16869472	chr4:20276298-20276299	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376563816	chr4:20276320-20276321	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559298088	chr4:20276321-20276322	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375989020	chr4:20276354-20276355	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181714071	chr4:20276357-20276358	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559955589	chr4:20276364-20276365	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35101905	chr4:20276365-20276366	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200963745	chr4:20276366-20276367	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71181555	chr4:20276372-20276373	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78243572	chr4:20276378-20276379	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527381568	chr4:20276384-20276385	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531446332	chr4:20276401-20276402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD

Chromatin state (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:20268600-20280000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:20271000-20275600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:20272800-20276000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:20273800-20275600	Weak transcription	NHDF-Ad	bronchial
9	chr4:20273800-20278000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:20273800-20286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:20274200-20278200	Weak transcription	NHLF	lung
12	chr4:20274400-20275600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:20274400-20282200	Weak transcription	Fetal Kidney	kidney
14	chr4:20274600-20277000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:20274600-20277000	Weak transcription	Osteobl	bone
16	chr4:20274600-20278200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:20274600-20278200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:20274600-20280800	Weak transcription	NHEK	skin
19	chr4:20274600-20285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:20274600-20286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:20274600-20288600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:20274800-20279200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:20275000-20276600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:20275200-20275600	Enhancers	NH-A	brain
25	chr4:20275400-20275800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:20275400-20275800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20275400-20275800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:20275400-20275800	Strong transcription	Fetal Lung	lung
29	chr4:20275400-20276400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:20275600-20275800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:20275600-20276000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:20275600-20276400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:20275600-20276400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:20275600-20278200	Genic enhancers	NHDF-Ad	bronchial
35	chr4:20275800-20276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:20275800-20276600	Genic enhancers	Fetal Lung	lung
37	chr4:20275800-20277200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:20275800-20278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:20276000-20276600	Enhancers	Colon Smooth Muscle	Colon
40	chr4:20276000-20281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:20276200-20276400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:20276200-20276400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:20276200-20276600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:20276400-20277400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:20276400-20279600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:20276400-20283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:20276400-20286000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:20276600-20278000	Weak transcription	Fetal Lung	lung
49	chr4:20276600-20278400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:20276600-20278400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links