Variant report

Variant	nsv878771
Chromosome Location	chr4:27760141-27897437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:27848856..27851174-chr4:27851500..27853335,2	MCF-7	breast:
2	chr4:27807086..27808753-chr4:27809733..27812623,2	K562	blood:
3	chr4:27807086..27808753-chr4:27809733..27812623,2	K562	blood:
4	chr4:27818919..27821261-chr4:27825459..27827284,2	MCF-7	breast:
5	chr4:27818919..27821261-chr4:27825459..27827284,2	MCF-7	breast:
6	chr4:27848856..27851174-chr4:27851500..27853335,2	MCF-7	breast:

Extended variants
information (count: 1003 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563245566	chr4:27761261-27761262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529014076	chr4:27761295-27761296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542702651	chr4:27761308-27761309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373385783	chr4:27761310-27761311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528329137	chr4:27761387-27761388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148573942	chr4:27761413-27761414	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528918097	chr4:27761446-27761447	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571547690	chr4:27761457-27761458	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556558503	chr4:27761486-27761487	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76766305	chr4:27761511-27761512	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569677139	chr4:27761517-27761518	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377439695	chr4:27761529-27761530	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377328861	chr4:27761533-27761534	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568909362	chr4:27761539-27761540	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73805750	chr4:27761563-27761564	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368891662	chr4:27761597-27761598	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531311850	chr4:27761601-27761602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs578212133	chr4:27761635-27761636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543721460	chr4:27761636-27761637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557005664	chr4:27761682-27761683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181836608	chr4:27761702-27761703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542636789	chr4:27761710-27761711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186106561	chr4:27761734-27761735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528154546	chr4:27761753-27761754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531551057	chr4:27761766-27761767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551122983	chr4:27761773-27761774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545211388	chr4:27761864-27761865	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368556189	chr4:27761865-27761866	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533812805	chr4:27761870-27761871	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73805751	chr4:27761871-27761872	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76186085	chr4:27761876-27761877	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560843406	chr4:27761892-27761893	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529285279	chr4:27761929-27761930	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371117136	chr4:27762014-27762015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188913610	chr4:27762037-27762038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75938607	chr4:27762044-27762045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567238531	chr4:27762045-27762046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73805752	chr4:27762076-27762077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115433847	chr4:27762080-27762081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142935138	chr4:27762095-27762096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557728142	chr4:27762096-27762097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1503458	chr4:27762181-27762182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536282674	chr4:27762232-27762233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181579000	chr4:27762248-27762249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370432585	chr4:27762289-27762290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552977193	chr4:27762290-27762291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146597265	chr4:27762300-27762301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114689236	chr4:27762333-27762334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186535509	chr4:27762374-27762375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575399058	chr4:27762396-27762397	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27761200-27761400	Enhancers	Liver	Liver
2	chr4:27761400-27761600	Flanking Active TSS	Liver	Liver
3	chr4:27761600-27762000	Active TSS	Liver	Liver
4	chr4:27761800-27762600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:27762000-27763000	Enhancers	Liver	Liver
6	chr4:27763000-27764800	Weak transcription	Liver	Liver
7	chr4:27764800-27765600	Enhancers	Liver	Liver
8	chr4:27765600-27766000	Flanking Active TSS	Liver	Liver
9	chr4:27766000-27766400	Active TSS	Liver	Liver
10	chr4:27766000-27766400	Enhancers	Hela-S3	cervix
11	chr4:27766400-27766600	Flanking Active TSS	Liver	Liver
12	chr4:27766600-27766800	Enhancers	Liver	Liver
13	chr4:27769600-27769800	Enhancers	Pancreas	Pancrea
14	chr4:27776800-27777400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:27781000-27781600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:27781200-27781600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:27781200-27782000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:27781200-27782800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:27781400-27782000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:27781600-27782000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:27782000-27782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:27782000-27782400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:27782000-27782400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:27782400-27782800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:27782400-27782800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:27788400-27789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:27788400-27789600	Enhancers	NHEK	skin
28	chr4:27788400-27789800	Enhancers	HMEC	breast
29	chr4:27788600-27789800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:27789600-27791400	Weak transcription	NHEK	skin
31	chr4:27789600-27792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:27789800-27791200	Weak transcription	HMEC	breast
33	chr4:27789800-27791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:27791200-27791600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:27791200-27793000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:27791200-27793200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:27791200-27793600	Enhancers	HMEC	breast
38	chr4:27791400-27791600	Enhancers	NHEK	skin
39	chr4:27791400-27792400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:27791400-27792400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:27791400-27793000	Enhancers	NH-A	brain
42	chr4:27791400-27793600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:27791600-27792200	Weak transcription	NHEK	skin
44	chr4:27791600-27792600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:27792200-27793200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:27792200-27793200	Enhancers	NHEK	skin
47	chr4:27792400-27797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:27792600-27793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:27792800-27793000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:27815200-27815800	Enhancers	Ovary	ovary

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