Variant report

Variant	nsv878748
Chromosome Location	chr4:21113871-21169062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:217085881..217086616-chr4:21121511..21122023,2	MCF-7	breast:
2	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
3	chr4:20774939..20775520-chr4:21136553..21137202,2	MCF-7	breast:
4	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
5	chr4:20774749..20775678-chr4:21136384..21137379,5	MCF-7	breast:

Extended variants
information (count: 675 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6846038	chr4:21113871-21113872	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs541976692	chr4:21113883-21113884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560294161	chr4:21113889-21113890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139457177	chr4:21113892-21113893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59223154	chr4:21113901-21113902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537924073	chr4:21113921-21113922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532510412	chr4:21113928-21113929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59416831	chr4:21113932-21113933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568937277	chr4:21114026-21114027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75334472	chr4:21114027-21114028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142738854	chr4:21114029-21114030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146070487	chr4:21114030-21114031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13112523	chr4:21114044-21114045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13112305	chr4:21114046-21114047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140032460	chr4:21114053-21114054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534132906	chr4:21114071-21114072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546678456	chr4:21114072-21114073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189198297	chr4:21114078-21114079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577481780	chr4:21114097-21114098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181188066	chr4:21114137-21114138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13112380	chr4:21114141-21114142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556175693	chr4:21114166-21114167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574532273	chr4:21114175-21114176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11931641	chr4:21114208-21114209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538569916	chr4:21114209-21114210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553247245	chr4:21114241-21114242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11735843	chr4:21114297-21114298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11735844	chr4:21114304-21114305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545704361	chr4:21114343-21114344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564373404	chr4:21114371-21114372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185542637	chr4:21114431-21114432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371353251	chr4:21114432-21114433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112774341	chr4:21114444-21114445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143665297	chr4:21114447-21114448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74526194	chr4:21114481-21114482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1368640	chr4:21114482-21114483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181543642	chr4:21114483-21114484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376830364	chr4:21114514-21114515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560923477	chr4:21114585-21114586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151274855	chr4:21114592-21114593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186015814	chr4:21114601-21114602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199938834	chr4:21114615-21114616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538537165	chr4:21114623-21114624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192113115	chr4:21114631-21114632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7356370	chr4:21114652-21114653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535450068	chr4:21114676-21114677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553805006	chr4:21114678-21114679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572064850	chr4:21114684-21114685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115173690	chr4:21114693-21114694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564474133	chr4:21114756-21114757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	22183965	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21112200-21114600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:21113400-21114800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:21114000-21115000	Enhancers	Ovary	ovary
4	chr4:21114600-21116000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:21114600-21117000	Enhancers	HUVEC	blood vessel
6	chr4:21114800-21115400	Enhancers	Colon Smooth Muscle	Colon
7	chr4:21114800-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:21114800-21115800	Enhancers	Fetal Lung	lung
9	chr4:21115000-21115600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:21115000-21119800	Weak transcription	Ovary	ovary
11	chr4:21115200-21115600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:21115400-21115800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:21115600-21116000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:21116000-21116600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:21116600-21116800	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:21116800-21120000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:21118800-21119000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:21118800-21119200	Active TSS	HSMM	muscle
21	chr4:21119000-21120200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:21119200-21120200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:21119200-21120600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:21119200-21120600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:21119200-21120800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:21119400-21120400	Enhancers	Brain Germinal Matrix	brain
27	chr4:21119600-21120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:21119600-21120600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:21119800-21120000	Enhancers	Ovary	ovary
30	chr4:21119800-21120600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:21120000-21120400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:21120000-21120400	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:21120000-21120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:21127400-21130000	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:21127600-21130400	Enhancers	Colon Smooth Muscle	Colon
36	chr4:21137000-21138800	Enhancers	HUVEC	blood vessel
37	chr4:21152000-21153600	Enhancers	HepG2	liver
38	chr4:21160800-21161200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:21166400-21169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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