Variant report

Variant	nsv967727
Chromosome Location	chr4:15768208-15770683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558356090	chr4:15768234-15768235	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149983606	chr4:15768285-15768286	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12502292	chr4:15768299-15768300	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184567707	chr4:15768304-15768305	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573631246	chr4:15768348-15768349	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs16892402	chr4:15768352-15768353	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556458058	chr4:15768403-15768404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374345601	chr4:15768410-15768411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143537006	chr4:15768411-15768412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs59331465	chr4:15768432-15768433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75172648	chr4:15768433-15768434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575910979	chr4:15768439-15768440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544823273	chr4:15768450-15768451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs68040828	chr4:15768499-15768500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145046785	chr4:15768518-15768519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116796595	chr4:15768524-15768525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560380697	chr4:15768529-15768530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529328830	chr4:15768551-15768552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549091930	chr4:15768591-15768592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149122604	chr4:15768632-15768633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532011063	chr4:15768637-15768638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552013545	chr4:15768655-15768656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188255970	chr4:15768682-15768683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534129531	chr4:15768693-15768694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553874612	chr4:15768696-15768697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143129396	chr4:15768714-15768715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10005419	chr4:15768755-15768756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs555855746	chr4:15768758-15768759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536067582	chr4:15768779-15768780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554815983	chr4:15768786-15768787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558330452	chr4:15768787-15768788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571955818	chr4:15768795-15768796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540858292	chr4:15768801-15768802	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs6824164	chr4:15768809-15768810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573077861	chr4:15768816-15768817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs13134405	chr4:15768824-15768825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566307805	chr4:15768835-15768836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534994840	chr4:15768844-15768845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534177378	chr4:15768859-15768860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138855184	chr4:15768874-15768875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141211464	chr4:15768917-15768918	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111775272	chr4:15768933-15768934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527922430	chr4:15768952-15768953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547655205	chr4:15768990-15768991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146950209	chr4:15769020-15769021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535931929	chr4:15769079-15769080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549373524	chr4:15769139-15769140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569260243	chr4:15769147-15769148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538241022	chr4:15769149-15769150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535815846	chr4:15769173-15769174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	21509527	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:15766200-15769000	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:15766200-15769800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:15766400-15769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:15766800-15768800	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:15766800-15770000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:15766800-15771000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:15766800-15771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:15767000-15769000	Enhancers	Primary B cells from cord blood	blood
11	chr4:15767000-15769000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:15767000-15771200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr4:15767200-15768400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:15767200-15771000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:15767200-15771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:15767200-15771200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:15767200-15771200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:15767200-15779400	Weak transcription	Spleen	Spleen
19	chr4:15767400-15768600	Enhancers	Liver	Liver
20	chr4:15767400-15769800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:15767600-15768800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:15767600-15768800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:15767600-15769000	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:15767800-15768400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:15767800-15768800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:15768000-15768400	Active TSS	Thymus	Thymus
27	chr4:15768000-15768400	Enhancers	Dnd41	blood
28	chr4:15768000-15771000	Weak transcription	Right Ventricle	heart
29	chr4:15768200-15768800	Enhancers	GM12878-XiMat	blood
30	chr4:15768200-15769000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:15768200-15770600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:15768200-15772400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr4:15768200-15775200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:15768200-15777200	Enhancers	Fetal Thymus	thymus
35	chr4:15768400-15768800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr4:15768400-15768800	Flanking Active TSS	Thymus	Thymus
37	chr4:15768400-15769000	Flanking Active TSS	Dnd41	blood
38	chr4:15768400-15772800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:15768800-15769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:15768800-15770000	Enhancers	Thymus	Thymus
41	chr4:15768800-15770800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:15768800-15771000	Weak transcription	GM12878-XiMat	blood
43	chr4:15768800-15773400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:15768800-15774800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr4:15769000-15770600	Enhancers	Dnd41	blood
46	chr4:15769000-15771200	Enhancers	Primary T cells from cord blood	blood
47	chr4:15769000-15772400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:15769000-15772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:15769000-15772800	Weak transcription	Primary B cells from cord blood	blood
50	chr4:15769000-15772800	Weak transcription	Duodenum Mucosa	Duodenum

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