Variant report

Variant	nsv514199
Chromosome Location	chr4:15765852-15768377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575174865	chr4:15765857-15765858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75107201	chr4:15765905-15765906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184539002	chr4:15765966-15765967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530214731	chr4:15765967-15765968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368608784	chr4:15765987-15765988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544972587	chr4:15766062-15766063	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148588366	chr4:15766085-15766086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550342113	chr4:15766104-15766105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570787844	chr4:15766130-15766131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568665085	chr4:15766144-15766145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546829675	chr4:15766150-15766151	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376702829	chr4:15766157-15766158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116633612	chr4:15766216-15766217	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554810430	chr4:15766291-15766292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568527905	chr4:15766292-15766293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537080882	chr4:15766295-15766296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556911262	chr4:15766309-15766310	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190599693	chr4:15766315-15766316	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546047514	chr4:15766340-15766341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369932388	chr4:15766407-15766408	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142918630	chr4:15766430-15766431	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573406212	chr4:15766432-15766433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542400621	chr4:15766449-15766450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10018346	chr4:15766455-15766456	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561662771	chr4:15766485-15766486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10526422	chr4:15766496-15766497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35232805	chr4:15766497-15766498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113549706	chr4:15766498-15766499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149712411	chr4:15766508-15766509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs59542150	chr4:15766517-15766518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs59147158	chr4:15766519-15766520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74970577	chr4:15766521-15766522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs367698233	chr4:15766539-15766540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs150679914	chr4:15766704-15766705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77256370	chr4:15766710-15766711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182041326	chr4:15766749-15766750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533272730	chr4:15766764-15766765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186018974	chr4:15766797-15766798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539266792	chr4:15766814-15766815	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560464377	chr4:15766821-15766822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190730867	chr4:15766823-15766824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559129212	chr4:15766843-15766844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76192623	chr4:15766844-15766845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371964687	chr4:15766893-15766894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76782925	chr4:15766923-15766924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537518754	chr4:15766929-15766930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12647844	chr4:15766933-15766934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140066249	chr4:15766955-15766956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181146654	chr4:15766959-15766960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114724760	chr4:15767051-15767052	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15759200-15766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:15759200-15767800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:15759800-15766200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:15760000-15767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:15760000-15767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:15760200-15767200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:15761000-15767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:15762000-15767800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:15762800-15766200	Weak transcription	Fetal Thymus	thymus
11	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:15763400-15766400	Weak transcription	Primary T cells from cord blood	blood
13	chr4:15763600-15767000	Weak transcription	GM12878-XiMat	blood
14	chr4:15763800-15766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:15764000-15766200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:15764600-15767400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:15764800-15775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:15765400-15767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:15765400-15767200	Enhancers	Thymus	Thymus
20	chr4:15765600-15768000	Flanking Active TSS	Dnd41	blood
21	chr4:15766200-15766400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:15766200-15767800	Enhancers	Fetal Thymus	thymus
23	chr4:15766200-15769000	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:15766200-15769800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:15766400-15767200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:15766400-15767200	Enhancers	Spleen	Spleen
27	chr4:15766400-15768200	Enhancers	Primary T cells from cord blood	blood
28	chr4:15766400-15769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:15766600-15767200	Enhancers	Left Ventricle	heart
30	chr4:15766800-15768800	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:15766800-15770000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:15766800-15771000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:15766800-15771200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:15767000-15767200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:15767000-15767200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:15767000-15767400	Enhancers	HMEC	breast
37	chr4:15767000-15767400	Enhancers	NHEK	skin
38	chr4:15767000-15767600	Enhancers	GM12878-XiMat	blood
39	chr4:15767000-15769000	Enhancers	Primary B cells from cord blood	blood
40	chr4:15767000-15769000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:15767000-15771200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:15767200-15767400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:15767200-15767600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:15767200-15767600	Flanking Active TSS	Thymus	Thymus
45	chr4:15767200-15768000	Enhancers	Right Ventricle	heart
46	chr4:15767200-15768400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr4:15767200-15771000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:15767200-15771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:15767200-15771200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:15767200-15771200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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