Variant report

Variant	nsv977396
Chromosome Location	chr13:85803364-85833396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85815432..85817346-chr13:85817790..85819847,2	MCF-7	breast:
2	chr13:85815432..85817346-chr13:85817790..85819847,2	MCF-7	breast:

Extended variants
information (count: 650 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537700160	chr13:85803383-85803384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556529357	chr13:85803420-85803421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369378569	chr13:85803435-85803436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550623747	chr13:85803463-85803464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115236216	chr13:85803480-85803481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1387785	chr13:85803499-85803500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553875857	chr13:85803550-85803551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572191720	chr13:85803577-85803578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138336612	chr13:85803631-85803632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115718702	chr13:85803681-85803682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576676943	chr13:85803735-85803736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77472253	chr13:85803768-85803769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562520869	chr13:85803769-85803770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143822177	chr13:85803808-85803809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548188756	chr13:85803826-85803827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191539767	chr13:85803841-85803842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9575840	chr13:85803897-85803898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556151514	chr13:85803923-85803924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79186289	chr13:85804085-85804086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1387784	chr13:85804087-85804088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184294742	chr13:85804162-85804163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149638832	chr13:85804186-85804187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371388984	chr13:85804213-85804214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549778595	chr13:85804258-85804259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115142678	chr13:85804266-85804267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535490290	chr13:85804313-85804314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147227017	chr13:85804314-85804315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140634132	chr13:85804343-85804344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539502835	chr13:85804352-85804353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558341939	chr13:85804361-85804362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2932521	chr13:85804367-85804368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544118616	chr13:85804398-85804399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540406893	chr13:85804432-85804433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565159008	chr13:85804476-85804477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9319122	chr13:85804511-85804512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540333022	chr13:85804526-85804527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190016723	chr13:85804541-85804542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544311736	chr13:85804542-85804543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560141158	chr13:85804602-85804603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192702924	chr13:85804607-85804608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562694958	chr13:85804614-85804615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564326224	chr13:85804649-85804650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531432478	chr13:85804674-85804675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372320599	chr13:85804677-85804678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530105262	chr13:85804700-85804701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369527870	chr13:85804726-85804727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529147613	chr13:85804729-85804730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201992540	chr13:85804731-85804732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201555742	chr13:85804732-85804733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547391160	chr13:85804779-85804780	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85798000-85804200	Weak transcription	Fetal Stomach	stomach
2	chr13:85798800-85803600	Weak transcription	Fetal Lung	lung
3	chr13:85803600-85804200	Enhancers	Fetal Lung	lung
4	chr13:85804200-85804600	Weak transcription	Fetal Lung	lung
5	chr13:85804200-85805000	Enhancers	Fetal Stomach	stomach
6	chr13:85804600-85804800	Enhancers	Fetal Lung	lung
7	chr13:85804600-85805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:85804800-85805200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:85804800-85805200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:85804800-85805200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:85804800-85805200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:85804800-85805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:85804800-85805200	Active TSS	Brain Anterior Caudate	brain
14	chr13:85804800-85805200	Active TSS	Brain Substantia Nigra	brain
15	chr13:85804800-85805200	Active TSS	Fetal Kidney	kidney
16	chr13:85804800-85805200	Flanking Active TSS	Fetal Lung	lung
17	chr13:85804800-85805200	Enhancers	NHLF	lung
18	chr13:85805000-85805200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:85805000-85805200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:85805200-85810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:85810200-85810800	Active TSS	A549	lung
22	chr13:85810200-85810800	Enhancers	NHEK	skin
23	chr13:85810400-85811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:85810400-85811400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:85810600-85811000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:85810600-85811200	Enhancers	HUVEC	blood vessel
27	chr13:85810800-85811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:85810800-85811200	Flanking Active TSS	A549	lung
29	chr13:85810800-85811200	Enhancers	HMEC	breast
30	chr13:85810800-85811200	Flanking Active TSS	NHEK	skin
31	chr13:85810800-85811400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:85811000-85811400	Enhancers	Hela-S3	cervix
33	chr13:85811200-85811400	Enhancers	NHEK	skin
34	chr13:85811200-85814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:85811200-85814200	Weak transcription	HMEC	breast
36	chr13:85811200-85814800	Weak transcription	A549	lung
37	chr13:85811200-85814800	Weak transcription	HUVEC	blood vessel
38	chr13:85811400-85814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:85811400-85814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:85811400-85814000	Weak transcription	NHEK	skin
41	chr13:85811400-85815000	Weak transcription	Hela-S3	cervix
42	chr13:85814000-85814800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:85814000-85815600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:85814000-85815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:85814000-85816000	Enhancers	NHEK	skin
46	chr13:85814000-85816200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:85814200-85815600	Enhancers	HMEC	breast
48	chr13:85814800-85815600	Enhancers	A549	lung
49	chr13:85814800-85815800	Enhancers	HUVEC	blood vessel
50	chr13:85815000-85815600	Enhancers	Hela-S3	cervix

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