Variant report

Variant	nsv900398
Chromosome Location	chr13:67212422-67343266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
2	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
3	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
4	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
5	chr12:53194673..53195335-chr13:67228858..67229378,2	MCF-7	breast:
6	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
7	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
8	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
9	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:
10	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:

No data

Extended variants
information (count: 3284 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3284 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2324958	chr13:67212422-67212423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538437432	chr13:67212505-67212506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147735808	chr13:67212520-67212521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116552224	chr13:67212521-67212522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374424310	chr13:67212532-67212533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117681509	chr13:67212557-67212558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535769977	chr13:67212571-67212572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186772260	chr13:67212573-67212574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9540845	chr13:67212635-67212636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566372479	chr13:67212753-67212754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572488701	chr13:67212776-67212777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538712305	chr13:67212866-67212867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558333069	chr13:67212898-67212899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78364285	chr13:67212901-67212902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9540846	chr13:67212940-67212941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191259389	chr13:67212963-67212964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574779136	chr13:67213078-67213079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564657899	chr13:67213119-67213120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183168707	chr13:67213284-67213285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553730782	chr13:67213295-67213296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576815263	chr13:67213305-67213306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186783862	chr13:67213320-67213321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189958637	chr13:67213427-67213428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562816155	chr13:67213431-67213432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553226213	chr13:67213472-67213473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183311072	chr13:67213556-67213557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544382917	chr13:67213615-67213616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561107557	chr13:67213672-67213673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530014522	chr13:67213680-67213681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546950228	chr13:67213718-67213719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554809999	chr13:67213774-67213775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560343122	chr13:67213798-67213799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187739898	chr13:67213800-67213801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531982293	chr13:67213830-67213831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552153603	chr13:67213870-67213871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193119628	chr13:67213892-67213893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542132257	chr13:67213945-67213946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537588055	chr13:67213953-67213954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554737766	chr13:67214011-67214012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560456225	chr13:67214037-67214038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568346843	chr13:67214086-67214087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534208641	chr13:67214134-67214135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371540639	chr13:67214178-67214179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183468984	chr13:67214205-67214206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577490618	chr13:67214233-67214234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188546488	chr13:67214312-67214313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572994125	chr13:67214331-67214332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113941039	chr13:67214341-67214342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192910693	chr13:67214352-67214353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556531667	chr13:67214364-67214365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	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	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67210000-67213000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:67210000-67213200	Weak transcription	Brain Anterior Caudate	brain
3	chr13:67210000-67214600	Weak transcription	Brain Substantia Nigra	brain
4	chr13:67211200-67213400	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67212400-67212600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:67212400-67213000	Enhancers	Brain Germinal Matrix	brain
7	chr13:67212400-67215000	Enhancers	Fetal Kidney	kidney
8	chr13:67212800-67213200	Enhancers	Fetal Brain Female	brain
9	chr13:67212800-67213400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:67212800-67213400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:67212800-67213600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:67212800-67213600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:67213000-67213400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:67213000-67213600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:67213200-67213600	Enhancers	Brain Anterior Caudate	brain
16	chr13:67213200-67214200	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:67213400-67213600	Enhancers	Brain Hippocampus Middle	brain
18	chr13:67213400-67214200	Enhancers	Primary B cells from cord blood	blood
19	chr13:67213600-67218600	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:67214200-67217600	Weak transcription	Primary B cells from cord blood	blood
21	chr13:67214200-67219000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:67214600-67214800	Enhancers	Brain Substantia Nigra	brain
23	chr13:67214800-67215200	Weak transcription	Brain Substantia Nigra	brain
24	chr13:67215200-67215800	Enhancers	Brain Substantia Nigra	brain
25	chr13:67215800-67221200	Weak transcription	Brain Substantia Nigra	brain
26	chr13:67217600-67218400	Enhancers	Primary B cells from cord blood	blood
27	chr13:67218000-67218800	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:67218400-67218800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr13:67218400-67218800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:67218400-67218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:67218600-67218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:67218600-67218800	Enhancers	Brain Hippocampus Middle	brain
33	chr13:67218800-67219000	Active TSS	Primary B cells from cord blood	blood
34	chr13:67218800-67219200	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:67219000-67219200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr13:67219000-67220200	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:67219200-67219400	Active TSS	Primary B cells from cord blood	blood
38	chr13:67219200-67219400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:67219200-67219400	Enhancers	Brain Hippocampus Middle	brain
40	chr13:67219400-67219600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr13:67219400-67221000	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:67219600-67221400	Enhancers	Primary B cells from cord blood	blood
43	chr13:67220200-67221000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:67221000-67221200	Enhancers	Brain Hippocampus Middle	brain
45	chr13:67221000-67221200	Enhancers	Left Ventricle	heart
46	chr13:67221000-67221400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:67221000-67221600	Enhancers	Primary B cells from peripheral blood	blood
48	chr13:67221200-67222600	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:67221200-67222600	Enhancers	Brain Substantia Nigra	brain
50	chr13:67221200-67222600	Weak transcription	Left Ventricle	heart

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