Variant report

Variant	nsv520854
Chromosome Location	chr2:99369757-99373720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99361547..99363646-chr2:99366990..99369948,2	MCF-7	breast:
2	chr2:99359454..99362384-chr2:99372139..99374340,2	MCF-7	breast:
3	chr2:99346543..99348258-chr2:99368411..99371115,2	MCF-7	breast:
4	chr2:99367443..99369636-chr2:99372138..99374766,2	MCF-7	breast:
5	chr2:99373556..99376525-chr2:99380957..99383343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11123751	chr2:99369757-99369758	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79695533	chr2:99369803-99369804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192639506	chr2:99369819-99369820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6706340	chr2:99369845-99369846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs554978081	chr2:99369896-99369897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533834009	chr2:99369979-99369980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571924134	chr2:99369989-99369990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78513395	chr2:99369995-99369996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564614891	chr2:99370019-99370020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578127079	chr2:99370040-99370041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568328886	chr2:99370072-99370073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529109577	chr2:99370153-99370154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544004810	chr2:99370173-99370174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185689048	chr2:99370189-99370190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56163446	chr2:99370253-99370254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546081481	chr2:99370462-99370463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367545997	chr2:99370540-99370541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375654061	chr2:99370616-99370617	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190495566	chr2:99370619-99370620	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570389181	chr2:99370641-99370642	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144711828	chr2:99370660-99370661	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181734171	chr2:99370673-99370674	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368838072	chr2:99370700-99370701	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547677754	chr2:99370775-99370776	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570606576	chr2:99370828-99370829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185706965	chr2:99370909-99370910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549528315	chr2:99370925-99370926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569498369	chr2:99370973-99370974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535201876	chr2:99370978-99370979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188905173	chr2:99370988-99370989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151283493	chr2:99371009-99371010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181359224	chr2:99371059-99371060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558447904	chr2:99371102-99371103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566990913	chr2:99371130-99371131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578241379	chr2:99371142-99371143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564267656	chr2:99371143-99371144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557618124	chr2:99371151-99371152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574284675	chr2:99371161-99371162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116760410	chr2:99371178-99371179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62158041	chr2:99371196-99371197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559550407	chr2:99371210-99371211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185387176	chr2:99371224-99371225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545043519	chr2:99371228-99371229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564418400	chr2:99371242-99371243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533089340	chr2:99371245-99371246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140435587	chr2:99371258-99371259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114698929	chr2:99371265-99371266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529042596	chr2:99371266-99371267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150395652	chr2:99371290-99371291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138158623	chr2:99371333-99371334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
2	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
3	chr2:99362400-99372800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:99364800-99371200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:99365200-99372200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:99365400-99371600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:99365400-99372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:99365600-99373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:99365800-99374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:99366000-99369800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:99366200-99372200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:99366600-99373200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:99367000-99370200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:99367200-99370000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:99367400-99374000	Weak transcription	Esophagus	oesophagus
16	chr2:99368800-99370000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:99369600-99373600	Weak transcription	HUVEC	blood vessel
18	chr2:99369800-99371200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:99370000-99370400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:99370000-99371200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:99370200-99370800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:99370200-99371000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:99370400-99371400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:99370600-99370800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:99370800-99373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:99371000-99371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:99371000-99373800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:99371200-99371400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:99371200-99373800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:99371200-99374000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:99371400-99372200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:99371400-99373600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:99371600-99372800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:99371600-99374000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:99371600-99374400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:99372000-99372200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:99372200-99373800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:99372200-99374000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:99372200-99374000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:99372200-99380800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:99372400-99372600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:99372400-99372600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:99372600-99373000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:99372600-99373600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:99372800-99374000	Enhancers	Primary T cells from cord blood	blood
46	chr2:99373000-99374200	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:99373000-99374400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:99373200-99374200	Enhancers	Primary B cells from cord blood	blood
49	chr2:99373200-99374400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:99373400-99373800	Enhancers	Dnd41	blood

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