Variant report

Variant	nsv2678
Chromosome Location	chr2:36190997-36229827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36198095..36199022-chr2:36584804..36585700,2	MCF-7	breast:
2	chr2:36208827..36211193-chr2:36213089..36216018,2	MCF-7	breast:
3	chr2:36198079..36198752-chr2:36549195..36549978,3	MCF-7	breast:
4	chr2:36222475..36223224-chr6:31509383..31509944,2	MCF-7	breast:
5	chr2:36208827..36211193-chr2:36213089..36216018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198563	chromatin interactions

Extended variants
information (count: 516 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569147723	chr2:36196616-36196617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149552370	chr2:36196618-36196619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541138686	chr2:36196646-36196647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77719563	chr2:36196647-36196648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80333620	chr2:36196693-36196694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117939766	chr2:36196695-36196696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563881777	chr2:36196707-36196708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531153510	chr2:36196724-36196725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549640322	chr2:36196745-36196746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189716371	chr2:36196748-36196749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77962481	chr2:36196753-36196754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562406369	chr2:36196817-36196818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77886557	chr2:36196818-36196819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539525135	chr2:36196821-36196822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534037525	chr2:36196824-36196825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557696636	chr2:36196833-36196834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12468805	chr2:36196923-36196924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115100169	chr2:36196986-36196987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12468833	chr2:36197009-36197010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116302444	chr2:36197010-36197011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370757724	chr2:36197013-36197014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12468835	chr2:36197018-36197019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541001747	chr2:36197019-36197020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200723662	chr2:36197020-36197021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577739316	chr2:36197030-36197031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543755294	chr2:36197087-36197088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555762349	chr2:36197095-36197096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113629488	chr2:36197097-36197098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563767898	chr2:36197107-36197108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76477481	chr2:36197112-36197113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368441573	chr2:36197131-36197132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563030174	chr2:36197212-36197213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549414729	chr2:36197238-36197239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144255673	chr2:36197262-36197263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528912491	chr2:36197289-36197290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545360542	chr2:36197290-36197291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547451447	chr2:36197337-36197338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565658928	chr2:36197370-36197371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113114074	chr2:36197385-36197386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377422442	chr2:36197391-36197392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79823464	chr2:36197477-36197478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569762331	chr2:36197495-36197496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148376139	chr2:36197534-36197535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141591177	chr2:36197548-36197549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567191660	chr2:36197616-36197617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183213469	chr2:36197657-36197658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527872620	chr2:36197671-36197672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552994314	chr2:36197681-36197682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371209660	chr2:36197686-36197687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376242435	chr2:36197692-36197693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36196600-36197000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:36196600-36197000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:36196600-36197000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:36196600-36197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:36196600-36197000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:36197000-36198800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:36198200-36199200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:36198600-36198800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:36198600-36199600	Enhancers	HUVEC	blood vessel
10	chr2:36198800-36199000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:36198800-36199200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:36198800-36199200	Enhancers	Brain Anterior Caudate	brain
13	chr2:36198800-36199200	Enhancers	HSMM	muscle
14	chr2:36199200-36201400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:36200200-36200400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:36200200-36200400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:36200400-36201800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:36200600-36201800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:36200800-36203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:36201400-36201600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:36201600-36202200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:36201800-36202400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:36201800-36203400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:36201800-36203800	Enhancers	Primary T cells from cord blood	blood
25	chr2:36201800-36204200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:36202000-36204400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:36202200-36203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:36202400-36202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:36202800-36203600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:36203000-36203600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:36203200-36203600	Active TSS	Primary T cells fromperipheralblood	blood
32	chr2:36203200-36203600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:36203200-36204400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:36203400-36203800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:36213800-36214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:36214000-36215200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:36214200-36214400	Enhancers	HepG2	liver
38	chr2:36214200-36215000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:36214200-36215000	Enhancers	Brain Anterior Caudate	brain
40	chr2:36214200-36215400	Enhancers	Fetal Intestine Large	intestine
41	chr2:36214400-36214800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:36214400-36214800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:36214400-36214800	Enhancers	Small Intestine	intestine
44	chr2:36214400-36215000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:36214400-36215000	Flanking Active TSS	HepG2	liver
46	chr2:36214600-36215000	Enhancers	Esophagus	oesophagus
47	chr2:36214600-36215000	Active TSS	A549	lung
48	chr2:36214600-36215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:36214600-36215400	Enhancers	Fetal Intestine Small	intestine
50	chr2:36215000-36215400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links