Variant report

Variant	nsv430991
Chromosome Location	chr2:49836326-49971708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:
2	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:
3	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
4	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:
5	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
6	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
7	chr2:49843797..49844715-chr2:50070161..50071037,2	MCF-7	breast:

Extended variants
information (count: 1522 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76795827	chr2:49847892-49847893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554495299	chr2:49847932-49847933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186496515	chr2:49847960-49847961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374980098	chr2:49847964-49847965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146569596	chr2:49847965-49847966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60675270	chr2:49847975-49847976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139794363	chr2:49847980-49847981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559349433	chr2:49847991-49847992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189728010	chr2:49848010-49848011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371927751	chr2:49848061-49848062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530038073	chr2:49848068-49848069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549085794	chr2:49848086-49848087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561313597	chr2:49848092-49848093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541457514	chr2:49848160-49848161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531832934	chr2:49848161-49848162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550259232	chr2:49848164-49848165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116242281	chr2:49848168-49848169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532727111	chr2:49848183-49848184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149821298	chr2:49848184-49848185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375067669	chr2:49848225-49848226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115468114	chr2:49848254-49848255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536982965	chr2:49848258-49848259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4971869	chr2:49848288-49848289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373510494	chr2:49848303-49848304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536650285	chr2:49848327-49848328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182382222	chr2:49848328-49848329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187097295	chr2:49848378-49848379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540851879	chr2:49848410-49848411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145827208	chr2:49848415-49848416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574641293	chr2:49848422-49848423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191338049	chr2:49848542-49848543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563585199	chr2:49848574-49848575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531692792	chr2:49848628-49848629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567247171	chr2:49848699-49848700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543861144	chr2:49848700-49848701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565346738	chr2:49848734-49848735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149005723	chr2:49848736-49848737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147124086	chr2:49848751-49848752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566312195	chr2:49848775-49848776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530238118	chr2:49848783-49848784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369046737	chr2:49848799-49848800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141074175	chr2:49848827-49848828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183656783	chr2:49848839-49848840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558162932	chr2:49848842-49848843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570190253	chr2:49848871-49848872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146936537	chr2:49848873-49848874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114345833	chr2:49848892-49848893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137974998	chr2:49848912-49848913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541663625	chr2:49848970-49848971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543502666	chr2:49859015-49859016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49847800-49848800	Enhancers	Fetal Heart	heart
2	chr2:49848400-49849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49859000-49866400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:49865600-49865800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:49867200-49868800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:49867400-49867600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:49867400-49868400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:49867400-49868600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:49867400-49868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:49867400-49868800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:49867400-49868800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:49867600-49868200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:49867600-49868400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:49867600-49868800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:49867800-49868400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:49868200-49869000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:49882600-49883000	Enhancers	Brain Hippocampus Middle	brain
18	chr2:49882800-49883200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:49898800-49899200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:49899600-49900800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:49900800-49902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:49902000-49902600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:49902800-49903600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:49905200-49905400	Enhancers	Lung	lung
25	chr2:49909000-49909600	Enhancers	Adipose Nuclei	Adipose
26	chr2:49913400-49913800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:49914200-49915800	Enhancers	Fetal Brain Male	brain
28	chr2:49939000-49939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:49939600-49939800	Enhancers	Right Ventricle	heart
30	chr2:49939800-49943000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:49940200-49941600	Weak transcription	Right Ventricle	heart
32	chr2:49941000-49941400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:49941200-49941800	Enhancers	Gastric	stomach
34	chr2:49941200-49941800	ZNF genes & repeats	Pancreas	Pancrea
35	chr2:49941400-49945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:49941600-49941800	Enhancers	Right Ventricle	heart
37	chr2:49941600-49942000	Enhancers	Stomach Mucosa	stomach
38	chr2:49941800-49943000	Weak transcription	Gastric	stomach
39	chr2:49941800-49943000	Weak transcription	Pancreas	Pancrea
40	chr2:49941800-49943400	Weak transcription	Right Ventricle	heart
41	chr2:49942000-49943000	Weak transcription	Stomach Mucosa	stomach
42	chr2:49943000-49943800	Enhancers	Gastric	stomach
43	chr2:49943000-49943800	Enhancers	Pancreas	Pancrea
44	chr2:49943000-49943800	Enhancers	Stomach Mucosa	stomach
45	chr2:49943000-49944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:49943400-49943800	Enhancers	Right Ventricle	heart
47	chr2:49945200-49947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:49946200-49946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:49946400-49947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:49946600-49946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links