Variant report

Variant	nsv874037
Chromosome Location	chr2:50889959-50922837
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	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216191	chromatin interactions

Extended variants
information (count: 942 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs991566	chr2:50889959-50889960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568228685	chr2:50889960-50889961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536778976	chr2:50890014-50890015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533944115	chr2:50890022-50890023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183223619	chr2:50890048-50890049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371283802	chr2:50890053-50890054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537040249	chr2:50890068-50890069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558871754	chr2:50890089-50890090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs698842	chr2:50890096-50890097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs117418299	chr2:50890098-50890099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1518541	chr2:50890147-50890148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574674764	chr2:50890154-50890155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541573862	chr2:50890160-50890161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563508023	chr2:50890216-50890217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186822216	chr2:50890244-50890245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148571475	chr2:50890245-50890246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551891318	chr2:50890249-50890250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564081603	chr2:50890270-50890271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142910463	chr2:50890276-50890277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547420865	chr2:50890283-50890284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546901435	chr2:50890299-50890300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367833566	chr2:50890300-50890301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535640058	chr2:50890333-50890334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548739445	chr2:50890335-50890336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570060815	chr2:50890353-50890354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555155253	chr2:50890409-50890410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558700530	chr2:50890416-50890417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570787671	chr2:50890485-50890486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567230887	chr2:50890489-50890490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192585581	chr2:50890518-50890519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554923228	chr2:50890542-50890543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151126413	chr2:50890565-50890566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536244611	chr2:50890592-50890593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574733528	chr2:50890617-50890618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139954698	chr2:50890666-50890667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556343151	chr2:50890667-50890668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557089039	chr2:50890675-50890676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574746488	chr2:50890735-50890736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17040926	chr2:50890766-50890767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145054055	chr2:50890794-50890795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569632013	chr2:50890804-50890805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545849279	chr2:50890817-50890818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370256553	chr2:50890849-50890850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538863503	chr2:50890858-50890859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558436425	chr2:50890887-50890888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528069197	chr2:50890932-50890933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373330990	chr2:50890968-50890969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540578663	chr2:50890981-50890982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59075821	chr2:50890992-50890993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543897406	chr2:50890993-50890994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50886400-50890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:50886800-50890600	Weak transcription	NHEK	skin
3	chr2:50888400-50890800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:50888600-50890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:50889400-50890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:50890400-50890800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:50890400-50899200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:50890600-50891400	Enhancers	NHEK	skin
9	chr2:50890800-50891000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:50890800-50895000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:50894800-50895800	Enhancers	Brain Angular Gyrus	brain
12	chr2:50895000-50895200	Enhancers	Brain Germinal Matrix	brain
13	chr2:50895000-50895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:50895000-50895800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:50895200-50896200	Enhancers	Brain Substantia Nigra	brain
16	chr2:50895600-50896000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:50895800-50896000	Enhancers	Brain Germinal Matrix	brain
18	chr2:50896000-50896400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:50899200-50899600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:50899200-50899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:50899600-50899800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:50904200-50904600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:50905400-50905800	Enhancers	Brain Hippocampus Middle	brain
24	chr2:50905600-50906200	Enhancers	Brain Anterior Caudate	brain
25	chr2:50905800-50906200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:50913400-50914000	Enhancers	Brain Angular Gyrus	brain
27	chr2:50913400-50914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:50913600-50914800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:50913600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:50913600-50916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:50913800-50915800	Enhancers	Brain Anterior Caudate	brain
32	chr2:50913800-50916200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:50914000-50914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:50914000-50914200	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:50914000-50914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:50914000-50917800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:50914200-50915200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:50914200-50916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:50914200-50918600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:50914400-50918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:50914600-50914800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:50914600-50914800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:50914600-50915200	Enhancers	Fetal Heart	heart
44	chr2:50914800-50915200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:50914800-50915200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:50914800-50915800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:50915000-50915200	Enhancers	Brain Substantia Nigra	brain
48	chr2:50915000-50915400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:50915000-50915600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:50915200-50915600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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