Variant report

Variant	nsv961400
Chromosome Location	chr2:38866254-38867269
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:
2	chr2:38826787..38828390-chr2:38864612..38866971,2	K562	blood:
3	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:
4	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
5	chr2:38823810..38825373-chr2:38867072..38871026,3	K562	blood:
6	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
7	chr2:38830024..38832660-chr2:38864551..38867364,2	K562	blood:
8	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:
9	chr2:38829011..38830871-chr2:38864426..38867339,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143889	chromatin interactions
ENSG00000235586	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533734029	chr2:38866325-38866326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs558265177	chr2:38866346-38866347	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570568039	chr2:38866347-38866348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181710752	chr2:38866356-38866357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186004703	chr2:38866363-38866364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376826376	chr2:38866385-38866386	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574265444	chr2:38866387-38866388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564276523	chr2:38866444-38866445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573146847	chr2:38866454-38866455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112913032	chr2:38866491-38866492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565331836	chr2:38866492-38866493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531558860	chr2:38866496-38866497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201497761	chr2:38866514-38866515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572906322	chr2:38866551-38866552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs76332493	chr2:38866564-38866565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540672495	chr2:38866579-38866580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182646491	chr2:38866601-38866602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186188054	chr2:38866655-38866656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532615441	chr2:38866656-38866657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372526423	chr2:38866669-38866670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111440980	chr2:38866685-38866686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563088230	chr2:38866686-38866687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10166466	chr2:38866729-38866730	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113059441	chr2:38866744-38866745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191031346	chr2:38866752-38866753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182446367	chr2:38866761-38866762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377308130	chr2:38866767-38866768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548338676	chr2:38866769-38866770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7561778	chr2:38866808-38866809	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189108716	chr2:38866822-38866823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537968533	chr2:38866840-38866841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7600802	chr2:38866880-38866881	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567925324	chr2:38866948-38866949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs72909853	chr2:38867054-38867055	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552302697	chr2:38867070-38867071	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377728783	chr2:38867146-38867147	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553550347	chr2:38867156-38867157	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142578623	chr2:38867162-38867163	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545753805	chr2:38867212-38867213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38862800-38870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:38862800-38870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:38863600-38869800	Weak transcription	K562	blood
4	chr2:38865200-38870200	Weak transcription	Spleen	Spleen
5	chr2:38865800-38867000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:38867000-38867200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:38867000-38867400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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