Variant report

Variant	nsv961915
Chromosome Location	chr2:178860061-178863452
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	chr2:178860190..178862819-chr2:178863272..178865275,2	K562	blood:

Variant related genes	Relation type
ENSG00000213962	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573047208	chr2:178860092-178860093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539073199	chr2:178860147-178860148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558632033	chr2:178860242-178860243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78105705	chr2:178860243-178860244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532162603	chr2:178860284-178860285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201036985	chr2:178860373-178860374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540888268	chr2:178860375-178860376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2366354	chr2:178860377-178860378	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561169825	chr2:178860381-178860382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182730714	chr2:178860519-178860520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369289809	chr2:178860563-178860564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560496299	chr2:178860616-178860617	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187766814	chr2:178860680-178860681	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551362482	chr2:178860691-178860692	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564689552	chr2:178860712-178860713	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148090610	chr2:178860849-178860850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550721639	chr2:178860875-178860876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62183413	chr2:178860910-178860911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77128835	chr2:178860925-178860926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79732135	chr2:178860958-178860959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147778947	chr2:178860959-178860960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199599687	chr2:178860960-178860961	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76009770	chr2:178860969-178860970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534611265	chr2:178861026-178861027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546817270	chr2:178861070-178861071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566765705	chr2:178861100-178861101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71423535	chr2:178861102-178861103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547082533	chr2:178861110-178861111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558926631	chr2:178861150-178861151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111312854	chr2:178861160-178861161	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79388043	chr2:178861163-178861164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536686930	chr2:178861164-178861165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2060490	chr2:178861177-178861178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574588672	chr2:178861189-178861190	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs36051210	chr2:178861196-178861197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34684690	chr2:178861201-178861202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs397868412	chr2:178861203-178861204	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397872812	chr2:178861212-178861213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375395233	chr2:178861214-178861215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2060491	chr2:178861231-178861232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546150381	chr2:178861248-178861249	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563173417	chr2:178861254-178861255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530556650	chr2:178861288-178861289	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142841688	chr2:178861292-178861293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561014248	chr2:178861313-178861314	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529770611	chr2:178861377-178861378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546825838	chr2:178861397-178861398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566514569	chr2:178861404-178861405	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532460183	chr2:178861421-178861422	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192343495	chr2:178861543-178861544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854600-178861400	Weak transcription	A549	lung
2	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:178860600-178863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:178861200-178864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:178861400-178861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:178861400-178861600	Enhancers	A549	lung
9	chr2:178861400-178863800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:178861600-178862400	Weak transcription	A549	lung
11	chr2:178861600-178862600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:178862000-178862600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:178862000-178863600	Enhancers	HSMM	muscle
14	chr2:178862000-178863800	Enhancers	HSMMtube	muscle
15	chr2:178862200-178863600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:178862200-178863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:178862200-178863600	Enhancers	NH-A	brain
18	chr2:178862400-178863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:178862400-178863600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:178862400-178863600	Enhancers	A549	lung
21	chr2:178862400-178863600	Enhancers	HMEC	breast
22	chr2:178862400-178863600	Enhancers	Osteobl	bone
23	chr2:178862600-178863200	Enhancers	NHEK	skin
24	chr2:178862600-178863800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:178863000-178863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:178863200-178863600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links