Variant report

Variant	nsv521639
Chromosome Location	chr2:180439541-180443444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180441137..180442663-chr2:180445038..180447990,2	K562	blood:
2	chr2:180443407..180444331-chr2:180511344..180511849,2	MCF-7	breast:
3	chr2:180438670..180439638-chr2:180510962..180512189,4	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4894109	chr2:180439541-180439542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185969173	chr2:180439551-180439552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1515304	chr2:180439621-180439622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535100632	chr2:180439674-180439675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560199565	chr2:180439733-180439734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115928160	chr2:180439736-180439737	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545811633	chr2:180439778-180439779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1515305	chr2:180439782-180439783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142636470	chr2:180439792-180439793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1515306	chr2:180439812-180439813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs568614510	chr2:180439864-180439865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4893876	chr2:180439902-180439903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547647150	chr2:180439908-180439909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36005945	chr2:180439938-180439939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570516887	chr2:180439951-180439952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539487097	chr2:180439958-180439959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537848445	chr2:180439990-180439991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548363068	chr2:180439998-180439999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370272052	chr2:180440009-180440010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556121661	chr2:180440053-180440054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6433797	chr2:180440141-180440142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571393864	chr2:180440203-180440204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76626557	chr2:180440234-180440235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191557786	chr2:180440278-180440279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183312271	chr2:180440295-180440296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375185260	chr2:180440335-180440336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540535647	chr2:180440381-180440382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554154501	chr2:180440386-180440387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577201548	chr2:180440387-180440388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567961826	chr2:180440403-180440404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3112976	chr2:180440437-180440438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs146913567	chr2:180440475-180440476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576079732	chr2:180440487-180440488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115356265	chr2:180440489-180440490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562155311	chr2:180440497-180440498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144298947	chr2:180440515-180440516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527834025	chr2:180440521-180440522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547583981	chr2:180440566-180440567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367722655	chr2:180440633-180440634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573868497	chr2:180440641-180440642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10208908	chr2:180440683-180440684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533422604	chr2:180440749-180440750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549925951	chr2:180440784-180440785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17766255	chr2:180440806-180440807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs16866800	chr2:180440832-180440833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115028690	chr2:180440844-180440845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566036624	chr2:180440880-180440881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369795024	chr2:180440940-180440941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17817451	chr2:180440953-180440954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553995361	chr2:180440976-180440977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180433000-180440800	Weak transcription	Gastric	stomach
2	chr2:180433000-180445600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:180435400-180446400	Weak transcription	Fetal Kidney	kidney
5	chr2:180437600-180445200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180438400-180439800	Flanking Active TSS	Liver	Liver
7	chr2:180438600-180439800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180438600-180439800	Enhancers	Osteobl	bone
9	chr2:180438800-180439600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:180438800-180439600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:180438800-180439800	Enhancers	Fetal Lung	lung
12	chr2:180439000-180441000	Enhancers	HepG2	liver
13	chr2:180439200-180439600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:180439400-180443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:180439400-180445000	Weak transcription	Stomach Mucosa	stomach
16	chr2:180439600-180439800	Enhancers	Fetal Intestine Large	intestine
17	chr2:180439600-180443000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:180439800-180443000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:180439800-180445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:180439800-180445200	Weak transcription	Fetal Lung	lung
21	chr2:180439800-180446400	Enhancers	Liver	Liver
22	chr2:180440800-180441200	Enhancers	Gastric	stomach
23	chr2:180441000-180442400	Weak transcription	HepG2	liver
24	chr2:180441200-180445200	Weak transcription	Pancreas	Pancrea
25	chr2:180442400-180446800	Enhancers	HepG2	liver
26	chr2:180443000-180443600	Enhancers	Fetal Intestine Large	intestine
27	chr2:180443000-180443600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:180443200-180443600	Enhancers	Fetal Intestine Small	intestine
29	chr2:180443200-180443800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:180443200-180444200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links