Variant report

Variant	nsv875730
Chromosome Location	chr2:206057649-206093367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:206078747..206080275-chr2:206087559..206089784,2	K562	blood:
2	chr2:206065124..206067806-chr2:206076302..206077858,2	MCF-7	breast:
3	chr2:206065124..206067806-chr2:206076302..206077858,2	MCF-7	breast:
4	chr2:206078747..206080275-chr2:206087559..206089784,2	K562	blood:

Extended variants
information (count: 1530 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1530 , 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	rs10932098	chr2:206057649-206057650	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564892569	chr2:206057700-206057701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72936131	chr2:206057707-206057708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576828853	chr2:206057734-206057735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1559010	chr2:206057737-206057738	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562819800	chr2:206057759-206057760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534655638	chr2:206057772-206057773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189628765	chr2:206057813-206057814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548395986	chr2:206057828-206057829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181044414	chr2:206057829-206057830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184418065	chr2:206057854-206057855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56834478	chr2:206057856-206057857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375516069	chr2:206057864-206057865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555313517	chr2:206057907-206057908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376530631	chr2:206057909-206057910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377059789	chr2:206057913-206057914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574557658	chr2:206057977-206057978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112260624	chr2:206057991-206057992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552311482	chr2:206057992-206057993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369015930	chr2:206058001-206058002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141261848	chr2:206058002-206058003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376395769	chr2:206058019-206058020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200496137	chr2:206058028-206058029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576955664	chr2:206058051-206058052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199551679	chr2:206058054-206058055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569562050	chr2:206058106-206058107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371534334	chr2:206058136-206058137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536442796	chr2:206058141-206058142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188810577	chr2:206058150-206058151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115959128	chr2:206058166-206058167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116232205	chr2:206058168-206058169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558645315	chr2:206058181-206058182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62172736	chr2:206058224-206058225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544629948	chr2:206058240-206058241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145046691	chr2:206058245-206058246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574724837	chr2:206058246-206058247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77213696	chr2:206058277-206058278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181490328	chr2:206058314-206058315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10932099	chr2:206058350-206058351	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534454618	chr2:206058362-206058363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552274989	chr2:206058368-206058369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1921798	chr2:206058404-206058405	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187324978	chr2:206058406-206058407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574429798	chr2:206058413-206058414	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192279853	chr2:206058426-206058427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549795391	chr2:206058444-206058445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1921800	chr2:206058461-206058462	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs543652041	chr2:206058470-206058471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1921801	chr2:206058504-206058505	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372108448	chr2:206058511-206058512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
3	chr2:206024200-206060400	Weak transcription	Liver	Liver
4	chr2:206025200-206060200	Weak transcription	Pancreas	Pancrea
5	chr2:206025800-206058000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:206026000-206058000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:206037600-206057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:206039000-206059600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:206040800-206058000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:206041600-206061400	Weak transcription	NHDF-Ad	bronchial
11	chr2:206041800-206062400	Weak transcription	HSMM	muscle
12	chr2:206046000-206062800	Weak transcription	Gastric	stomach
13	chr2:206046200-206057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:206047400-206062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:206048400-206059000	Weak transcription	Aorta	Aorta
16	chr2:206049000-206062600	Weak transcription	HSMMtube	muscle
17	chr2:206051000-206058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:206053200-206062400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:206053200-206062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:206053200-206062800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:206053400-206058000	Weak transcription	Ovary	ovary
22	chr2:206053400-206058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:206053400-206060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:206053400-206062200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:206053400-206062200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:206053600-206058400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:206053600-206062600	Weak transcription	NHLF	lung
28	chr2:206054000-206058200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:206054000-206060600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:206054200-206062400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:206054200-206062600	Weak transcription	Fetal Brain Female	brain
32	chr2:206054200-206062600	Weak transcription	Right Ventricle	heart
33	chr2:206054200-206062800	Weak transcription	Fetal Stomach	stomach
34	chr2:206054400-206058000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:206054400-206058000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:206055200-206063000	Weak transcription	Fetal Lung	lung
37	chr2:206056200-206061600	Weak transcription	Lung	lung
38	chr2:206056600-206058200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:206056600-206062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:206056600-206064200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:206057200-206059000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:206057400-206058800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:206057600-206062600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:206057800-206058600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:206057800-206059200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:206058000-206058600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:206058000-206058800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:206058000-206058800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:206058000-206058800	Strong transcription	Adipose Nuclei	Adipose
50	chr2:206058000-206058800	Strong transcription	Fetal Intestine Small	intestine

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