Variant report

Variant	nsv962519
Chromosome Location	chr2:206239854-206250466
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	chr2:206248394..206251086-chr2:206251822..206254377,2	MCF-7	breast:

Extended variants
information (count: 312 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373305296	chr2:206239897-206239898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555117984	chr2:206239915-206239916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117285565	chr2:206239961-206239962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534263875	chr2:206240007-206240008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10202921	chr2:206240048-206240049	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181223667	chr2:206240056-206240057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149918873	chr2:206240120-206240121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562754864	chr2:206240133-206240134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529633932	chr2:206240135-206240136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145028662	chr2:206240138-206240139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548507578	chr2:206240140-206240141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186921632	chr2:206240189-206240190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560462903	chr2:206240217-206240218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527409779	chr2:206240246-206240247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568384461	chr2:206240340-206240341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190610774	chr2:206240387-206240388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111836292	chr2:206240410-206240411	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112575933	chr2:206240412-206240413	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371332801	chr2:206240430-206240431	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551016195	chr2:206240484-206240485	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569540483	chr2:206240527-206240528	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536930278	chr2:206240684-206240685	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556274493	chr2:206240714-206240715	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111339693	chr2:206240803-206240804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183593545	chr2:206240807-206240808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534331297	chr2:206240812-206240813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6712196	chr2:206240826-206240827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186292199	chr2:206240837-206240838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374866152	chr2:206240858-206240859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556197067	chr2:206240936-206240937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368082923	chr2:206240937-206240938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574422937	chr2:206240949-206240950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541697726	chr2:206240971-206240972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559960031	chr2:206240980-206240981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189884943	chr2:206240984-206240985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545585902	chr2:206240986-206240987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570628174	chr2:206241029-206241030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149107706	chr2:206241034-206241035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531226302	chr2:206241045-206241046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549783283	chr2:206241056-206241057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143199564	chr2:206241070-206241071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377677532	chr2:206241090-206241091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530466381	chr2:206241103-206241104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144032037	chr2:206241117-206241118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370525706	chr2:206241124-206241125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548890724	chr2:206241151-206241152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79490674	chr2:206241161-206241162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76060154	chr2:206241162-206241163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567079044	chr2:206241170-206241171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546288368	chr2:206241197-206241198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206237200-206240000	Weak transcription	NHDF-Ad	bronchial
3	chr2:206240000-206240400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:206240000-206240400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:206240000-206241000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:206240000-206241200	Enhancers	NHDF-Ad	bronchial
7	chr2:206240200-206240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:206240400-206240800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:206240400-206240800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:206240400-206241200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:206240400-206243000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:206240800-206241200	Enhancers	Fetal Muscle Leg	muscle
13	chr2:206240800-206241400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:206240800-206241400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:206241000-206242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:206241200-206242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:206242600-206243200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:206242800-206243400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:206243000-206243400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:206246600-206247200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:206247200-206248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:206248200-206249400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:206248400-206249000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:206248600-206248800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:206248800-206249000	Enhancers	NHDF-Ad	bronchial
26	chr2:206249000-206250200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:206249000-206250800	Weak transcription	NHDF-Ad	bronchial
28	chr2:206249400-206252400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:206250200-206252200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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