Variant report

Variant	nsv584393
Chromosome Location	chr2:213184822-213200920
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	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:

Extended variants
information (count: 729 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12694271	chr2:213184822-213184823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149474834	chr2:213184841-213184842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567933988	chr2:213184842-213184843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188422508	chr2:213184856-213184857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547162366	chr2:213184909-213184910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567029921	chr2:213184923-213184924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539135667	chr2:213184926-213184927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559063192	chr2:213184943-213184944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575722840	chr2:213184950-213184951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139053091	chr2:213184952-213184953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35543088	chr2:213184953-213184954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555292281	chr2:213184956-213184957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs66486948	chr2:213184957-213184958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200757269	chr2:213184964-213184965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557986677	chr2:213184965-213184966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574674212	chr2:213184974-213184975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143031111	chr2:213184981-213184982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181273918	chr2:213185008-213185009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76759243	chr2:213185018-213185019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148180464	chr2:213185039-213185040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34188818	chr2:213185044-213185045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562211323	chr2:213185052-213185053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142368760	chr2:213185054-213185055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35586785	chr2:213185072-213185073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548163611	chr2:213185115-213185116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190278660	chr2:213185118-213185119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530432169	chr2:213185191-213185192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1505364	chr2:213185208-213185209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115035869	chr2:213185211-213185212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141525649	chr2:213185213-213185214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552737782	chr2:213185225-213185226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12616079	chr2:213185233-213185234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11382159	chr2:213185239-213185240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67694045	chr2:213185240-213185241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398105287	chr2:213185250-213185251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373526126	chr2:213185251-213185252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375611574	chr2:213185252-213185253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74400674	chr2:213185253-213185254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10205303	chr2:213185267-213185268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs76917511	chr2:213185275-213185276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534099700	chr2:213185278-213185279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139390182	chr2:213185286-213185287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12622585	chr2:213185325-213185326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181883824	chr2:213185327-213185328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555869003	chr2:213185328-213185329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575722132	chr2:213185330-213185331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187380158	chr2:213185368-213185369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561726667	chr2:213185376-213185377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142587016	chr2:213185380-213185381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369511028	chr2:213185390-213185391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
4	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
5	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
6	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
7	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
8	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
9	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
10	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
12	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:213192000-213192400	Enhancers	A549	lung
15	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
16	chr2:213192000-213193000	Enhancers	HepG2	liver
17	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
18	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
21	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
22	chr2:213193000-213195000	Enhancers	Fetal Lung	lung
23	chr2:213193800-213194600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:213194000-213194600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:213194000-213194800	Enhancers	Brain Anterior Caudate	brain
26	chr2:213194000-213194800	Enhancers	Brain Hippocampus Middle	brain
27	chr2:213194000-213194800	Enhancers	Brain Substantia Nigra	brain
28	chr2:213194200-213195800	Enhancers	Fetal Heart	heart
29	chr2:213194400-213195400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:213194600-213195200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:213194600-213195200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:213194600-213195400	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:213194800-213195000	Enhancers	Brain Angular Gyrus	brain
34	chr2:213194800-213195000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr2:213194800-213195000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:213194800-213195000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr2:213194800-213195000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:213194800-213195200	Enhancers	Adipose Nuclei	Adipose
39	chr2:213194800-213195200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr2:213194800-213195200	Enhancers	Fetal Kidney	kidney
41	chr2:213194800-213195400	Enhancers	Right Ventricle	heart
42	chr2:213194800-213195800	Active TSS	Aorta	Aorta
43	chr2:213195000-213195200	Enhancers	Psoas Muscle	Psoas
44	chr2:213195000-213195400	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr2:213195000-213195600	Enhancers	Brain Anterior Caudate	brain
46	chr2:213195000-213195600	Enhancers	Brain Substantia Nigra	brain
47	chr2:213195200-213195600	Enhancers	Brain Hippocampus Middle	brain
48	chr2:213195200-213195600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:213195400-213195600	Enhancers	Brain Angular Gyrus	brain
50	chr2:213195400-213201400	Weak transcription	Brain Cingulate Gyrus	brain

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