Variant report

Variant	nsv584372
Chromosome Location	chr2:213176634-213191821
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:
2	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:

Extended variants
information (count: 693 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10932433	chr2:213176634-213176635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554118903	chr2:213176642-213176643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543597588	chr2:213176643-213176644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558696707	chr2:213176666-213176667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563467336	chr2:213176683-213176684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529341333	chr2:213176697-213176698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72947344	chr2:213176711-213176712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559330271	chr2:213176734-213176735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528427263	chr2:213176769-213176770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551675875	chr2:213176800-213176801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189086766	chr2:213176801-213176802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572390217	chr2:213176804-213176805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539893876	chr2:213176805-213176806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537278804	chr2:213176814-213176815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78252118	chr2:213176825-213176826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567410328	chr2:213176863-213176864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192387738	chr2:213176886-213176887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184883903	chr2:213176966-213176967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10208528	chr2:213176982-213176983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190740846	chr2:213176997-213176998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558460715	chr2:213177001-213177002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111953204	chr2:213177046-213177047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543658412	chr2:213177071-213177072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180802064	chr2:213177097-213177098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573857079	chr2:213177125-213177126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542717150	chr2:213177127-213177128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559560949	chr2:213177132-213177133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528503030	chr2:213177182-213177183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556044992	chr2:213177197-213177198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6721859	chr2:213177231-213177232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77947825	chr2:213177266-213177267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142177733	chr2:213177273-213177274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186143881	chr2:213177324-213177325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189457028	chr2:213177337-213177338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536422499	chr2:213177350-213177351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181371244	chr2:213177454-213177455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78754312	chr2:213177526-213177527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10932434	chr2:213177628-213177629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185696426	chr2:213177666-213177667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578226910	chr2:213177685-213177686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146715085	chr2:213177727-213177728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190453367	chr2:213177732-213177733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573919025	chr2:213177753-213177754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541395389	chr2:213177793-213177794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12475215	chr2:213177817-213177818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376416197	chr2:213177818-213177819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545425437	chr2:213177819-213177820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2221461	chr2:213177839-213177840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545851332	chr2:213177857-213177858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544538393	chr2:213177950-213177951	Weak transcription	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213175400-213180200	Weak transcription	Fetal Heart	heart
3	chr2:213176400-213177000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:213180200-213183200	Enhancers	Fetal Heart	heart
5	chr2:213180800-213181200	Enhancers	Brain Substantia Nigra	brain
6	chr2:213180800-213181400	Enhancers	Aorta	Aorta
7	chr2:213181000-213181200	Enhancers	Psoas Muscle	Psoas
8	chr2:213181000-213181400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:213181000-213181400	Enhancers	Pancreas	Pancrea
10	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
11	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
12	chr2:213184400-213185400	Enhancers	Fetal Kidney	kidney
13	chr2:213184400-213185600	Enhancers	Fetal Lung	lung
14	chr2:213185400-213186600	Weak transcription	Fetal Kidney	kidney
15	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
16	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
17	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
18	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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