Variant report

Variant	nsv433299
Chromosome Location	chr2:212157104-212161004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149981818	chr2:212158625-212158626	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs145208691	chr2:212158651-212158652	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7557116	chr2:212158670-212158671	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541822636	chr2:212158682-212158683	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs73079662	chr2:212158693-212158694	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs535693327	chr2:212158712-212158713	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs572096230	chr2:212158750-212158751	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184066172	chr2:212158786-212158787	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs564399007	chr2:212158812-212158813	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs533184978	chr2:212158818-212158819	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs142351552	chr2:212158868-212158869	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs186870406	chr2:212158869-212158870	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs17692625	chr2:212158902-212158903	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs146897015	chr2:212158905-212158906	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs139355137	chr2:212158989-212158990	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs370151897	chr2:212159014-212159015	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs551530227	chr2:212159043-212159044	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs571239359	chr2:212159061-212159062	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs546490925	chr2:212159070-212159071	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs4673607	chr2:212159106-212159107	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75013124	chr2:212159131-212159132	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs76052417	chr2:212159133-212159134	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs534235182	chr2:212159149-212159150	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs142507878	chr2:212159153-212159154	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs377747662	chr2:212159156-212159157	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556434835	chr2:212159211-212159212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369087025	chr2:212159215-212159216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570337084	chr2:212159252-212159253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77732238	chr2:212159279-212159280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555635358	chr2:212159293-212159294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199560544	chr2:212159324-212159325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572134397	chr2:212159325-212159326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77826460	chr2:212159464-212159465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191406683	chr2:212159489-212159490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184218589	chr2:212159538-212159539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141711978	chr2:212159546-212159547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371277302	chr2:212159586-212159587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542153913	chr2:212159636-212159637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529093739	chr2:212159646-212159647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542990853	chr2:212159669-212159670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143786574	chr2:212159729-212159730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10209471	chr2:212159787-212159788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs551061319	chr2:212159794-212159795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571322341	chr2:212159847-212159848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530480413	chr2:212159852-212159853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74935901	chr2:212159920-212159921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554002189	chr2:212159951-212159952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527492595	chr2:212159952-212159953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190815829	chr2:212159985-212159986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60214494	chr2:212160007-212160008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212158600-212159200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:212158800-212159800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:212159000-212159600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:212159000-212159600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:212159000-212159600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:212159000-212160200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:212159200-212159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:212159400-212160000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:212159600-212166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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