Variant report

Variant	nsv528863
Chromosome Location	chr2:210088080-210114896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4672549	chr2:210096031-210096032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537311082	chr2:210096035-210096036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550844944	chr2:210096051-210096052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565560275	chr2:210096093-210096094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567645081	chr2:210096156-210096157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371077588	chr2:210096157-210096158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552975779	chr2:210096169-210096170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140938457	chr2:210096177-210096178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114668929	chr2:210096184-210096185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181606097	chr2:210096204-210096205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184562121	chr2:210096209-210096210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561146191	chr2:210096237-210096238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574716907	chr2:210096252-210096253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542614233	chr2:210096285-210096286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559699492	chr2:210096330-210096331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117852282	chr2:210096369-210096370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530313359	chr2:210096430-210096431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188529723	chr2:210096431-210096432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6757269	chr2:210096534-210096535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530984642	chr2:210096555-210096556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566942729	chr2:210096557-210096558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550806410	chr2:210096606-210096607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567857229	chr2:210096626-210096627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147832631	chr2:210096705-210096706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6760272	chr2:210096706-210096707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185224506	chr2:210096723-210096724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566487383	chr2:210096724-210096725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538322906	chr2:210096730-210096731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6745027	chr2:210096744-210096745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs386654653	chr2:210096779-210096780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10932290	chr2:210096785-210096786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs55732044	chr2:210096836-210096837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551190964	chr2:210096853-210096854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574598499	chr2:210096887-210096888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55689700	chr2:210096893-210096894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553056178	chr2:210096981-210096982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573172957	chr2:210096998-210096999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545026261	chr2:210097006-210097007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374835875	chr2:210097012-210097013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191163206	chr2:210097040-210097041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530953674	chr2:210097051-210097052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74375241	chr2:210097078-210097079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74392029	chr2:210097079-210097080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530303192	chr2:210097104-210097105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547288184	chr2:210097108-210097109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567085955	chr2:210097114-210097115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368866611	chr2:210097208-210097209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552250405	chr2:210097225-210097226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4516360	chr2:210097348-210097349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4450535	chr2:210097349-210097350	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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210096000-210096800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:210096000-210096800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:210096200-210096800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:210096200-210096800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:210096200-210096800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:210096800-210100800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:210096800-210101000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:210096800-210101000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:210096800-210101200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:210100800-210101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:210101000-210101400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:210101000-210101600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:210101000-210101600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:210101200-210101600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:210101400-210101600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:210101400-210102600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:210101600-210102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:210102600-210102800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:210102600-210102800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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