Variant report

Variant	nsv961926
Chromosome Location	chr2:208920553-208924250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:208921872-208922310	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:208924234-208924371	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:208922080-208922340	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:208922093-208922324	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZBTB33	chr2:208922040-208922384	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNA5SP116	TF binding region
ENSG00000224839	TF binding region

Extended variants
information (count: 146 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550059160	chr2:208920557-208920558	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs77376172	chr2:208920632-208920633	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs535413473	chr2:208920658-208920659	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs367816120	chr2:208920673-208920674	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs371719039	chr2:208920854-208920855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371468586	chr2:208920896-208920897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187619441	chr2:208920897-208920898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376470498	chr2:208921038-208921039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528298926	chr2:208921046-208921047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565802697	chr2:208921087-208921088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192602100	chr2:208921127-208921128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558378731	chr2:208921231-208921232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17641035	chr2:208921257-208921258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537360355	chr2:208921271-208921272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557187263	chr2:208921360-208921361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573722556	chr2:208921361-208921362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562083581	chr2:208921423-208921424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542580762	chr2:208921454-208921455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544432238	chr2:208921534-208921535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573330403	chr2:208921538-208921539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545161617	chr2:208921539-208921540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372012546	chr2:208921561-208921562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532936529	chr2:208921569-208921570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538914123	chr2:208921587-208921588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78268370	chr2:208921588-208921589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58135597	chr2:208921602-208921603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376592715	chr2:208921668-208921669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60654512	chr2:208921684-208921685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550119997	chr2:208921708-208921709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199948047	chr2:208921774-208921775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184792764	chr2:208921783-208921784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150142544	chr2:208921788-208921789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549027683	chr2:208921801-208921802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565536552	chr2:208921805-208921806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190172530	chr2:208921823-208921824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181870430	chr2:208921865-208921866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571817415	chr2:208921883-208921884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537222710	chr2:208921903-208921904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs73983677	chr2:208921905-208921906	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs60755294	chr2:208921912-208921913	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201505937	chr2:208921913-208921914	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs74577733	chr2:208921915-208921916	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553369994	chr2:208921916-208921917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs73983678	chr2:208921932-208921933	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545485200	chr2:208921946-208921947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565204870	chr2:208921947-208921948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577927345	chr2:208921970-208921971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs543676251	chr2:208921992-208921993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138558627	chr2:208922000-208922001	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184862377	chr2:208922071-208922072	Weak transcription	TF binding region	1 gene(s)	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
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
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
Hodgkin''s lymphoma	17606441	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:208919800-208920800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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