Variant report

Variant	esv1820531
Chromosome Location	chr2:76746272-76786845
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	chr2:76763397..76766096-chr2:76770363..76772214,2	K562	blood:
2	chr2:76763397..76766096-chr2:76770363..76772214,2	K562	blood:

Extended variants
information (count: 667 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:667 , 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	rs1921231	chr2:76746272-76746273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558958095	chr2:76746275-76746276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544303612	chr2:76746337-76746338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562601264	chr2:76746345-76746346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187250179	chr2:76746473-76746474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116307530	chr2:76746480-76746481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566679304	chr2:76746490-76746491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139787399	chr2:76746554-76746555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111990650	chr2:76746583-76746584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11692079	chr2:76746597-76746598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs112170302	chr2:76757455-76757456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187520246	chr2:76757489-76757490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190879469	chr2:76757671-76757672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115394217	chr2:76757678-76757679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142043519	chr2:76757776-76757777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73940536	chr2:76757791-76757792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564231702	chr2:76757794-76757795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183247617	chr2:76757798-76757799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541165881	chr2:76757859-76757860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146347096	chr2:76757910-76757911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186500495	chr2:76757911-76757912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117400655	chr2:76757915-76757916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139612705	chr2:76757946-76757947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142830479	chr2:76757986-76757987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192749186	chr2:76758031-76758032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551550892	chr2:76758071-76758072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566548619	chr2:76758127-76758128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75494811	chr2:76758161-76758162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553545567	chr2:76758164-76758165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13015274	chr2:76758179-76758180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536148641	chr2:76758185-76758186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557329705	chr2:76758234-76758235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73940537	chr2:76758259-76758260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140001176	chr2:76758360-76758361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372870166	chr2:76758427-76758428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545788984	chr2:76758457-76758458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565630134	chr2:76758464-76758465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564274861	chr2:76758506-76758507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10178548	chr2:76758532-76758533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557784476	chr2:76758538-76758539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569830068	chr2:76758568-76758569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149840288	chr2:76758569-76758570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369061083	chr2:76758591-76758592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10178790	chr2:76758659-76758660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555112663	chr2:76758674-76758675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147930297	chr2:76758728-76758729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114628774	chr2:76758737-76758738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141797733	chr2:76758740-76758741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551377740	chr2:76758846-76758847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75085271	chr2:76758847-76758848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76745000-76746600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:76757400-76757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:76757600-76762400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:76762200-76762800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:76762400-76762800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:76762400-76762800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:76762400-76762800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:76762400-76762800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:76762600-76763000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:76771000-76772800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:76771200-76772200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:76771800-76772800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:76771800-76773000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:76771800-76773000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:76772000-76772400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:76772200-76772400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:76772400-76773000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:76775800-76776000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:76776000-76807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:76778000-76780600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:76780600-76781000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:76783000-76783600	Enhancers	Liver	Liver

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