Variant report

Variant	esv3348751
Chromosome Location	chr2:78888346-78929149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78898994..78900712-chr2:79206429..79207134,5	MCF-7	breast:
2	chr2:78900014..78900765-chr2:80114542..80115485,2	K562	blood:
3	chr2:78899834..78900793-chr2:79088429..79089440,4	MCF-7	breast:
4	chr1:91853012..91853572-chr2:78928953..78929458,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-6	chr2:78928684-78929025	NONHSAT071853
2	lnc-REG3G-6	chr2:78913797-78913805	NONHSAT071853
3	lnc-REG3G-6	chr2:78918402-78918413	NONHSAT071853

No data

Extended variants
information (count: 226 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145859371	chr2:78900205-78900206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562715523	chr2:78900211-78900212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541761708	chr2:78900238-78900239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35893246	chr2:78900256-78900257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397871399	chr2:78900266-78900267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6716040	chr2:78900269-78900270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371868356	chr2:78900288-78900289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376208057	chr2:78900345-78900346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551746803	chr2:78900355-78900356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148992633	chr2:78900357-78900358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143763879	chr2:78900376-78900377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57428381	chr2:78900377-78900378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180995815	chr2:78900391-78900392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187469911	chr2:78901852-78901853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568841271	chr2:78901881-78901882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560776980	chr2:78901915-78901916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191471936	chr2:78902028-78902029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550986237	chr2:78902045-78902046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570877910	chr2:78902112-78902113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs118051002	chr2:78902119-78902120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538390974	chr2:78902140-78902141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553605718	chr2:78902157-78902158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182843441	chr2:78902186-78902187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs207461921	chr2:78902221-78902222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536049149	chr2:78902224-78902225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556654137	chr2:78902236-78902237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188169670	chr2:78902245-78902246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59174671	chr2:78902252-78902253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192228257	chr2:78902255-78902256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572423599	chr2:78902291-78902292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541792764	chr2:78902294-78902295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561411658	chr2:78902401-78902402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575009232	chr2:78902437-78902438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543630903	chr2:78902439-78902440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563879851	chr2:78902443-78902444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531322510	chr2:78902494-78902495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551024875	chr2:78902499-78902500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546729545	chr2:78902511-78902512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527288522	chr2:78902532-78902533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1272308	chr2:78902571-78902572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184296879	chr2:78902575-78902576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567433912	chr2:78902587-78902588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536476055	chr2:78902635-78902636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115212044	chr2:78902672-78902673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138086167	chr2:78902727-78902728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539137754	chr2:78902779-78902780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149524219	chr2:78902881-78902882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144048695	chr2:78902963-78902964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565046921	chr2:78903021-78903022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376697377	chr2:78903083-78903084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78900200-78900400	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:78901800-78903000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:78903000-78904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:78903400-78903800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:78903600-78904200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:78903800-78904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:78904000-78904400	Enhancers	HepG2	liver
8	chr2:78904000-78904600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:78904000-78904800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:78904200-78904800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:78904200-78905800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:78904400-78904800	Flanking Active TSS	HepG2	liver
13	chr2:78904800-78905200	Enhancers	HepG2	liver
14	chr2:78909800-78910000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:78922600-78922800	Enhancers	Spleen	Spleen
16	chr2:78926800-78927600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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