Variant report

Variant	nsv1003010
Chromosome Location	chr2:78145703-78219800
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:9)
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	chr2:78215424..78217099-chr2:78219299..78221415,2	K562	blood:
2	chr2:78150104..78151070-chr7:109526792..109527641,2	MCF-7	breast:
3	chr2:78215424..78217099-chr2:78219299..78221415,2	K562	blood:
4	chr1:111007522..111008367-chr2:78191655..78192229,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-8	chr2:78208133-78208440	NONHSAT071839
2	lnc-REG3G-8	chr2:78192534-78192764	NONHSAT071839
3	lnc-LRRTM4-2	chr2:78176532-78176551	XLOC_002173
4	lnc-REG3G-8	chr2:78169364-78169425	NONHSAT071839
5	lnc-LRRTM4-2	chr2:78178164-78178621	XLOC_002173
6	lnc-REG3G-8	chr2:78187674-78187885	NONHSAT071839
7	lnc-LRRTM4-3	chr2:78214578-78215904	NONHSAT071835
8	lnc-REG3G-8	chr2:78174151-78174300	NONHSAT071839
9	lnc-REG3G-8	chr2:78175271-78175410	NONHSAT071839

No data

Variant related genes	Relation type
CELF2	miRNA target sites

Extended variants
information (count: 893 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2116978	chr2:78151829-78151830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149424365	chr2:78151833-78151834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562402554	chr2:78151845-78151846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11891114	chr2:78151849-78151850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548711308	chr2:78151867-78151868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148564798	chr2:78151871-78151872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571234483	chr2:78151873-78151874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142909599	chr2:78151882-78151883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115008046	chr2:78151903-78151904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114680364	chr2:78151912-78151913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117460815	chr2:78151919-78151920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367621699	chr2:78151920-78151921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78238968	chr2:78151980-78151981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150380337	chr2:78152623-78152624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145062149	chr2:78152635-78152636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575038899	chr2:78152655-78152656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149086454	chr2:78152665-78152666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190532212	chr2:78152676-78152677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117840830	chr2:78152697-78152698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148921430	chr2:78152712-78152713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374062582	chr2:78152715-78152716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376054217	chr2:78152716-78152717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200836680	chr2:78152717-78152718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564593643	chr2:78152725-78152726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73941634	chr2:78152757-78152758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540860377	chr2:78152780-78152781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180911166	chr2:78152789-78152790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143108957	chr2:78152792-78152793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552683013	chr2:78157015-78157016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115818835	chr2:78157016-78157017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577576081	chr2:78157072-78157073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1433206	chr2:78157135-78157136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560241117	chr2:78157160-78157161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376088043	chr2:78157178-78157179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542672601	chr2:78157199-78157200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562363668	chr2:78157265-78157266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564382850	chr2:78157326-78157327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115218010	chr2:78157339-78157340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116746384	chr2:78157388-78157389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563801566	chr2:78159007-78159008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532638536	chr2:78159019-78159020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552674547	chr2:78159043-78159044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs28803840	chr2:78159053-78159054	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12618214	chr2:78159076-78159077	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548641397	chr2:78159077-78159078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs560463794	chr2:78159078-78159079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs193008208	chr2:78159104-78159105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184713613	chr2:78159136-78159137	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75624123	chr2:78159164-78159165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77987309	chr2:78159165-78159166	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78151800-78152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:78152600-78152800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:78157000-78157400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:78159000-78159400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:78159400-78160400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:78160400-78161200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:78192800-78193200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:78193200-78195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:78194800-78195200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:78194800-78195200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:78195000-78195200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:78195200-78195600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:78195200-78200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:78195600-78195800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:78195800-78199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:78199200-78201800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:78199600-78200200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:78199800-78200000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:78200000-78200400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:78200000-78200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:78200200-78200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:78200200-78201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:78200400-78200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:78200400-78201400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:78200600-78201000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:78200600-78201800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:78200800-78201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:78200800-78201600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:78201200-78201400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:78201200-78201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:78201400-78201800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:78201400-78202000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:78201400-78204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:78204600-78205000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links