Variant report

Variant	esv3346390
Chromosome Location	chr2:78056346-78096156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78066895-78067016	NR_110288

Extended variants
information (count: 1272 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368893128	chr2:78056361-78056362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567905265	chr2:78056366-78056367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181115297	chr2:78056415-78056416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111941519	chr2:78056453-78056454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186764613	chr2:78056476-78056477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190816854	chr2:78056577-78056578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115103023	chr2:78056648-78056649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75785616	chr2:78056650-78056651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113753074	chr2:78056651-78056652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80254531	chr2:78056653-78056654	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77028538	chr2:78056654-78056655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74943228	chr2:78056658-78056659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540097706	chr2:78056676-78056677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200664942	chr2:78056712-78056713	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs59876302	chr2:78056713-78056714	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181561443	chr2:78056720-78056721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186538726	chr2:78056725-78056726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10180985	chr2:78056752-78056753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536036919	chr2:78056761-78056762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138708889	chr2:78056762-78056763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551338349	chr2:78056771-78056772	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10193586	chr2:78056796-78056797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375808399	chr2:78056817-78056818	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs151028047	chr2:78056818-78056819	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370662197	chr2:78056819-78056820	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527775559	chr2:78056830-78056831	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547720707	chr2:78056837-78056838	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140349580	chr2:78056852-78056853	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536954649	chr2:78056873-78056874	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56265221	chr2:78056989-78056990	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570342457	chr2:78056994-78056995	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367824343	chr2:78057018-78057019	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10181267	chr2:78057032-78057033	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374686974	chr2:78057061-78057062	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532296250	chr2:78057078-78057079	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117027203	chr2:78057122-78057123	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540277400	chr2:78057214-78057215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553697413	chr2:78057220-78057221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190922706	chr2:78057221-78057222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561791050	chr2:78057244-78057245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1580483	chr2:78057263-78057264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76786067	chr2:78057285-78057286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11898104	chr2:78057355-78057356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545038751	chr2:78057359-78057360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559650147	chr2:78057383-78057384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182633280	chr2:78057417-78057418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10196574	chr2:78057423-78057424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528109435	chr2:78057431-78057432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547853351	chr2:78057435-78057436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10207594	chr2:78057467-78057468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78050800-78058000	Weak transcription	HepG2	liver
2	chr2:78052400-78058000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:78055400-78057000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78055600-78056600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:78055600-78057600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:78055800-78056600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:78055800-78057600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:78056000-78057000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:78056000-78057000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:78056000-78057200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:78056400-78056600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:78056600-78056800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:78056600-78057200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:78056600-78059800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:78056800-78057200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:78057000-78058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:78057600-78059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:78058000-78058800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:78058000-78059600	Enhancers	HepG2	liver
20	chr2:78058200-78058400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:78058400-78059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:78058800-78059200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:78059200-78059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:78059200-78060600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:78060600-78063200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:78061200-78063200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr2:78061800-78063400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr2:78064800-78066000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:78065400-78066600	Enhancers	HepG2	liver
30	chr2:78065600-78066800	Enhancers	Fetal Intestine Large	intestine
31	chr2:78077000-78078600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:78078800-78079800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:78079800-78080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:78080200-78080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:78080600-78087000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:78083000-78085000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:78083200-78087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:78085000-78085400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr2:78085000-78088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:78087200-78087400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:78087600-78087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:78087800-78089200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:78088600-78089000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:78088600-78089600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:78088600-78089600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:78088800-78089600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:78088800-78089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:78088800-78089600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:78088800-78089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:78089000-78089600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links