Variant report

Variant	nsv2794
Chromosome Location	chr2:78057118-78102218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-8	chr2:78098667-78099271	ucscGeneNc_uc002snu_2
2	lnc-LRRTM4-3	chr2:78102058-78102188	NONHSAT071835
3	lnc-LRRTM4-3	chr2:78102106-78102188	NR_110288
4	lnc-LRRTM4-3	chr2:78066895-78067016	NR_110288

Extended variants
information (count: 1353 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1353 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117027203	chr2:78057122-78057123	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540277400	chr2:78057214-78057215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553697413	chr2:78057220-78057221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190922706	chr2:78057221-78057222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561791050	chr2:78057244-78057245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1580483	chr2:78057263-78057264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76786067	chr2:78057285-78057286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11898104	chr2:78057355-78057356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545038751	chr2:78057359-78057360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559650147	chr2:78057383-78057384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182633280	chr2:78057417-78057418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10196574	chr2:78057423-78057424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528109435	chr2:78057431-78057432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547853351	chr2:78057435-78057436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10207594	chr2:78057467-78057468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187723457	chr2:78057476-78057477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115850067	chr2:78057565-78057566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149367192	chr2:78057592-78057593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539340301	chr2:78057668-78057669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143679661	chr2:78057684-78057685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116276109	chr2:78057728-78057729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533669298	chr2:78057733-78057734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530511974	chr2:78057740-78057741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553800657	chr2:78057753-78057754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191196634	chr2:78057776-78057777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550663654	chr2:78057777-78057778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368031824	chr2:78057778-78057779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554506595	chr2:78057785-78057786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79641511	chr2:78057805-78057806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555928209	chr2:78057813-78057814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183459959	chr2:78057845-78057846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186979463	chr2:78057864-78057865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565145362	chr2:78057884-78057885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572370263	chr2:78057890-78057891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192247643	chr2:78057911-78057912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559362961	chr2:78057928-78057929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530210404	chr2:78057932-78057933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148086716	chr2:78057955-78057956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563828449	chr2:78057981-78057982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532866765	chr2:78058098-78058099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10187241	chr2:78058136-78058137	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144127352	chr2:78058165-78058166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147321238	chr2:78058226-78058227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547059658	chr2:78058256-78058257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184270177	chr2:78058315-78058316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78590725	chr2:78058321-78058322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574037875	chr2:78058332-78058333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140985255	chr2:78058344-78058345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57951718	chr2:78058353-78058354	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558788033	chr2:78058362-78058363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	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:58 , 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	chr2:78055600-78057600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:78055800-78057600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:78056000-78057200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:78056600-78057200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:78056600-78059800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:78056800-78057200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:78057000-78058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:78057600-78059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:78058000-78058800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:78058000-78059600	Enhancers	HepG2	liver
13	chr2:78058200-78058400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:78058400-78059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:78058800-78059200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:78059200-78059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:78059200-78060600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:78060600-78063200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:78061200-78063200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr2:78061800-78063400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr2:78064800-78066000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:78065400-78066600	Enhancers	HepG2	liver
23	chr2:78065600-78066800	Enhancers	Fetal Intestine Large	intestine
24	chr2:78077000-78078600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:78078800-78079800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:78079800-78080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:78080200-78080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:78080600-78087000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:78083000-78085000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:78083200-78087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:78085000-78085400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr2:78085000-78088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:78087200-78087400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:78087600-78087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:78087800-78089200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:78088600-78089000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:78088600-78089600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:78088600-78089600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:78088800-78089600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:78088800-78089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:78088800-78089600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:78088800-78089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:78089000-78089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:78089200-78089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:78089400-78089600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:78089600-78091000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:78089600-78091200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:78089600-78091200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:78089600-78093800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:78091000-78091400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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