Variant report

Variant	nsv961312
Chromosome Location	chr2:39810592-39817719
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:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:39817615..39819162-chr2:39833488..39835291,2	K562	blood:
2	chr2:39663393..39666071-chr2:39815774..39818204,2	MCF-7	breast:
3	chr2:39814359..39816548-chr2:39821046..39822836,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-1	chr2:39811721-39812102	NONHSAT070251
2	lnc-TMEM178-1	chr2:39815589-39815707	ENSG00000231312.2
3	lnc-THUMPD2-1	chr2:39815589-39815701	NONHSAT070253
4	lnc-TMEM178-1	chr2:39815589-39815707	ENSG00000231312.2
5	lnc-TMEM178-1	chr2:39811745-39811950	ENSG00000231312.2
6	lnc-TMEM178-1	chr2:39814156-39814174	ENSG00000231312.2
7	lnc-TMEM178-1	chr2:39811745-39811788	ENSG00000231312.2

No data

Variant related genes	Relation type
ENSG00000011566	chromatin interactions
ENSG00000231312	chromatin interactions

Extended variants
information (count: 370 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74720395	chr2:39810599-39810600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552682091	chr2:39810607-39810608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577899783	chr2:39810623-39810624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544952341	chr2:39810633-39810634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563569821	chr2:39810655-39810656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575111136	chr2:39810663-39810664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148722542	chr2:39810668-39810669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561850202	chr2:39810708-39810709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367758137	chr2:39810724-39810725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114279798	chr2:39810745-39810746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547811330	chr2:39810751-39810752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141449390	chr2:39810855-39810856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554883347	chr2:39810856-39810857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370400632	chr2:39810883-39810884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570024467	chr2:39810895-39810896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190029710	chr2:39810928-39810929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4992380	chr2:39810943-39810944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs531140407	chr2:39810965-39810966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549594513	chr2:39810982-39810983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550592597	chr2:39811001-39811002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534403199	chr2:39811027-39811028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146327433	chr2:39811043-39811044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139638111	chr2:39811060-39811061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116815038	chr2:39811061-39811062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558546977	chr2:39811081-39811082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6744562	chr2:39811116-39811117	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113545744	chr2:39811117-39811118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575149492	chr2:39811120-39811121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542461139	chr2:39811154-39811155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181312564	chr2:39811173-39811174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574113309	chr2:39811220-39811221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541146479	chr2:39811233-39811234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375816416	chr2:39811234-39811235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533190688	chr2:39811306-39811307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537305851	chr2:39811321-39811322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541146087	chr2:39811339-39811340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552886545	chr2:39811344-39811345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186604406	chr2:39811364-39811365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564015248	chr2:39811374-39811375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191969649	chr2:39811411-39811412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62139372	chr2:39811443-39811444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531218749	chr2:39811475-39811476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144097080	chr2:39811482-39811483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567835613	chr2:39811529-39811530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146499232	chr2:39811533-39811534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139601928	chr2:39811534-39811535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149746672	chr2:39811552-39811553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538257964	chr2:39811564-39811565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143062168	chr2:39811565-39811566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556536260	chr2:39811580-39811581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39799000-39810600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:39799400-39811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:39799600-39820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:39808400-39815200	Weak transcription	HepG2	liver
5	chr2:39808400-39819000	Weak transcription	Liver	Liver
6	chr2:39809400-39821000	Weak transcription	Psoas Muscle	Psoas
7	chr2:39810200-39812000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39810200-39812400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:39810600-39812800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:39810800-39811800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:39810800-39812000	Enhancers	Fetal Kidney	kidney
12	chr2:39810800-39812200	Enhancers	HSMMtube	muscle
13	chr2:39810800-39812400	Enhancers	HSMM	muscle
14	chr2:39810800-39812600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:39811000-39811200	Enhancers	Left Ventricle	heart
16	chr2:39811000-39811600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:39811000-39812200	Enhancers	NHLF	lung
18	chr2:39811000-39812400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:39811000-39812600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:39811000-39812600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:39811200-39812600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:39811200-39820600	Weak transcription	Left Ventricle	heart
23	chr2:39811400-39811600	Enhancers	Brain Angular Gyrus	brain
24	chr2:39811400-39811800	Enhancers	Brain Anterior Caudate	brain
25	chr2:39811400-39812000	Enhancers	NH-A	brain
26	chr2:39811400-39812200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:39811400-39812400	Enhancers	HMEC	breast
28	chr2:39811400-39812400	Enhancers	Osteobl	bone
29	chr2:39811400-39812600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:39811400-39812600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:39811600-39811800	Enhancers	A549	lung
32	chr2:39811600-39812000	Enhancers	Fetal Lung	lung
33	chr2:39811600-39812000	Enhancers	NHDF-Ad	bronchial
34	chr2:39811600-39812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:39811600-39812400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:39811600-39812400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:39811600-39812600	Enhancers	Adipose Nuclei	Adipose
38	chr2:39811600-39812600	Enhancers	NHEK	skin
39	chr2:39811600-39821000	Weak transcription	Brain Angular Gyrus	brain
40	chr2:39811800-39812000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:39811800-39812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:39811800-39812600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:39811800-39812600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:39811800-39812800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:39811800-39820800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:39812000-39821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:39812200-39812400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:39812200-39812400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:39812200-39821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:39812400-39812600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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