Variant report

Variant	esv1804767
Chromosome Location	chr2:40601179-40615520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:117909379..117910083-chr2:40612320..40613217,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-5	chr2:40599056-40601579	NONHSAT070280

Variant related genes	Relation type
ENSG00000198162	chromatin interactions

Extended variants
information (count: 745 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs981739	chr2:40601179-40601180	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548480091	chr2:40601215-40601216	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566674787	chr2:40601218-40601219	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs534125508	chr2:40601239-40601240	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12997740	chr2:40601347-40601348	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187641418	chr2:40601383-40601384	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs570911452	chr2:40601420-40601421	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs375028640	chr2:40601448-40601449	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs537983921	chr2:40601453-40601454	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368400049	chr2:40601457-40601458	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs192532519	chr2:40601460-40601461	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140127397	chr2:40601461-40601462	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs183462260	chr2:40601487-40601488	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554105212	chr2:40601570-40601571	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs75329128	chr2:40601592-40601593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574300347	chr2:40601597-40601598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546003595	chr2:40601617-40601618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149882248	chr2:40601676-40601677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531405420	chr2:40601695-40601696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543165961	chr2:40601786-40601787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561681628	chr2:40601813-40601814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79525933	chr2:40601826-40601827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547040097	chr2:40601840-40601841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188052230	chr2:40601888-40601889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528013835	chr2:40601898-40601899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552333069	chr2:40601934-40601935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570980545	chr2:40601967-40601968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567667273	chr2:40601973-40601974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79899125	chr2:40601989-40601990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79111164	chr2:40601991-40601992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185011900	chr2:40601993-40601994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535840252	chr2:40602041-40602042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12999388	chr2:40602049-40602050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572348432	chr2:40602053-40602054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189890531	chr2:40602093-40602094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72939995	chr2:40602139-40602140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142064985	chr2:40602154-40602155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576165144	chr2:40602155-40602156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543455730	chr2:40602196-40602197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75610050	chr2:40602208-40602209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78957480	chr2:40602217-40602218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540611784	chr2:40602235-40602236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567376328	chr2:40602266-40602267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559439775	chr2:40602314-40602315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80052395	chr2:40602365-40602366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550140545	chr2:40602373-40602374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115223819	chr2:40602377-40602378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552611349	chr2:40602389-40602390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147077049	chr2:40602394-40602395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531815127	chr2:40602422-40602423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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 prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
2	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40593400-40607000	Weak transcription	Dnd41	blood
4	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain
5	chr2:40595000-40611000	Weak transcription	Right Ventricle	heart
6	chr2:40596000-40601600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:40596400-40601200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:40596400-40601400	Enhancers	Osteobl	bone
9	chr2:40597000-40601200	Enhancers	HSMMtube	muscle
10	chr2:40597000-40603400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:40597200-40601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:40598200-40601200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:40598400-40606600	Weak transcription	Aorta	Aorta
14	chr2:40598600-40601200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:40599200-40608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:40599200-40609000	Weak transcription	Left Ventricle	heart
17	chr2:40600000-40601800	Weak transcription	Fetal Kidney	kidney
18	chr2:40600000-40605200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:40600400-40601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40600400-40606600	Weak transcription	HSMM	muscle
21	chr2:40600600-40602200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:40600800-40601200	Flanking Active TSS	Fetal Heart	heart
23	chr2:40600800-40601200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:40600800-40601400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:40600800-40601400	Enhancers	Psoas Muscle	Psoas
26	chr2:40600800-40609000	Weak transcription	NHDF-Ad	bronchial
27	chr2:40601000-40603800	Weak transcription	Fetal Stomach	stomach
28	chr2:40601000-40605800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:40601200-40602200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:40601200-40603400	Enhancers	Fetal Heart	heart
32	chr2:40601400-40606600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:40601400-40606600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:40601600-40602000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:40601800-40602400	Enhancers	Fetal Kidney	kidney
36	chr2:40602000-40602600	Enhancers	Colon Smooth Muscle	Colon
37	chr2:40602200-40602400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:40602200-40603400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:40602600-40607200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:40603400-40605600	Genic enhancers	Fetal Heart	heart
41	chr2:40603400-40605800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:40605200-40606200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:40605400-40605800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:40605600-40606600	Weak transcription	Fetal Heart	heart
45	chr2:40605800-40606200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:40605800-40606600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:40606200-40608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:40606600-40606800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:40606600-40607200	Strong transcription	HSMM	muscle
50	chr2:40606600-40607800	Enhancers	Fetal Heart	heart

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