Variant report

Variant	esv3405729
Chromosome Location	chr1:120625229-120638327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2-3	chr1:120637309-120637563	expReg_chr1_13425_-
2	lnc-FAM72B-4	chr1:120637415-120638073	XLOC_000373

Extended variants
information (count: 502 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587719697	chr1:120625231-120625232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587772625	chr1:120625233-120625234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587676911	chr1:120625270-120625271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201884749	chr1:120625275-120625276	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587711248	chr1:120625352-120625353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587776046	chr1:120625457-120625458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587639320	chr1:120625464-120625465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587714860	chr1:120625525-120625526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374091434	chr1:120625546-120625547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587593755	chr1:120625553-120625554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377639412	chr1:120625554-120625555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587648514	chr1:120625558-120625559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374681656	chr1:120625609-120625610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371211793	chr1:120625610-120625611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59520831	chr1:120625630-120625631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201561202	chr1:120625632-120625633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59763427	chr1:120625635-120625636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371067656	chr1:120625651-120625652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587706375	chr1:120625658-120625659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587607846	chr1:120625659-120625660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587663313	chr1:120625663-120625664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587744763	chr1:120625679-120625680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2604019	chr1:120625682-120625683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587609054	chr1:120625721-120625722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587657817	chr1:120625737-120625738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201968427	chr1:120625743-120625744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58650088	chr1:120625768-120625769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61787475	chr1:120625799-120625800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587745339	chr1:120625809-120625810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28516010	chr1:120625896-120625897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201313046	chr1:120625917-120625918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587614451	chr1:120625932-120625933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114984846	chr1:120625943-120625944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2364168	chr1:120625947-120625948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376161197	chr1:120625954-120625955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587756422	chr1:120626003-120626004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28604342	chr1:120626064-120626065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61787476	chr1:120626070-120626071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587654136	chr1:120626071-120626072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587713123	chr1:120626135-120626136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111339974	chr1:120626143-120626144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587754913	chr1:120626144-120626145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2604017	chr1:120626180-120626181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587636218	chr1:120626208-120626209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587741748	chr1:120626214-120626215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139533500	chr1:120626239-120626240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587689083	chr1:120626253-120626254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587750983	chr1:120626262-120626263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587650835	chr1:120626276-120626277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587708244	chr1:120626285-120626286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Aetanephric adenomas	20802469	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120612400-120627800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:120624200-120625400	Enhancers	Osteobl	bone
3	chr1:120624400-120626400	Weak transcription	Fetal Heart	heart
4	chr1:120624400-120627800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr1:120624400-120627800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:120624400-120628600	Weak transcription	Fetal Lung	lung
7	chr1:120624400-120628800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:120624400-120629400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:120624400-120629400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:120624400-120629600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:120624400-120629600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:120624400-120633000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:120624400-120633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:120624400-120633000	Weak transcription	Placenta	Placenta
15	chr1:120624600-120627800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:120624600-120628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:120624600-120628200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:120624600-120628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:120624600-120628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:120624600-120628400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:120624600-120629200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:120624600-120629200	Weak transcription	Dnd41	blood
23	chr1:120624600-120629400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:120624600-120629400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:120624600-120629400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:120624600-120629400	Weak transcription	HMEC	breast
27	chr1:120624600-120630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:120624600-120630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:120624600-120630600	Weak transcription	NHEK	skin
30	chr1:120624600-120632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:120624600-120633000	Weak transcription	HSMM	muscle
32	chr1:120625200-120625400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:120625200-120627800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:120625400-120625800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:120625400-120632400	Weak transcription	Osteobl	bone
36	chr1:120626800-120627000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:120627800-120628200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:120627800-120629800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:120627800-120629800	Enhancers	Primary B cells from cord blood	blood
40	chr1:120627800-120629800	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr1:120627800-120629800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:120627800-120630000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:120628200-120629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:120628200-120629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:120628200-120630000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:120628200-120630000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:120628400-120629000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:120628400-120629800	Enhancers	Primary T cells from cord blood	blood
49	chr1:120628600-120629200	Enhancers	Fetal Lung	lung
50	chr1:120628800-120629000	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links