Variant report

Variant	nsv1012683
Chromosome Location	chr1:62587852-62643998
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:62640856..62641941-chr1:62872775..62873607,4	MCF-7	breast:
2	chr1:62641108..62641785-chr1:62872814..62873759,3	K562	blood:
3	chr1:62548126..62548791-chr1:62596911..62597437,2	MCF-7	breast:
4	chr1:62640932..62641855-chr1:62872570..62873690,7	MCF-7	breast:
5	chr1:62548148..62549052-chr1:62609619..62610149,3	K562	blood:
6	chr1:62641022..62641912-chr1:63211839..63212852,4	K562	blood:
7	chr1:62641185..62641957-chr9:140067717..140068217,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INADL-3	chr1:62633088-62633800	NONHSAT003626
2	lnc-INADL-3	chr1:62634103-62634240	NONHSAT003626

No data

Extended variants
information (count: 2467 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2467 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145428434	chr1:62587865-62587866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562648931	chr1:62587893-62587894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372520119	chr1:62587951-62587952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181550472	chr1:62587974-62587975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186028249	chr1:62587987-62587988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58555932	chr1:62588057-62588058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573887755	chr1:62588061-62588062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553527221	chr1:62588169-62588170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371182918	chr1:62588179-62588180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112688077	chr1:62588187-62588188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547485285	chr1:62588225-62588226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533130667	chr1:62588235-62588236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189949992	chr1:62588286-62588287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199925154	chr1:62588335-62588336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575209225	chr1:62588349-62588350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200747275	chr1:62588353-62588354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12405496	chr1:62588357-62588358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564176214	chr1:62588358-62588359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60381716	chr1:62588370-62588371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541015482	chr1:62588472-62588473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367957104	chr1:62588496-62588497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559452800	chr1:62588511-62588512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529858458	chr1:62588520-62588521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372059314	chr1:62588630-62588631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200289873	chr1:62588672-62588673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563350001	chr1:62588676-62588677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374175653	chr1:62588683-62588684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200412855	chr1:62588693-62588694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182536641	chr1:62588747-62588748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552191300	chr1:62588771-62588772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201495021	chr1:62588775-62588776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546673610	chr1:62588782-62588783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535275313	chr1:62588784-62588785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77615193	chr1:62588798-62588799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568603021	chr1:62588803-62588804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140577144	chr1:62588826-62588827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186570053	chr1:62588856-62588857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575320220	chr1:62588862-62588863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539587489	chr1:62588894-62588895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557727023	chr1:62589002-62589003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111375479	chr1:62589022-62589023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573159379	chr1:62589028-62589029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542709422	chr1:62589057-62589058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145699137	chr1:62589063-62589064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138171443	chr1:62589101-62589102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201116139	chr1:62589141-62589142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34621846	chr1:62589142-62589143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112697898	chr1:62589165-62589166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397765137	chr1:62589167-62589168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2476192	chr1:62589196-62589197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:62545400-62606800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62548200-62594000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:62550200-62607800	Weak transcription	Right Ventricle	heart
7	chr1:62551800-62594200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:62551800-62614000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:62553200-62594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:62554200-62614000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:62555000-62589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:62555000-62594200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:62556000-62594200	Weak transcription	Left Ventricle	heart
14	chr1:62563600-62617400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:62566000-62593600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:62566200-62594400	Weak transcription	Aorta	Aorta
17	chr1:62566200-62603400	Weak transcription	Esophagus	oesophagus
18	chr1:62566200-62604400	Weak transcription	Lung	lung
19	chr1:62566200-62614000	Weak transcription	Adipose Nuclei	Adipose
20	chr1:62566800-62608000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:62567200-62594200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:62569800-62594400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:62570000-62594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:62570200-62607800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:62575200-62608000	Weak transcription	Fetal Kidney	kidney
26	chr1:62576600-62593800	Weak transcription	Ovary	ovary
27	chr1:62576600-62594200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:62576600-62596800	Weak transcription	Fetal Stomach	stomach
29	chr1:62576600-62618000	Weak transcription	Psoas Muscle	Psoas
30	chr1:62576800-62607800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:62580000-62589800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:62580000-62594400	Weak transcription	Gastric	stomach
33	chr1:62580000-62611600	Weak transcription	Pancreas	Pancrea
34	chr1:62580200-62617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:62580400-62588000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:62580600-62594400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:62582200-62588000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:62582400-62594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:62582600-62594600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:62583000-62593600	Weak transcription	Liver	Liver
41	chr1:62584000-62594200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:62584200-62594000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:62584400-62594600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:62584600-62603400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:62584600-62607800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:62584800-62593600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:62586600-62588600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:62586800-62589000	Enhancers	NHEK	skin
49	chr1:62587000-62588600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:62587200-62589800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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