Variant report

Variant	nsv428774
Chromosome Location	chr1:76971045-77075766
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:3)
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	chr1:77056837..77059200-chr1:77061368..77063126,2	K562	blood:
2	chr1:76871350..76874295-chr1:76994896..76997570,2	K562	blood:
3	chr1:77056837..77059200-chr1:77061368..77063126,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGK-4	chr1:76996397-76996441	NONHSAT004013
2	lnc-PIGK-4	chr1:77017263-77017540	NONHSAT004013
3	lnc-PIGK-4	chr1:76996553-76996677	NONHSAT004013

No data

Extended variants
information (count: 3051 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3051 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544273751	chr1:76971107-76971108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534140719	chr1:76971116-76971117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371638618	chr1:76971126-76971127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529707076	chr1:76971130-76971131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567163675	chr1:76971180-76971181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560723074	chr1:76971182-76971183	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112124398	chr1:76971191-76971192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61773271	chr1:76971198-76971199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74089983	chr1:76971232-76971233	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74089985	chr1:76971244-76971245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567734548	chr1:76971246-76971247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74089986	chr1:76971255-76971256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72678079	chr1:76971292-76971293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74089989	chr1:76971298-76971299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554445582	chr1:76971303-76971304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12730219	chr1:76971320-76971321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566616770	chr1:76971373-76971374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61773272	chr1:76971397-76971398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386632566	chr1:76971527-76971528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544019137	chr1:76971529-76971530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112634644	chr1:76971530-76971531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556292093	chr1:76971531-76971532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574915131	chr1:76971548-76971549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566422108	chr1:76971549-76971550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184679152	chr1:76971552-76971553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541804874	chr1:76971569-76971570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35260316	chr1:76971641-76971642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560780576	chr1:76971642-76971643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527947901	chr1:76971709-76971710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11340708	chr1:76971736-76971737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546451291	chr1:76971782-76971783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112365684	chr1:76971830-76971831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531923023	chr1:76971839-76971840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192418059	chr1:76971886-76971887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568167243	chr1:76971887-76971888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148846628	chr1:76971896-76971897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs315095	chr1:76971928-76971929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566043842	chr1:76971992-76971993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571769272	chr1:76972000-76972001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184269349	chr1:76972003-76972004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112219145	chr1:76972058-76972059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75816856	chr1:76972078-76972079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570604530	chr1:76972086-76972087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143480433	chr1:76972119-76972120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189372223	chr1:76972157-76972158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181855185	chr1:76972162-76972163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541866378	chr1:76972199-76972200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60652575	chr1:76972239-76972240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137930953	chr1:76972279-76972280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562746639	chr1:76972289-76972290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76966600-76971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:76967200-76977000	Weak transcription	Fetal Stomach	stomach
3	chr1:76967200-76977400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:76967400-76976800	Weak transcription	Fetal Kidney	kidney
5	chr1:76968200-76976600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:76969600-76974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:76969600-76974800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:76969600-76976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:76969600-76976800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:76969600-76977000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:76969600-76977000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:76969600-76981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:76969800-76973800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:76970000-76973800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:76970000-76976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:76970200-76974000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:76970400-76974600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:76970600-76971200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:76970600-76981800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:76971200-76972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:76971600-76976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:76972000-76976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:76973800-76974200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:76973800-76974200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:76973800-76974400	Enhancers	Left Ventricle	heart
26	chr1:76974000-76974400	Enhancers	Aorta	Aorta
27	chr1:76974000-76976000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:76974200-76974600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:76974200-76976800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:76974200-76976800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:76974400-76980200	Weak transcription	Left Ventricle	heart
32	chr1:76974600-76975000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:76974600-76976600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:76974800-76975000	Enhancers	Fetal Lung	lung
35	chr1:76974800-76975600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:76974800-76977800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:76975000-76976400	Weak transcription	Fetal Lung	lung
38	chr1:76975400-76976000	Enhancers	Psoas Muscle	Psoas
39	chr1:76975600-76976800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:76975800-76976200	Enhancers	Fetal Heart	heart
41	chr1:76976000-76976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:76976000-76977000	Weak transcription	Psoas Muscle	Psoas
43	chr1:76976200-76977000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:76976200-76977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:76976400-76977000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:76976400-76977200	Enhancers	Fetal Lung	lung
47	chr1:76976400-76977400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:76976600-76977000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:76976600-76977400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:76976600-76977600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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