Variant report

Variant	nsv461817
Chromosome Location	chr1:70880717-70887183
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70886970..70888577-chr1:70891879..70893523,2	K562	blood:
2	chr1:70883854..70886042-chr1:70886893..70888962,2	K562	blood:
3	chr1:70881141..70883419-chr1:70894353..70896787,2	K562	blood:
4	chr1:70880695..70883325-chr1:70886922..70888578,2	K562	blood:
5	chr1:70880695..70883325-chr1:70886922..70888578,2	K562	blood:
6	chr1:70878824..70881393-chr1:70902317..70904279,2	MCF-7	breast:
7	chr1:70881885..70883677-chr1:70886826..70889376,3	K562	blood:
8	chr1:70883854..70885367-chr1:70886893..70889267,2	K562	blood:
9	chr1:70877825..70880614-chr1:70884736..70887414,2	K562	blood:
10	chr1:70883854..70885367-chr1:70886893..70889267,2	K562	blood:
11	chr1:70883854..70886042-chr1:70886893..70888962,2	K562	blood:
12	chr1:70819400..70821929-chr1:70880348..70882771,2	K562	blood:
13	chr1:70819400..70822032-chr1:70880139..70881848,2	K562	blood:
14	chr1:70881885..70883677-chr1:70886826..70889376,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197568	chromatin interactions
ENSG00000118454	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs681475	chr1:70880717-70880718	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs115228206	chr1:70880718-70880719	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540569281	chr1:70880723-70880724	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147889380	chr1:70880732-70880733	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141537367	chr1:70880750-70880751	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183436677	chr1:70880780-70880781	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562189139	chr1:70880790-70880791	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531056906	chr1:70880792-70880793	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544361646	chr1:70880837-70880838	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564738945	chr1:70880848-70880849	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs116280325	chr1:70880871-70880872	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547271964	chr1:70880895-70880896	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530056256	chr1:70880918-70880919	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186211203	chr1:70880993-70880994	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528872652	chr1:70881004-70881005	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530596935	chr1:70881036-70881037	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150439037	chr1:70881102-70881103	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12037405	chr1:70881147-70881148	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs537986814	chr1:70881188-70881189	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376752130	chr1:70881211-70881212	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557565675	chr1:70881229-70881230	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35864483	chr1:70881230-70881231	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs481654	chr1:70881252-70881253	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs36032119	chr1:70881339-70881340	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189741742	chr1:70881348-70881349	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546579885	chr1:70881358-70881359	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35441160	chr1:70881384-70881385	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs111692112	chr1:70881394-70881395	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575698072	chr1:70881399-70881400	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544736120	chr1:70881411-70881412	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564376770	chr1:70881419-70881420	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs578128999	chr1:70881425-70881426	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567961795	chr1:70881439-70881440	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs41313347	chr1:70881586-70881587	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs367684926	chr1:70881604-70881605	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560433311	chr1:70881616-70881617	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76279261	chr1:70881621-70881622	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201184202	chr1:70881622-70881623	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs28941785	chr1:70881670-70881671	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367566583	chr1:70881697-70881698	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373472854	chr1:70881719-70881720	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200239026	chr1:70881764-70881765	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182047358	chr1:70881778-70881779	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531162993	chr1:70881789-70881790	Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188062697	chr1:70881805-70881806	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs571222721	chr1:70881816-70881817	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534015869	chr1:70881837-70881838	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192843511	chr1:70881842-70881843	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567455247	chr1:70881858-70881859	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs501939	chr1:70881913-70881914	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:103)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	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

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70877400-70898600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:70877400-70900600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:70877400-70900600	Weak transcription	Lung	lung
4	chr1:70877400-70901800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:70877400-70903400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:70877400-70906400	Weak transcription	Small Intestine	intestine
7	chr1:70877400-70906600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:70877600-70891000	Weak transcription	Left Ventricle	heart
9	chr1:70877600-70892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:70877800-70882000	Weak transcription	Fetal Stomach	stomach
11	chr1:70877800-70907800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:70878000-70899000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:70878000-70903400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:70878000-70908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:70878200-70882400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:70878200-70882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:70878200-70885000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:70878200-70891000	Weak transcription	Aorta	Aorta
19	chr1:70878200-70899200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:70878200-70907000	Weak transcription	Psoas Muscle	Psoas
21	chr1:70878200-70909600	Weak transcription	Gastric	stomach
22	chr1:70878400-70883600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:70878400-70885600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:70878400-70891000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:70878400-70895400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:70878400-70896600	Weak transcription	Adipose Nuclei	Adipose
27	chr1:70878400-70897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:70878400-70897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:70878400-70897800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:70878400-70899200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:70878400-70901800	Weak transcription	Colonic Mucosa	Colon
32	chr1:70878400-70907000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:70878600-70882000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:70878600-70883400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:70878600-70883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:70878600-70883800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:70878600-70884000	Weak transcription	Osteobl	bone
38	chr1:70878600-70891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:70878600-70891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:70878600-70892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:70878600-70894600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:70878600-70896600	Weak transcription	Fetal Lung	lung
43	chr1:70878600-70902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:70878600-70903800	Weak transcription	HSMMtube	muscle
45	chr1:70878600-70906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:70878800-70881200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:70878800-70881400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:70878800-70882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:70878800-70883000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:70878800-70883200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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