Variant report

Variant	nsv945737
Chromosome Location	chr1:47818194-47830776
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47671072..47673717-chr1:47821797..47823695,2	K562	blood:
2	chr1:47829158..47830973-chr1:47836532..47838912,2	K562	blood:
3	chr1:47798043..47806152-chr1:47810996..47820173,14	K562	blood:
4	chr1:47823657..47826211-chr1:47827367..47829793,2	K562	blood:
5	chr1:47823657..47826211-chr1:47827367..47829793,2	K562	blood:
6	chr1:47813531..47815112-chr1:47820562..47822272,2	K562	blood:
7	chr1:47801557..47803991-chr1:47820386..47821955,2	K562	blood:
8	chr1:47798523..47801833-chr1:47822488..47824105,3	K562	blood:
9	chr1:47798523..47802030-chr1:47822475..47824105,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162368	chromatin interactions

Extended variants
information (count: 491 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200158723	chr1:47818199-47818200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113139935	chr1:47818200-47818201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370534185	chr1:47818201-47818202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11444039	chr1:47818206-47818207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2622925	chr1:47818230-47818231	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs577051212	chr1:47818249-47818250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148125672	chr1:47818271-47818272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6684213	chr1:47818288-47818289	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12132521	chr1:47818324-47818325	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541930673	chr1:47818399-47818400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560180830	chr1:47818438-47818439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2820993	chr1:47818452-47818453	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2622924	chr1:47818463-47818464	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78663709	chr1:47818529-47818530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532026527	chr1:47818593-47818594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200267889	chr1:47818598-47818599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57242072	chr1:47818600-47818601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs397793080	chr1:47818601-47818602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75223346	chr1:47818628-47818629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76022603	chr1:47818630-47818631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550157518	chr1:47818640-47818641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568678849	chr1:47818643-47818644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141887470	chr1:47818660-47818661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188134569	chr1:47818663-47818664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566550781	chr1:47818670-47818671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115243772	chr1:47818671-47818672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558516630	chr1:47818697-47818698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577111865	chr1:47818813-47818814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12749507	chr1:47818917-47818918	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs180978456	chr1:47819014-47819015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536630295	chr1:47819024-47819025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373252302	chr1:47819073-47819074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574309845	chr1:47819092-47819093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557779544	chr1:47819120-47819121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541598499	chr1:47819147-47819148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560243167	chr1:47819220-47819221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147308083	chr1:47819237-47819238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185104956	chr1:47819253-47819254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564506143	chr1:47819255-47819256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531564993	chr1:47819262-47819263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550464255	chr1:47819306-47819307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562339658	chr1:47819373-47819374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529537684	chr1:47819493-47819494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10890477	chr1:47819503-47819504	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566611187	chr1:47819545-47819546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143332094	chr1:47819586-47819587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551940022	chr1:47819589-47819590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570438114	chr1:47819608-47819609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188446205	chr1:47819622-47819623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567266804	chr1:47819703-47819704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
2	chr1:47800600-47834400	Weak transcription	Gastric	stomach
3	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47800800-47819600	Weak transcription	Esophagus	oesophagus
5	chr1:47801000-47819800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:47801000-47834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:47801000-47834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:47801000-47834200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:47801000-47834200	Weak transcription	Thymus	Thymus
10	chr1:47801000-47838200	Weak transcription	NHDF-Ad	bronchial
11	chr1:47801000-47850800	Weak transcription	NHEK	skin
12	chr1:47801200-47821400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:47801200-47823400	Weak transcription	Psoas Muscle	Psoas
14	chr1:47801200-47834000	Weak transcription	HMEC	breast
15	chr1:47801200-47834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:47801200-47834200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:47801200-47834200	Weak transcription	Fetal Brain Female	brain
18	chr1:47801200-47834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:47801200-47834600	Weak transcription	HSMMtube	muscle
20	chr1:47801200-47834600	Weak transcription	NHLF	lung
21	chr1:47801200-47839000	Weak transcription	Right Ventricle	heart
22	chr1:47801400-47834200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:47801800-47834200	Weak transcription	Placenta	Placenta
24	chr1:47802000-47834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:47802200-47834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:47802400-47821800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:47802400-47830400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:47802400-47834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:47802600-47823800	Weak transcription	Left Ventricle	heart
30	chr1:47802600-47834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:47802600-47834200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:47802600-47834200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:47804000-47834000	Weak transcription	Dnd41	blood
34	chr1:47804200-47834200	Weak transcription	HUVEC	blood vessel
35	chr1:47804200-47834800	Weak transcription	Fetal Lung	lung
36	chr1:47805000-47834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:47805000-47834200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:47805600-47830600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:47807200-47834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:47809800-47834200	Weak transcription	Fetal Intestine Large	intestine
41	chr1:47810000-47834200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:47812200-47834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:47812200-47836800	Weak transcription	NH-A	brain
44	chr1:47813000-47823400	Weak transcription	Stomach Mucosa	stomach
45	chr1:47813600-47834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:47813800-47823200	Weak transcription	HepG2	liver
47	chr1:47814000-47834200	Weak transcription	Liver	Liver
48	chr1:47814400-47823200	Weak transcription	Pancreas	Pancrea
49	chr1:47814400-47834200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:47814400-47834200	Weak transcription	Monocytes-CD14+_RO01746	blood

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