Variant report

Variant	nsv547568
Chromosome Location	chr1:114585590-114623867
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:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:114614196..114617663-chr1:114624428..114628635,5	MCF-7	breast:
2	chr1:114596275..114599885-chr1:114602118..114604793,4	MCF-7	breast:
3	chr1:114555472..114558426-chr1:114586301..114588819,2	MCF-7	breast:
4	chr1:114613845..114616518-chr1:114618546..114620521,2	MCF-7	breast:
5	chr1:114587184..114588685-chr1:114594720..114597075,2	MCF-7	breast:
6	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
7	chr1:114623233..114626213-chr1:114628057..114630881,2	MCF-7	breast:
8	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
9	chr1:114621189..114624161-chr1:114624603..114627561,2	MCF-7	breast:
10	chr1:114575470..114578189-chr1:114589215..114591996,2	MCF-7	breast:
11	chr1:114594128..114597061-chr1:114598670..114602014,3	K562	blood:
12	chr1:114623443..114625086-chr1:114646378..114649376,2	MCF-7	breast:
13	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:
14	chr1:114595324..114597061-chr1:114598670..114600429,2	K562	blood:
15	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:
16	chr1:114576348..114577159-chr1:114585475..114586359,3	MCF-7	breast:
17	chr1:114620515..114623507-chr1:114624325..114627250,3	K562	blood:
18	chr1:114622978..114624850-chr1:114631816..114634562,2	K562	blood:
19	chr1:114587184..114588685-chr1:114594720..114597075,2	MCF-7	breast:
20	chr1:114590280..114592785-chr1:114645644..114647854,2	MCF-7	breast:
21	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:
22	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
23	chr1:114615330..114616862-chr1:114667170..114669272,2	MCF-7	breast:
24	chr1:114616645..114618527-chr1:114694033..114695750,2	MCF-7	breast:
25	chr1:114621614..114625641-chr1:114627637..114630642,5	MCF-7	breast:
26	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
27	chr1:114619893..114621772-chr1:114628579..114631100,2	K562	blood:
28	chr1:114202310..114204666-chr1:114619854..114621847,2	K562	blood:
29	chr1:114563454..114565065-chr1:114613996..114616679,2	MCF-7	breast:
30	chr1:114519300..114519841-chr1:114585412..114586240,2	MCF-7	breast:
31	chr1:114576357..114577173-chr1:114585486..114586359,3	MCF-7	breast:
32	chr1:114590926..114593498-chr1:114625359..114627730,2	MCF-7	breast:
33	chr1:114583212..114585104-chr1:114595811..114597428,2	MCF-7	breast:
34	chr1:114619110..114621126-chr1:114623734..114625558,2	MCF-7	breast:
35	chr1:114595497..114597013-chr1:114615849..114618370,2	MCF-7	breast:
36	chr1:114585530..114588046-chr1:114622243..114625192,2	MCF-7	breast:
37	chr1:114619110..114621126-chr1:114623734..114625558,2	MCF-7	breast:
38	chr1:114595497..114597013-chr1:114615849..114618370,2	MCF-7	breast:
39	chr1:114589518..114591108-chr3:138330030..138332781,2	MCF-7	breast:
40	chr1:114585196..114589086-chr1:114619214..114622779,3	MCF-7	breast:
41	chr1:114574403..114579108-chr1:114596233..114599527,4	MCF-7	breast:
42	chr1:114615333..114617366-chr1:114618572..114622103,3	MCF-7	breast:
43	chr1:114596275..114599885-chr1:114602118..114604793,4	MCF-7	breast:
44	chr1:114591094..114593001-chr1:114597614..114600452,2	K562	blood:
45	chr1:114591094..114593001-chr1:114597614..114600452,2	K562	blood:
46	chr1:114575353..114578271-chr1:114615891..114617470,2	MCF-7	breast:
47	chr1:114594128..114597061-chr1:114598670..114602014,3	K562	blood:
48	chr1:114623758..114625854-chr1:114633416..114636156,2	MCF-7	breast:
49	chr1:114595324..114597061-chr1:114598670..114600429,2	K562	blood:
50	chr1:114623682..114625448-chr1:114629138..114631604,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFML3-3	chr1:114606351-114606423	NONHSAT005349

No data

Variant related genes	Relation type
ENSG00000134207	chromatin interactions

Extended variants
information (count: 1444 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1444 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17531753	chr1:114585590-114585591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200892433	chr1:114585591-114585592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567145740	chr1:114585604-114585605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534187556	chr1:114585642-114585643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530864013	chr1:114585646-114585647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551063102	chr1:114585669-114585670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567517694	chr1:114585690-114585691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150420965	chr1:114585713-114585714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552826074	chr1:114585763-114585764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2938338	chr1:114585765-114585766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538435041	chr1:114585790-114585791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370408621	chr1:114585808-114585809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182134311	chr1:114585826-114585827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186809836	chr1:114585903-114585904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12060704	chr1:114585911-114585912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374808964	chr1:114585934-114585935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138198092	chr1:114585952-114585953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574332854	chr1:114585973-114585974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368233921	chr1:114586052-114586053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77949653	chr1:114586074-114586075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181750580	chr1:114586116-114586117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373154213	chr1:114586131-114586132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573627619	chr1:114586196-114586197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537464426	chr1:114586200-114586201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372403331	chr1:114586215-114586216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540297910	chr1:114586256-114586257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185606916	chr1:114586271-114586272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552802428	chr1:114586317-114586318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116153570	chr1:114586373-114586374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369936102	chr1:114586390-114586391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59374067	chr1:114586404-114586405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555824037	chr1:114586457-114586458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372945372	chr1:114586582-114586583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2938317	chr1:114586587-114586588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs546629323	chr1:114586619-114586620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190371623	chr1:114586624-114586625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112852560	chr1:114586655-114586656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377629438	chr1:114586683-114586684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114165925	chr1:114586690-114586691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149623066	chr1:114586703-114586704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541620953	chr1:114586708-114586709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538075220	chr1:114586719-114586720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182136832	chr1:114586736-114586737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574518182	chr1:114586767-114586768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533769925	chr1:114586768-114586769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553756519	chr1:114586780-114586781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576918554	chr1:114586827-114586828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545683008	chr1:114586933-114586934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369077027	chr1:114586942-114586943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187663848	chr1:114586952-114586953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114583000-114590400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:114583800-114590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:114584400-114585600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:114584800-114586000	Enhancers	Fetal Muscle Leg	muscle
5	chr1:114584800-114586800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:114584800-114590600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:114585200-114585800	Enhancers	Spleen	Spleen
8	chr1:114585200-114586400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:114585200-114586600	Enhancers	Fetal Intestine Small	intestine
10	chr1:114585200-114586600	Enhancers	Ovary	ovary
11	chr1:114585400-114585600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:114585400-114587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:114585600-114586600	Enhancers	Fetal Intestine Large	intestine
14	chr1:114585600-114586600	Enhancers	Fetal Lung	lung
15	chr1:114585800-114586600	Enhancers	Fetal Kidney	kidney
16	chr1:114585800-114590400	Weak transcription	Spleen	Spleen
17	chr1:114586000-114586200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:114587200-114587600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:114587400-114587800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:114590200-114591000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr1:114590200-114591000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:114590400-114590600	Enhancers	Spleen	Spleen
23	chr1:114590400-114591000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr1:114590600-114591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:114590600-114592200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:114590600-114592200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:114591000-114593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:114591000-114597600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:114591800-114592400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:114592000-114592200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:114592200-114592400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:114592200-114592800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:114592400-114596800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:114592400-114603600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:114593400-114593600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:114593600-114596400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:114596400-114596600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:114596400-114596600	Enhancers	Liver	Liver
39	chr1:114596400-114596600	Enhancers	Ovary	ovary
40	chr1:114596800-114597200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:114596800-114597200	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
42	chr1:114597000-114597200	ZNF genes & repeats	Fetal Kidney	kidney
43	chr1:114597200-114597400	Enhancers	Ovary	ovary
44	chr1:114597200-114605600	Weak transcription	Fetal Kidney	kidney
45	chr1:114597200-114614600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:114600600-114600800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr1:114601800-114602000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:114602000-114603600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:114602200-114604600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:114603000-114604200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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