Variant report

Variant	nsv820181
Chromosome Location	chr1:59141214-59142601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59132247..59135005-chr1:59138628..59141318,2	K562	blood:
2	chr1:59138508..59141342-chr1:59142732..59146414,3	K562	blood:
3	chr1:59139724..59142589-chr1:59157997..59159875,2	K562	blood:
4	chr1:59134517..59137998-chr1:59142561..59145087,3	K562	blood:
5	chr1:59140685..59142827-chr1:59150748..59153079,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JUN-11	chr1:59142444-59142728	NONHSAT003513

Extended variants
information (count: 45 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536775508	chr1:59141233-59141234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549795162	chr1:59141237-59141238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373662855	chr1:59141281-59141282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17118097	chr1:59141365-59141366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs191088953	chr1:59141394-59141395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142650925	chr1:59141458-59141459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576475957	chr1:59141544-59141545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146895838	chr1:59141574-59141575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139035542	chr1:59141616-59141617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139813347	chr1:59141672-59141673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571148971	chr1:59141678-59141679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537059946	chr1:59141684-59141685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115667126	chr1:59141780-59141781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2406931	chr1:59141818-59141819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116375857	chr1:59141819-59141820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs631352	chr1:59141826-59141827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572627245	chr1:59141853-59141854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541162757	chr1:59141873-59141874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113024337	chr1:59141913-59141914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182847616	chr1:59141980-59141981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143655616	chr1:59141998-59141999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543800463	chr1:59142021-59142022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188368498	chr1:59142044-59142045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369843538	chr1:59142077-59142078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66986748	chr1:59142094-59142095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563211096	chr1:59142122-59142123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529164190	chr1:59142198-59142199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553540	chr1:59142199-59142200	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554318	chr1:59142248-59142249	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528331193	chr1:59142266-59142267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551153060	chr1:59142290-59142291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542660991	chr1:59142321-59142322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536616666	chr1:59142350-59142351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560130827	chr1:59142360-59142361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116787306	chr1:59142382-59142383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567302685	chr1:59142387-59142388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76898383	chr1:59142437-59142438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs41298539	chr1:59142564-59142565	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200635777	chr1:59142565-59142566	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs141885394	chr1:59142574-59142575	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs541619611	chr1:59142579-59142580	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs371330589	chr1:59142580-59142581	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs60967007	chr1:59142584-59142585	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs57950723	chr1:59142589-59142590	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs374342007	chr1:59142591-59142592	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59116000-59151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59117800-59147600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:59118600-59147400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:59119800-59147600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:59120000-59143000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:59120200-59149400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:59121200-59141600	Strong transcription	Primary B cells from cord blood	blood
14	chr1:59121400-59145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:59121600-59141600	Strong transcription	NH-A	brain
17	chr1:59121600-59142200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:59121600-59143000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:59121600-59143000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:59121600-59147400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:59121600-59148400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:59121600-59150000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:59121600-59150000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:59121600-59150600	Strong transcription	Liver	Liver
25	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:59122200-59153400	Weak transcription	Esophagus	oesophagus
28	chr1:59122400-59153200	Weak transcription	Gastric	stomach
29	chr1:59122400-59153200	Weak transcription	Pancreas	Pancrea
30	chr1:59122400-59155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
32	chr1:59122800-59141800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:59123400-59153800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:59123800-59161800	Strong transcription	Dnd41	blood
35	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
36	chr1:59125000-59142800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:59125200-59141800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr1:59125200-59150000	Strong transcription	Fetal Thymus	thymus
40	chr1:59125600-59142000	Strong transcription	Fetal Lung	lung
41	chr1:59125600-59161200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:59126200-59153400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:59126800-59149800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:59128400-59142800	Strong transcription	HepG2	liver
45	chr1:59129200-59142200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:59129200-59142200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:59129200-59142200	Strong transcription	Left Ventricle	heart
48	chr1:59129200-59161000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr1:59130200-59142800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:59130200-59150200	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links