Variant report

Variant	nsv821757
Chromosome Location	chr2:153004176-153004655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6747861	chr2:153004214-153004215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112767055	chr2:153004223-153004224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541338118	chr2:153004231-153004232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4664535	chr2:153004253-153004254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116112896	chr2:153004272-153004273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114652032	chr2:153004282-153004283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563735414	chr2:153004291-153004292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529399498	chr2:153004318-153004319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546871203	chr2:153004319-153004320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115437811	chr2:153004346-153004347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565913259	chr2:153004368-153004369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544108870	chr2:153004370-153004371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4664536	chr2:153004385-153004386	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs188182472	chr2:153004411-153004412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113932763	chr2:153004421-153004422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550600693	chr2:153004469-153004470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539199875	chr2:153004496-153004497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555948702	chr2:153004512-153004513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180795314	chr2:153004557-153004558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373122436	chr2:153004578-153004579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78236405	chr2:153004602-153004603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148272022	chr2:153004633-153004634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377557159	chr2:153004642-153004643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571929845	chr2:153004644-153004645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152971200-153008400	Weak transcription	Esophagus	oesophagus
2	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
3	chr2:152974800-153008200	Weak transcription	Fetal Brain Female	brain
4	chr2:152975000-153005400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:152976200-153010200	Weak transcription	Fetal Brain Male	brain
7	chr2:152976200-153013400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:152976400-153005000	Weak transcription	Fetal Heart	heart
9	chr2:152976400-153013400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:152977400-153006200	Weak transcription	HMEC	breast
11	chr2:152978200-153021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:152981800-153024800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:152982400-153013400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:152983800-153013400	Weak transcription	Psoas Muscle	Psoas
15	chr2:152988400-153007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:152991600-153010600	Weak transcription	Gastric	stomach
17	chr2:152991800-153008600	Weak transcription	NHLF	lung
18	chr2:152991800-153018400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:152992000-153008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:152992000-153011600	Weak transcription	Stomach Mucosa	stomach
21	chr2:152992200-153005800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:152993800-153005200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:152995000-153005400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:152995200-153006800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:152995200-153006800	Strong transcription	Liver	Liver
26	chr2:152995400-153004400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:152995400-153004600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:152995800-153004200	Strong transcription	Fetal Intestine Large	intestine
29	chr2:152995800-153005200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:152996000-153004800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:152996000-153004800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:152996200-153013400	Weak transcription	Right Ventricle	heart
33	chr2:152998400-153004600	Strong transcription	Adipose Nuclei	Adipose
34	chr2:152998400-153004600	Strong transcription	Dnd41	blood
35	chr2:152998400-153004800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:152998400-153004800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:152998400-153005000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:152998400-153005200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:152998400-153005400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:152998400-153007400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:152998400-153013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:152998400-153013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:152998600-153004400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:152998600-153004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:152998600-153004800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:152998600-153004800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:152998600-153005200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:152998600-153005400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:152999000-153005200	Strong transcription	Fetal Thymus	thymus
50	chr2:152999200-153005200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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