Variant report

Variant	esv1823999
Chromosome Location	chr2:96623968-96637870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-1	chr2:96626387-96626412	XLOC_002209
2	lnc-GPAT2-1	chr2:96624339-96624411	XLOC_002209

Variant related genes	Relation type
BACE1	miRNA target sites

Extended variants
information (count: 590 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7594898	chr2:96623968-96623969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191869763	chr2:96623987-96623988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577563281	chr2:96623996-96623997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546407138	chr2:96624002-96624003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563028139	chr2:96624058-96624059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373899718	chr2:96624062-96624063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147734628	chr2:96624074-96624075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548571141	chr2:96624075-96624076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541800617	chr2:96624105-96624106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200140449	chr2:96624108-96624109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529640467	chr2:96624122-96624123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546702565	chr2:96624128-96624129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566226737	chr2:96624130-96624131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189940181	chr2:96624136-96624137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538306363	chr2:96624142-96624143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150964531	chr2:96624165-96624166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201279257	chr2:96624168-96624169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374180498	chr2:96624196-96624197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568684241	chr2:96624212-96624213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201882631	chr2:96624241-96624242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199969561	chr2:96624243-96624244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554553575	chr2:96624252-96624253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533832536	chr2:96624253-96624254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368393585	chr2:96624259-96624260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554284909	chr2:96624276-96624277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577422624	chr2:96624310-96624311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370378313	chr2:96624394-96624395	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374084360	chr2:96624444-96624445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367661808	chr2:96624447-96624448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202191100	chr2:96624466-96624467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371263704	chr2:96624476-96624477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558785949	chr2:96624478-96624479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546270311	chr2:96624514-96624515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200457999	chr2:96624530-96624531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202109018	chr2:96624544-96624545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576674204	chr2:96624556-96624557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201358887	chr2:96624568-96624569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577064031	chr2:96624601-96624602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200047966	chr2:96624608-96624609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200960327	chr2:96624640-96624641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374384125	chr2:96624677-96624678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201266047	chr2:96624725-96624726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201878187	chr2:96624732-96624733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200198996	chr2:96624754-96624755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542545454	chr2:96624766-96624767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200833118	chr2:96624778-96624779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75486278	chr2:96624814-96624815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200524404	chr2:96624834-96624835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562222851	chr2:96624845-96624846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529742240	chr2:96624849-96624850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:96574600-96627600	Weak transcription	HSMM	muscle
7	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
8	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:96578000-96645000	Weak transcription	NH-A	brain
11	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:96584000-96624600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:96585600-96627400	Weak transcription	Left Ventricle	heart
15	chr2:96586000-96657200	Weak transcription	Ovary	ovary
16	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:96588200-96649000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:96589000-96631200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:96589000-96645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:96593600-96645000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:96600800-96625600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:96600800-96645000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:96605400-96644800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:96605600-96655000	Weak transcription	HUVEC	blood vessel
26	chr2:96606000-96635000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:96607400-96644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:96608400-96635000	Weak transcription	Thymus	Thymus
31	chr2:96609000-96625800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:96610600-96645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:96610800-96629000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:96611000-96656600	Weak transcription	Osteobl	bone
35	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:96611600-96625800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:96614400-96655800	Weak transcription	K562	blood
38	chr2:96614600-96627200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:96615000-96627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:96615200-96650000	Weak transcription	Brain Substantia Nigra	brain
41	chr2:96615600-96627200	Weak transcription	Spleen	Spleen
42	chr2:96616400-96627800	Weak transcription	HMEC	breast
43	chr2:96616400-96627800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:96616400-96643200	Weak transcription	Fetal Lung	lung
45	chr2:96616600-96645400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:96617000-96624800	Weak transcription	Dnd41	blood
48	chr2:96617000-96627400	Weak transcription	Fetal Brain Female	brain
49	chr2:96617000-96627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:96617000-96656600	Weak transcription	Fetal Stomach	stomach

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