Variant report

Variant	nsv962041
Chromosome Location	chr2:145465093-145468381
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145463087..145468064-chr2:145468500..145471116,5	K562	blood:
2	chr2:145444859..145446664-chr2:145465647..145467615,2	K562	blood:
3	chr2:145464586..145466817-chr2:145471212..145475328,4	K562	blood:
4	chr2:145455727..145457310-chr2:145465404..145467712,2	K562	blood:
5	chr2:145455727..145457589-chr2:145466212..145468545,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-16	chr2:145456944-145465439	NONHSAT074810

No data

Extended variants
information (count: 101 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538909135	chr2:145465093-145465094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs143904120	chr2:145465149-145465150	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185442427	chr2:145465154-145465155	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs370362718	chr2:145465223-145465224	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs59583134	chr2:145465233-145465234	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs554267090	chr2:145465248-145465249	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61697170	chr2:145465328-145465329	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35476745	chr2:145465371-145465372	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533949012	chr2:145465383-145465384	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs77398787	chr2:145465390-145465391	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs577246862	chr2:145465436-145465437	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569149529	chr2:145465442-145465443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371501090	chr2:145465456-145465457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35130683	chr2:145465552-145465553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36079623	chr2:145465561-145465562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570227139	chr2:145465562-145465563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78947404	chr2:145465564-145465565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10928224	chr2:145465576-145465577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62167598	chr2:145465579-145465580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574362805	chr2:145465595-145465596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542620763	chr2:145465596-145465597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541566929	chr2:145465611-145465612	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559768498	chr2:145465702-145465703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560887327	chr2:145465705-145465706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527900856	chr2:145465740-145465741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139130092	chr2:145465754-145465755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115965616	chr2:145465772-145465773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531959878	chr2:145465796-145465797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs550441405	chr2:145465803-145465804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182403944	chr2:145465958-145465959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539487538	chr2:145466017-145466018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184750923	chr2:145466038-145466039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188345472	chr2:145466047-145466048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180761614	chr2:145466048-145466049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149513130	chr2:145466191-145466192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144097409	chr2:145466199-145466200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570620511	chr2:145466233-145466234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537789620	chr2:145466244-145466245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556380377	chr2:145466247-145466248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574350383	chr2:145466283-145466284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185228522	chr2:145466294-145466295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191562736	chr2:145466298-145466299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571842676	chr2:145466373-145466374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545469138	chr2:145466440-145466441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12479316	chr2:145466463-145466464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531893676	chr2:145466490-145466491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543763660	chr2:145466508-145466509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562381044	chr2:145466525-145466526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139972245	chr2:145466531-145466532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12614679	chr2:145466616-145466617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145450400-145469200	Weak transcription	Aorta	Aorta
2	chr2:145462200-145465400	Weak transcription	NHDF-Ad	bronchial
3	chr2:145463200-145465200	Enhancers	Dnd41	blood
4	chr2:145463200-145469600	Weak transcription	HSMMtube	muscle
5	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:145463400-145465400	Weak transcription	K562	blood
7	chr2:145464400-145469400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:145464600-145465400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:145464600-145468400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:145464600-145473400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:145465000-145465200	Enhancers	HSMM	muscle
12	chr2:145465000-145466200	Enhancers	Fetal Brain Female	brain
13	chr2:145465400-145465600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:145465400-145465600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:145465400-145465600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:145465400-145465600	Enhancers	Brain Hippocampus Middle	brain
17	chr2:145465400-145465600	Enhancers	K562	blood
18	chr2:145465400-145466200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:145465400-145466600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:145465400-145467600	Enhancers	Brain Substantia Nigra	brain
21	chr2:145465400-145468000	Enhancers	NHDF-Ad	bronchial
22	chr2:145465600-145466000	Enhancers	Brain Angular Gyrus	brain
23	chr2:145465600-145466000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr2:145465600-145467000	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:145465600-145467000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:145465600-145467400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:145465600-145468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:145465600-145469600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:145465800-145466000	Enhancers	Brain Anterior Caudate	brain
30	chr2:145465800-145466200	Enhancers	Brain Germinal Matrix	brain
31	chr2:145466000-145466400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:145466000-145466400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:145466000-145467200	Enhancers	Brain Hippocampus Middle	brain
34	chr2:145466000-145467800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:145466600-145467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:145467400-145470800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:145467800-145468000	Enhancers	Brain Anterior Caudate	brain
38	chr2:145467800-145468400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:145468000-145468400	Weak transcription	NHDF-Ad	bronchial
40	chr2:145468000-145469200	Enhancers	Fetal Intestine Small	intestine
41	chr2:145468000-145469400	Weak transcription	Brain Anterior Caudate	brain
42	chr2:145468200-145470800	Enhancers	HUES64 Cell Line	embryonic stem cell

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