Variant report

Variant	nsv875263
Chromosome Location	chr2:145830053-145892427
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:18)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145884946..145886673-chr2:145889735..145892206,2	K562	blood:
2	chr2:145831836..145834513-chr2:145842893..145844887,2	K562	blood:
3	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:
4	chr2:145838780..145841438-chr2:145864698..145867568,2	K562	blood:
5	chr2:145831278..145834150-chr2:145834537..145836320,2	K562	blood:
6	chr2:145831278..145833894-chr2:145834820..145837755,2	K562	blood:
7	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:
8	chr2:145858333..145861336-chr2:145861757..145865772,4	K562	blood:
9	chr2:145841612..145843612-chr2:145843724..145846206,2	K562	blood:
10	chr2:145838780..145841438-chr2:145864698..145867568,2	K562	blood:
11	chr2:145884946..145886673-chr2:145889735..145892206,2	K562	blood:
12	chr2:145831836..145834513-chr2:145842893..145844887,2	K562	blood:
13	chr2:145831278..145834150-chr2:145834537..145836320,2	K562	blood:
14	chr2:145849978..145851703-chr2:145855992..145857835,2	K562	blood:
15	chr2:145841612..145843612-chr2:145843724..145846206,2	K562	blood:
16	chr2:145831278..145833894-chr2:145834820..145837755,2	K562	blood:
17	chr2:145858333..145861336-chr2:145861757..145865772,4	K562	blood:
18	chr2:145849978..145851703-chr2:145855992..145857835,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
2	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
3	lnc-ARHGAP15-6	chr2:145830091-145834296	ENSG00000226674
4	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
5	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
6	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
7	lnc-ARHGAP15-6	chr2:145830091-145831662	ENSG00000226674
8	lnc-ARHGAP15-6	chr2:145873980-145874077	ENSG00000226674.4
9	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
10	lnc-ARHGAP15-6	chr2:145830091-145830221	ENSG00000226674
11	lnc-ARHGAP15-6	chr2:145830091-145830713	ENSG00000226674.4
12	lnc-ARHGAP15-6	chr2:145830091-145834291	NONHSAT074787
13	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
14	lnc-ARHGAP15-6	chr2:145830091-145830402	NONHSAT074827
15	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
16	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
17	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4

No data

Extended variants
information (count: 2088 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2088 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12476923	chr2:145830053-145830054	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539756285	chr2:145830105-145830106	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs377450735	chr2:145830219-145830220	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558286457	chr2:145830242-145830243	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576558387	chr2:145830315-145830316	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs34029033	chr2:145830328-145830329	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115985042	chr2:145830358-145830359	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs574213875	chr2:145830370-145830371	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs541402056	chr2:145830373-145830374	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559792282	chr2:145830380-145830381	Genic enhancers Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs572257020	chr2:145830400-145830401	Genic enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs147617647	chr2:145830422-145830423	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564444372	chr2:145830429-145830430	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs531387212	chr2:145830478-145830479	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543238590	chr2:145830538-145830539	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs35500812	chr2:145830571-145830572	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs397777104	chr2:145830572-145830573	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs35834661	chr2:145830786-145830787	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561420853	chr2:145830803-145830804	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs182284190	chr2:145830810-145830811	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569919805	chr2:145830849-145830850	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530732724	chr2:145830874-145830875	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs187267562	chr2:145830917-145830918	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs565544696	chr2:145831082-145831083	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532992256	chr2:145831152-145831153	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550121855	chr2:145831162-145831163	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs80251847	chr2:145831173-145831174	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs537620870	chr2:145831221-145831222	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs556012161	chr2:145831249-145831250	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76868621	chr2:145831252-145831253	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs79052724	chr2:145831253-145831254	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs80251109	chr2:145831254-145831255	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs78005876	chr2:145831255-145831256	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs558032754	chr2:145831264-145831265	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs567720977	chr2:145831315-145831316	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs535125200	chr2:145831412-145831413	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs553478245	chr2:145831421-145831422	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs10928241	chr2:145831428-145831429	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545417486	chr2:145831450-145831451	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs576858136	chr2:145831461-145831462	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538707056	chr2:145831480-145831481	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs575951401	chr2:145831534-145831535	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543181297	chr2:145831554-145831555	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs561559103	chr2:145831584-145831585	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs150166553	chr2:145831617-145831618	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540726030	chr2:145831783-145831784	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs541096145	chr2:145831822-145831823	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs532777575	chr2:145831886-145831887	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs138664204	chr2:145831889-145831890	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570226359	chr2:145832011-145832012	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145824200-145830600	Weak transcription	Aorta	Aorta
2	chr2:145827800-145833200	Weak transcription	A549	lung
3	chr2:145828600-145833400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:145829800-145830200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145830200-145830400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:145832800-145833400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:145832800-145833400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:145832800-145834400	Enhancers	Liver	Liver
10	chr2:145833200-145833400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:145833200-145833400	Enhancers	A549	lung
12	chr2:145833200-145833600	Enhancers	Fetal Intestine Large	intestine
13	chr2:145833400-145834400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:145833400-145842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:145834000-145836600	Weak transcription	NHDF-Ad	bronchial
16	chr2:145834400-145834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:145834800-145835000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:145835000-145835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:145835600-145836200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:145836200-145842400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:145836600-145837600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:145836600-145837600	Enhancers	NHDF-Ad	bronchial
23	chr2:145837400-145837600	Enhancers	Fetal Lung	lung
24	chr2:145837600-145841600	Weak transcription	NHDF-Ad	bronchial
25	chr2:145837800-145843200	Weak transcription	Fetal Lung	lung
26	chr2:145841600-145846800	Enhancers	NHDF-Ad	bronchial
27	chr2:145842000-145844200	Enhancers	HSMM	muscle
28	chr2:145842400-145842600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:145842400-145842800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:145842400-145843800	Enhancers	HSMMtube	muscle
31	chr2:145842400-145844400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:145842600-145843000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:145842600-145844200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:145842600-145844600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:145842800-145845200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:145843000-145843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:145843000-145843400	Enhancers	Osteobl	bone
38	chr2:145843000-145843800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:145843000-145843800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:145843200-145843600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:145843200-145843600	Enhancers	Fetal Heart	heart
42	chr2:145843200-145845400	Enhancers	Fetal Lung	lung
43	chr2:145843400-145843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:145843400-145843800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:145843400-145843800	Enhancers	Brain Substantia Nigra	brain
46	chr2:145843400-145846400	Weak transcription	Osteobl	bone
47	chr2:145843600-145844000	Enhancers	Adipose Nuclei	Adipose
48	chr2:145843600-145844800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:145843600-145845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:145843800-145848400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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