Variant report

Variant	nsv1004846
Chromosome Location	chr2:145852801-145919056
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:9)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145858333..145861336-chr2:145861757..145865772,4	K562	blood:
2	chr2:145910565..145913077-chr2:145916998..145918613,2	K562	blood:
3	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:
4	chr2:145884946..145886673-chr2:145889735..145892206,2	K562	blood:
5	chr2:145849978..145851703-chr2:145855992..145857835,2	K562	blood:
6	chr2:145884946..145886673-chr2:145889735..145892206,2	K562	blood:
7	chr2:145838780..145841438-chr2:145864698..145867568,2	K562	blood:
8	chr2:145910565..145913077-chr2:145916998..145918613,2	K562	blood:
9	chr2:145858333..145861336-chr2:145861757..145865772,4	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
2	lnc-ARHGAP15-6	chr2:145909038-145909708	ENSG00000226674.4
3	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
4	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
5	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
6	lnc-ARHGAP15-6	chr2:145873980-145874077	ENSG00000226674.4
7	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
8	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
9	lnc-ARHGAP15-6	chr2:145870788-145871010	ENSG00000226674.4
10	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
11	lnc-ARHGAP15-6	chr2:145909038-145910069	ENSG00000226674.4
12	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4
13	lnc-ARHGAP15-6	chr2:145875123-145875220	ENSG00000226674.4

No data

Extended variants
information (count: 2158 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2158 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16824481	chr2:145852801-145852802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148835591	chr2:145852920-145852921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536082537	chr2:145852951-145852952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545246466	chr2:145852952-145852953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs787428	chr2:145852959-145852960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs143496572	chr2:145852975-145852976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs787429	chr2:145852985-145852986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557051635	chr2:145853045-145853046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576406944	chr2:145853063-145853064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147596210	chr2:145853067-145853068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142522057	chr2:145853095-145853096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574273440	chr2:145853148-145853149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541647562	chr2:145853153-145853154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559784698	chr2:145853251-145853252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183575610	chr2:145853252-145853253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188015278	chr2:145853286-145853287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146799575	chr2:145853300-145853301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181263784	chr2:145853307-145853308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544070557	chr2:145853338-145853339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150499530	chr2:145853424-145853425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139318459	chr2:145853461-145853462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373436537	chr2:145853486-145853487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529474374	chr2:145853499-145853500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573856907	chr2:145853502-145853503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143318824	chr2:145853516-145853517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560744189	chr2:145853599-145853600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566132389	chr2:145853607-145853608	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533462644	chr2:145853622-145853623	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551625390	chr2:145853671-145853672	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150391807	chr2:145853750-145853751	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183809779	chr2:145853794-145853795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556396891	chr2:145853853-145853854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568033003	chr2:145853884-145853885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs70985888	chr2:145853886-145853887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs68088326	chr2:145853903-145853904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs16824484	chr2:145853955-145853956	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561468190	chr2:145854026-145854027	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190268482	chr2:145854062-145854063	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571949262	chr2:145854063-145854064	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78928384	chr2:145854068-145854069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181691061	chr2:145854127-145854128	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373125355	chr2:145854148-145854149	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13428809	chr2:145854150-145854151	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149573996	chr2:145854190-145854191	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562366593	chr2:145854212-145854213	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187655609	chr2:145854237-145854238	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373996224	chr2:145854327-145854328	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368155318	chr2:145854441-145854442	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541793044	chr2:145854444-145854445	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144273707	chr2:145854474-145854475	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	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:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145846800-145853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:145849800-145853600	Weak transcription	A549	lung
4	chr2:145850000-145853200	Weak transcription	NHLF	lung
5	chr2:145850000-145858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:145850200-145853400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:145850200-145853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:145850200-145853400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:145850200-145853400	Weak transcription	HMEC	breast
10	chr2:145850600-145853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:145851000-145854000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:145851200-145854200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:145851600-145853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:145852000-145854800	Enhancers	HSMM	muscle
15	chr2:145852200-145854600	Enhancers	NH-A	brain
16	chr2:145852200-145854800	Enhancers	Osteobl	bone
17	chr2:145852200-145855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:145852200-145855400	Enhancers	NHDF-Ad	bronchial
19	chr2:145852600-145854800	Enhancers	HSMMtube	muscle
20	chr2:145852800-145856600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:145853200-145854600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:145853200-145855000	Enhancers	NHLF	lung
23	chr2:145853400-145853600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:145853400-145854600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:145853400-145854600	Enhancers	Dnd41	blood
26	chr2:145853400-145854800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:145853400-145854800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:145853400-145854800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:145853400-145854800	Enhancers	HMEC	breast
30	chr2:145853600-145853800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:145853600-145853800	Enhancers	A549	lung
32	chr2:145853600-145854000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:145853800-145854000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:145854000-145854200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:145854000-145854600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:145854000-145854600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:145854200-145855000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:145854200-145856000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:145854600-145854800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:145854600-145854800	Enhancers	Stomach Mucosa	stomach
41	chr2:145854600-145863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:145854600-145868000	Weak transcription	NH-A	brain
43	chr2:145854800-145856600	Weak transcription	Osteobl	bone
44	chr2:145854800-145856800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:145854800-145857600	Weak transcription	HMEC	breast
46	chr2:145854800-145868400	Weak transcription	HSMMtube	muscle
47	chr2:145855000-145856400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:145856000-145857200	Enhancers	Fetal Lung	lung
49	chr2:145856000-145859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:145856400-145857000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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