Variant report

Variant	nsv581747
Chromosome Location	chr2:46709571-46718989
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46693283..46695227-chr2:46712341..46714395,2	K562	blood:
2	chr2:46714508..46716993-chr2:46724518..46727090,2	K562	blood:
3	chr2:46713674..46717376-chr2:46717590..46719594,3	K562	blood:
4	chr2:46712457..46718126-chr2:46724421..46727428,6	K562	blood:
5	chr2:46710065..46711846-chr2:46725513..46727572,2	MCF-7	breast:
6	chr2:46713674..46716471-chr2:46717649..46719594,2	K562	blood:
7	chr2:46709342..46712080-chr2:46908104..46909816,2	K562	blood:
8	chr2:46715260..46716783-chr2:46718663..46721578,2	MCF-7	breast:
9	chr2:46713674..46716471-chr2:46717649..46719594,2	K562	blood:
10	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:
11	chr2:46716484..46718309-chr2:46842742..46845548,2	K562	blood:
12	chr2:46713674..46717376-chr2:46717590..46719594,3	K562	blood:
13	chr2:46710349..46713099-chr2:46769270..46771905,2	MCF-7	breast:
14	chr2:46715260..46716783-chr2:46718663..46721578,2	MCF-7	breast:
15	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1E2-5	chr2:46717889-46717970	NONHSAT070501

No data

Variant related genes	Relation type
ENSG00000253515	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000151665	chromatin interactions

Extended variants
information (count: 429 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2121698	chr2:46709571-46709572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370123777	chr2:46709572-46709573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539045007	chr2:46709582-46709583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73929737	chr2:46709602-46709603	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182269675	chr2:46709603-46709604	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs2121697	chr2:46709607-46709608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs145988036	chr2:46709632-46709633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs565846428	chr2:46709642-46709643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs536590190	chr2:46709643-46709644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs574908723	chr2:46709650-46709651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540737251	chr2:46709669-46709670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs11888926	chr2:46709686-46709687	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113234168	chr2:46709717-46709718	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs532567621	chr2:46709718-46709719	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs201552240	chr2:46709836-46709837	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs189246532	chr2:46709870-46709871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs552601967	chr2:46709872-46709873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs562811208	chr2:46709873-46709874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs562937397	chr2:46709877-46709878	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs530459500	chr2:46709884-46709885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs138609118	chr2:46709931-46709932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs193009487	chr2:46710014-46710015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs533711028	chr2:46710051-46710052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs374574363	chr2:46710065-46710066	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148871064	chr2:46710116-46710117	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570453362	chr2:46710131-46710132	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143523240	chr2:46710164-46710165	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115195454	chr2:46710165-46710166	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs17035166	chr2:46710168-46710169	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538171118	chr2:46710172-46710173	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs17035171	chr2:46710188-46710189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs60496170	chr2:46710202-46710203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114782665	chr2:46710208-46710209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375821513	chr2:46710210-46710211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs58267234	chr2:46710234-46710235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs111266519	chr2:46710270-46710271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374330512	chr2:46710291-46710292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546278363	chr2:46710296-46710297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562872150	chr2:46710303-46710304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77182748	chr2:46710313-46710314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117553858	chr2:46710344-46710345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561816074	chr2:46710360-46710361	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs185332582	chr2:46710394-46710395	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs7562332	chr2:46710405-46710406	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs570587701	chr2:46710411-46710412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs532869143	chr2:46710415-46710416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555478170	chr2:46710417-46710418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs76224375	chr2:46710432-46710433	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555140423	chr2:46710451-46710452	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs7588586	chr2:46710455-46710456	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
2	chr2:46700200-46714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:46705000-46716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46707400-46710000	Enhancers	Hela-S3	cervix
5	chr2:46707800-46709600	Enhancers	HUVEC	blood vessel
6	chr2:46708000-46709600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:46708000-46710000	Enhancers	NHLF	lung
8	chr2:46708200-46709600	Enhancers	Osteobl	bone
9	chr2:46708400-46714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:46708400-46714800	Weak transcription	Lung	lung
11	chr2:46708600-46709600	Enhancers	A549	lung
12	chr2:46708600-46710400	Enhancers	GM12878-XiMat	blood
13	chr2:46709000-46713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:46709200-46714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:46709200-46714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:46709400-46709600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:46709400-46714600	Weak transcription	NHDF-Ad	bronchial
18	chr2:46709600-46709800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:46709600-46710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:46709600-46710200	Bivalent Enhancer	HepG2	liver
21	chr2:46709600-46714600	Weak transcription	HUVEC	blood vessel
22	chr2:46709600-46714600	Weak transcription	Osteobl	bone
23	chr2:46709600-46715000	Weak transcription	A549	lung
24	chr2:46710000-46713600	Weak transcription	Hela-S3	cervix
25	chr2:46710000-46714600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:46710000-46714600	Weak transcription	NHLF	lung
27	chr2:46710400-46710800	Enhancers	Left Ventricle	heart
28	chr2:46710600-46710800	Enhancers	Right Ventricle	heart
29	chr2:46710800-46712200	Weak transcription	Left Ventricle	heart
30	chr2:46710800-46714800	Weak transcription	Right Ventricle	heart
31	chr2:46711800-46713200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:46712000-46712400	Enhancers	Psoas Muscle	Psoas
33	chr2:46712000-46714000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:46712200-46712600	Enhancers	Left Ventricle	heart
35	chr2:46712400-46712800	Weak transcription	Psoas Muscle	Psoas
36	chr2:46712600-46714600	Weak transcription	Left Ventricle	heart
37	chr2:46712800-46713000	Enhancers	Psoas Muscle	Psoas
38	chr2:46713000-46714400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:46713000-46714600	Weak transcription	Psoas Muscle	Psoas
40	chr2:46713200-46714600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:46713600-46717600	Enhancers	Hela-S3	cervix
42	chr2:46713800-46714000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:46713800-46714000	Enhancers	Colon Smooth Muscle	Colon
44	chr2:46713800-46714400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:46713800-46718800	Enhancers	Spleen	Spleen
46	chr2:46714000-46714400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:46714000-46714600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:46714000-46714800	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:46714000-46714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:46714400-46714800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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