Variant report

Variant	nsv829153
Chromosome Location	chr2:46694295-46697296
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46694377..46696235-chr2:46839785..46842336,2	MCF-7	breast:
2	chr2:46693043..46695866-chr2:46768148..46769721,2	MCF-7	breast:
3	chr2:46693342..46696123-chr5:77522105..77524620,2	K562	blood:
4	chr2:46691531..46694095-chr2:46695293..46698690,3	K562	blood:
5	chr2:46688831..46694095-chr2:46695879..46699021,6	K562	blood:
6	chr2:46683036..46684677-chr2:46693619..46695195,2	K562	blood:
7	chr2:46694609..46697439-chr2:46813750..46815810,2	MCF-7	breast:
8	chr2:46693283..46695227-chr2:46712341..46714395,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018682.6.1-1	chr2:46696141-46696182	NONHSAT070485

No data

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

Extended variants
information (count: 158 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566981844	chr2:46694301-46694302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188178367	chr2:46694304-46694305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114806197	chr2:46694337-46694338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192469329	chr2:46694364-46694365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183757524	chr2:46694447-46694448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189647007	chr2:46694459-46694460	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538197002	chr2:46694460-46694461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374770179	chr2:46694488-46694489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs578231002	chr2:46694501-46694502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543987784	chr2:46694543-46694544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35728605	chr2:46694566-46694567	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149098791	chr2:46694573-46694574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540960596	chr2:46694647-46694648	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181778561	chr2:46694654-46694655	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs542703886	chr2:46694680-46694681	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs72873778	chr2:46694689-46694690	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528410708	chr2:46694691-46694692	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs72873781	chr2:46694697-46694698	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571161599	chr2:46694708-46694709	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs530626590	chr2:46694715-46694716	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142176894	chr2:46694793-46694794	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567067776	chr2:46694824-46694825	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184561972	chr2:46694825-46694826	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546309771	chr2:46694846-46694847	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs146715152	chr2:46694861-46694862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs551709092	chr2:46694881-46694882	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs578233974	chr2:46694906-46694907	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs140332230	chr2:46694933-46694934	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs145375067	chr2:46694938-46694939	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs116312304	chr2:46694941-46694942	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113325960	chr2:46694967-46694968	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs137934528	chr2:46694974-46694975	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574078438	chr2:46695004-46695005	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547755430	chr2:46695005-46695006	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs140744786	chr2:46695010-46695011	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs572446069	chr2:46695017-46695018	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573193183	chr2:46695018-46695019	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189843469	chr2:46695034-46695035	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs181468846	chr2:46695052-46695053	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs72873783	chr2:46695061-46695062	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186470365	chr2:46695067-46695068	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs72618631	chr2:46695099-46695100	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370299018	chr2:46695121-46695122	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376874278	chr2:46695126-46695127	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs150077194	chr2:46695140-46695141	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs576279801	chr2:46695143-46695144	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs529813864	chr2:46695150-46695151	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs546700233	chr2:46695170-46695171	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566401104	chr2:46695175-46695176	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs538639536	chr2:46695176-46695177	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46686400-46704400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:46689000-46696800	Weak transcription	K562	blood
3	chr2:46689200-46696600	Weak transcription	Fetal Thymus	thymus
4	chr2:46689200-46698600	Weak transcription	Hela-S3	cervix
5	chr2:46689200-46704800	Weak transcription	Placenta	Placenta
6	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
7	chr2:46689800-46697000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:46689800-46697400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:46690000-46696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:46691600-46696800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:46691800-46695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:46691800-46696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:46691800-46696400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:46691800-46696400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:46691800-46696800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:46692000-46696800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:46692000-46702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:46695800-46696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:46695800-46697400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:46695800-46697400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:46696000-46696800	Enhancers	HMEC	breast
22	chr2:46696000-46696800	Enhancers	NHEK	skin
23	chr2:46696200-46696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:46696400-46696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:46696400-46696800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:46696400-46696800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:46696400-46698600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:46696600-46697800	Enhancers	Fetal Thymus	thymus
29	chr2:46696800-46697400	Enhancers	Adipose Nuclei	Adipose
30	chr2:46696800-46697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:46696800-46697600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:46696800-46697800	Enhancers	K562	blood
33	chr2:46696800-46698200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:46696800-46698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:46697000-46697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:46697200-46697600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:46697200-46697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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