Variant report

Variant	nsv441757
Chromosome Location	chr2:46696098-46697684
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	chr2:46694377..46696235-chr2:46839785..46842336,2	MCF-7	breast:
2	chr2:46694609..46697439-chr2:46813750..46815810,2	MCF-7	breast:
3	chr2:46688831..46694095-chr2:46695879..46699021,6	K562	blood:
4	chr2:46693342..46696123-chr5:77522105..77524620,2	K562	blood:
5	chr2:46691531..46694095-chr2:46695293..46698690,3	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

Extended variants
information (count: 92 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368450438	chr2:46696101-46696102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143190197	chr2:46696103-46696104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554859250	chr2:46696104-46696105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187056103	chr2:46696124-46696125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191704161	chr2:46696125-46696126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140293286	chr2:46696195-46696196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4952825	chr2:46696236-46696237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373888444	chr2:46696241-46696242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529601978	chr2:46696259-46696260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566582615	chr2:46696277-46696278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147496267	chr2:46696281-46696282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4952826	chr2:46696299-46696300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563144088	chr2:46696332-46696333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4952827	chr2:46696355-46696356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78538401	chr2:46696371-46696372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375490938	chr2:46696400-46696401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141839687	chr2:46696410-46696411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567995467	chr2:46696445-46696446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530306502	chr2:46696455-46696456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547202951	chr2:46696468-46696469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183600937	chr2:46696470-46696471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528051401	chr2:46696519-46696520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150607202	chr2:46696531-46696532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558626831	chr2:46696541-46696542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6733052	chr2:46696547-46696548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537891348	chr2:46696550-46696551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554665468	chr2:46696565-46696566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139630335	chr2:46696567-46696568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369611243	chr2:46696576-46696577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115041975	chr2:46696600-46696601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554000755	chr2:46696666-46696667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577133830	chr2:46696703-46696704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545979026	chr2:46696726-46696727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371610970	chr2:46696727-46696728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562612067	chr2:46696748-46696749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188150124	chr2:46696774-46696775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35509718	chr2:46696793-46696794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs56194963	chr2:46696796-46696797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527244975	chr2:46696798-46696799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368677816	chr2:46696823-46696824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546998386	chr2:46696879-46696880	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372790359	chr2:46696893-46696894	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560365682	chr2:46696906-46696907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113929037	chr2:46696911-46696912	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552345465	chr2:46696943-46696944	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146749120	chr2:46696954-46696955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537930050	chr2:46696969-46696970	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs77495336	chr2:46696971-46696972	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568378624	chr2:46696976-46696977	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534170736	chr2:46696997-46696998	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 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:41 , 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	chr2:46691800-46696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:46691800-46696400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:46691800-46696400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:46691800-46696800	Weak transcription	Adipose Nuclei	Adipose
15	chr2:46692000-46696800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:46692000-46702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:46695800-46696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:46695800-46697400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:46695800-46697400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:46696000-46696800	Enhancers	HMEC	breast
21	chr2:46696000-46696800	Enhancers	NHEK	skin
22	chr2:46696200-46696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:46696400-46696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:46696400-46696800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:46696400-46696800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:46696400-46698600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:46696600-46697800	Enhancers	Fetal Thymus	thymus
28	chr2:46696800-46697400	Enhancers	Adipose Nuclei	Adipose
29	chr2:46696800-46697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:46696800-46697600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:46696800-46697800	Enhancers	K562	blood
32	chr2:46696800-46698200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr2:46696800-46698400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:46697000-46697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:46697200-46697600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:46697200-46697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:46697400-46697800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:46697400-46697800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:46697400-46697800	Enhancers	GM12878-XiMat	blood
40	chr2:46697400-46698000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:46697600-46698000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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