Variant report

Variant	nsv997562
Chromosome Location	chr2:52949987-53007471
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:52948968..52951484-chr2:52953850..52956784,2	MCF-7	breast:
2	chr2:52948968..52951484-chr2:52953850..52956784,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-1	chr2:52959880-52959915	ENSG00000228033
2	lnc-ASB3-1	chr2:52949815-52950001	ENSG00000228033
3	lnc-ASB3-1	chr2:52949815-52950001	ENSG00000228033
4	lnc-ASB3-1	chr2:52953810-52953956	ENSG00000228033
5	lnc-ASB3-1	chr2:52953810-52953956	ENSG00000228033

No data

Extended variants
information (count: 359 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2123978	chr2:52949987-52949988	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375669962	chr2:52949995-52949996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs2603417	chr2:52951036-52951037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368622597	chr2:52951049-52951050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186796852	chr2:52951059-52951060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536153320	chr2:52951062-52951063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2603418	chr2:52951068-52951069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541804372	chr2:52951098-52951099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140244003	chr2:52951101-52951102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13024776	chr2:52951106-52951107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367847240	chr2:52951107-52951108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376551555	chr2:52951108-52951109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543927239	chr2:52951109-52951110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564296905	chr2:52951110-52951111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533126850	chr2:52951111-52951112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79389220	chr2:52951119-52951120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546952222	chr2:52951121-52951122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142046178	chr2:52951138-52951139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374718995	chr2:52951140-52951141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529317460	chr2:52951146-52951147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35195633	chr2:52951152-52951153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369038015	chr2:52951172-52951173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144149032	chr2:52951187-52951188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145136911	chr2:52951200-52951201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2626374	chr2:52951213-52951214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2626373	chr2:52951249-52951250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538356539	chr2:52951281-52951282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569859947	chr2:52951284-52951285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62126972	chr2:52951330-52951331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571539314	chr2:52951334-52951335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534103329	chr2:52951339-52951340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192478370	chr2:52951341-52951342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73931428	chr2:52951347-52951348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185562723	chr2:52951358-52951359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555346733	chr2:52951360-52951361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575105424	chr2:52951370-52951371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372701484	chr2:52951402-52951403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190073855	chr2:52951425-52951426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544341507	chr2:52951431-52951432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2626372	chr2:52951450-52951451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564156166	chr2:52951459-52951460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533190331	chr2:52951468-52951469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540426240	chr2:52951481-52951482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143147852	chr2:52951509-52951510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192929974	chr2:52951538-52951539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548977823	chr2:52951566-52951567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13388911	chr2:52951587-52951588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs376629814	chr2:52951593-52951594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73931429	chr2:52951615-52951616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184759024	chr2:52951639-52951640	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52951000-52951400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:52951400-52952200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:52951800-52952200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:52951800-52952200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:52952200-52952400	Enhancers	Brain Hippocampus Middle	brain
6	chr2:52959800-52960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:52959800-52961200	Enhancers	Stomach Mucosa	stomach
8	chr2:52960000-52960400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:52960000-52960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:52960000-52960400	Enhancers	Spleen	Spleen
11	chr2:52960000-52960600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:52960000-52960600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:52960200-52960600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:52960200-52960600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:52960600-52961600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:52961200-52961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:52961600-52961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:52968200-52968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:52972800-52973400	Active TSS	Fetal Heart	heart
20	chr2:53003600-53004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:53003800-53004200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine

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