Variant report

Variant	nsv9813
Chromosome Location	chr2:56237501-56243601
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55998478..55999313-chr2:56236137..56237588,8	MCF-7	breast:
2	chr2:55945048..55945967-chr2:56236595..56237551,5	K562	blood:
3	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:
4	chr2:56212547..56214405-chr2:56239405..56242295,2	K562	blood:
5	chr2:55945047..55945916-chr2:56236760..56237988,4	MCF-7	breast:
6	chr2:56234512..56236770-chr2:56238872..56240573,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFEMP1-1	chr2:56240744-56240846	ENSG00000226702

No data

Extended variants
information (count: 223 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192315259	chr2:56237512-56237513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183676782	chr2:56237564-56237565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62164518	chr2:56237577-56237578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541771431	chr2:56237604-56237605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79304996	chr2:56237614-56237615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397871573	chr2:56237615-56237616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368292781	chr2:56237616-56237617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572650854	chr2:56237665-56237666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191972529	chr2:56237707-56237708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372532348	chr2:56237718-56237719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540493218	chr2:56237744-56237745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560439201	chr2:56237792-56237793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77697008	chr2:56237796-56237797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376995013	chr2:56237797-56237798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184095748	chr2:56237799-56237800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562600554	chr2:56237827-56237828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115410495	chr2:56237864-56237865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534528201	chr2:56237868-56237869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556813720	chr2:56237898-56237899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551509865	chr2:56237899-56237900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576547993	chr2:56237920-56237921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571227531	chr2:56237932-56237933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186971357	chr2:56237977-56237978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140001134	chr2:56238011-56238012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567483405	chr2:56238087-56238088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192509528	chr2:56238099-56238100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556133614	chr2:56238134-56238135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554155147	chr2:56238144-56238145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569839066	chr2:56238148-56238149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149422912	chr2:56238158-56238159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574243363	chr2:56238202-56238203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557847552	chr2:56238253-56238254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373330561	chr2:56238297-56238298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184482497	chr2:56238325-56238326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11899989	chr2:56238357-56238358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114751238	chr2:56238386-56238387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34483640	chr2:56238395-56238396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540442895	chr2:56238465-56238466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574296205	chr2:56238468-56238469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370683892	chr2:56238498-56238499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114614099	chr2:56238500-56238501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146450335	chr2:56238513-56238514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375586237	chr2:56238516-56238517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562899316	chr2:56238526-56238527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189006433	chr2:56238538-56238539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374384577	chr2:56238571-56238572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565002317	chr2:56238584-56238585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549052870	chr2:56238676-56238677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527263962	chr2:56238728-56238729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547457545	chr2:56238774-56238775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel
2	chr2:56235600-56237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:56235600-56238600	Enhancers	Fetal Kidney	kidney
4	chr2:56235800-56238600	Enhancers	Fetal Intestine Small	intestine
5	chr2:56236000-56237600	Enhancers	Hela-S3	cervix
6	chr2:56236400-56242800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:56236600-56238000	Weak transcription	Fetal Brain Female	brain
8	chr2:56236600-56239400	Weak transcription	Fetal Stomach	stomach
9	chr2:56236600-56240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:56236600-56240800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:56236600-56245000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:56236800-56238400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:56236800-56241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:56236800-56241200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:56236800-56241200	Weak transcription	Fetal Lung	lung
16	chr2:56236800-56242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:56237000-56237800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:56237000-56239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56237000-56241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:56237000-56241200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:56237000-56241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:56237000-56241200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:56237000-56241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:56237000-56242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:56237000-56242800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:56237000-56243000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:56237000-56243000	Weak transcription	Osteobl	bone
28	chr2:56237400-56237600	Enhancers	Brain Germinal Matrix	brain
29	chr2:56237400-56239400	Weak transcription	A549	lung
30	chr2:56237600-56238000	Weak transcription	Hela-S3	cervix
31	chr2:56237600-56245400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:56237800-56238000	Enhancers	Fetal Intestine Large	intestine
33	chr2:56238000-56238600	Enhancers	Hela-S3	cervix
34	chr2:56238000-56239400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:56238400-56238600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:56238400-56238600	Enhancers	Pancreas	Pancrea
37	chr2:56238600-56239200	Weak transcription	Fetal Kidney	kidney
38	chr2:56238600-56242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:56238600-56242800	Weak transcription	Pancreas	Pancrea
40	chr2:56238600-56244800	Weak transcription	Hela-S3	cervix
41	chr2:56239000-56241000	Weak transcription	Fetal Brain Female	brain
42	chr2:56239200-56239600	Enhancers	Fetal Kidney	kidney
43	chr2:56239400-56239600	Enhancers	Fetal Intestine Large	intestine
44	chr2:56239400-56239800	Enhancers	Fetal Stomach	stomach
45	chr2:56239400-56239800	Enhancers	A549	lung
46	chr2:56239400-56241000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:56239600-56239800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:56239600-56239800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:56239600-56242000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:56239800-56242800	Weak transcription	A549	lung

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