Variant report

Variant	esv2752438
Chromosome Location	chr2:56700945-56788111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:
2	chr2:56694865..56697843-chr2:56699153..56701707,2	K562	blood:
3	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:
4	chr2:56712446..56715805-chr2:56715913..56718977,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-1	chr2:56750279-56750484	NONHSAT070827
2	lnc-CCDC85A-1	chr2:56750280-56750484	XLOC_001482

Variant related genes	Relation type
NR2E1	miRNA target sites

Extended variants
information (count: 1433 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1030334	chr2:56700945-56700946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541482023	chr2:56700971-56700972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150692952	chr2:56700981-56700982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1030333	chr2:56701022-56701023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372228837	chr2:56701065-56701066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139982291	chr2:56701117-56701118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79131454	chr2:56701158-56701159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62161574	chr2:56701165-56701166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188793838	chr2:56701173-56701174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546050116	chr2:56701182-56701183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552948391	chr2:56701198-56701199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375687970	chr2:56701212-56701213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566042073	chr2:56701223-56701224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528497827	chr2:56701275-56701276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548674775	chr2:56701369-56701370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149835313	chr2:56701391-56701392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377227244	chr2:56701394-56701395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35332401	chr2:56701462-56701463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115975031	chr2:56701491-56701492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76627028	chr2:56701498-56701499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17047986	chr2:56701657-56701658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs72931987	chr2:56701697-56701698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548324919	chr2:56701727-56701728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552857117	chr2:56701773-56701774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185225944	chr2:56701785-56701786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541443426	chr2:56701856-56701857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76547133	chr2:56701868-56701869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139879793	chr2:56701903-56701904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544342817	chr2:56701949-56701950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375931453	chr2:56701970-56701971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142893011	chr2:56702016-56702017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75101108	chr2:56702041-56702042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532753141	chr2:56702057-56702058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190511036	chr2:56702063-56702064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560111611	chr2:56702076-56702077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182125961	chr2:56702090-56702091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369094899	chr2:56702124-56702125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554104279	chr2:56702158-56702159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530829521	chr2:56702172-56702173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548588938	chr2:56702176-56702177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117781532	chr2:56702323-56702324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373505896	chr2:56702342-56702343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143291437	chr2:56702343-56702344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551093470	chr2:56702359-56702360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570512559	chr2:56702369-56702370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550332549	chr2:56702378-56702379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146685068	chr2:56702434-56702435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552817977	chr2:56702445-56702446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566443542	chr2:56702469-56702470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10490404	chr2:56702495-56702496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56700400-56701400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:56700400-56701800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:56700400-56702000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:56700400-56702200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:56700400-56702400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:56700600-56701400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:56700600-56701400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:56700600-56701600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:56700600-56702200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:56700600-56703000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56700800-56701200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56700800-56701600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:56700800-56703400	Enhancers	Adipose Nuclei	Adipose
14	chr2:56701000-56701600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:56701000-56703000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:56701200-56701400	Enhancers	Left Ventricle	heart
17	chr2:56701200-56701400	Enhancers	Right Atrium	heart
18	chr2:56701200-56701600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:56701200-56701600	Enhancers	Fetal Intestine Large	intestine
20	chr2:56701200-56702000	Enhancers	Fetal Intestine Small	intestine
21	chr2:56701200-56702000	Enhancers	Right Ventricle	heart
22	chr2:56701200-56702200	Enhancers	Pancreas	Pancrea
23	chr2:56701200-56702600	Enhancers	Hela-S3	cervix
24	chr2:56701200-56702800	Enhancers	Liver	Liver
25	chr2:56701200-56703000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:56701200-56703200	Enhancers	Fetal Heart	heart
27	chr2:56701400-56702000	Weak transcription	Left Ventricle	heart
28	chr2:56701400-56702200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:56701400-56702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:56701400-56704000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:56701600-56702000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:56701600-56702600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:56701600-56702800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:56701800-56702200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:56701800-56702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:56701800-56702600	Enhancers	HSMMtube	muscle
37	chr2:56702000-56702200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr2:56702000-56702200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:56702000-56702200	Enhancers	Left Ventricle	heart
40	chr2:56702000-56702400	Enhancers	HSMM	muscle
41	chr2:56702000-56702800	Enhancers	Psoas Muscle	Psoas
42	chr2:56702200-56703000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:56702200-56703600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:56702200-56703600	Weak transcription	Left Ventricle	heart
45	chr2:56702200-56703600	Weak transcription	Pancreas	Pancrea
46	chr2:56702200-56703800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:56702200-56703800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:56702400-56703600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:56702600-56702800	Enhancers	Fetal Intestine Large	intestine
50	chr2:56702800-56703600	Weak transcription	Psoas Muscle	Psoas

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