Variant report

Variant	esv1796192
Chromosome Location	chr2:55081033-55110969
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55094613..55097035-chr2:55109267..55110940,2	K562	blood:
2	chr2:55078067..55080199-chr2:55091204..55092735,2	MCF-7	breast:
3	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:
4	chr2:55091369..55092932-chr2:55094954..55097133,2	K562	blood:
5	chr2:55101023..55103444-chr2:55105137..55107687,2	K562	blood:
6	chr2:55001781..55004496-chr2:55092891..55095421,2	K562	blood:
7	chr2:55109138..55110752-chr2:55114934..55116675,2	K562	blood:
8	chr2:55101023..55103444-chr2:55105137..55107687,2	K562	blood:
9	chr2:55085400..55087533-chr2:55090149..55092630,2	MCF-7	breast:
10	chr2:55087086..55089357-chr2:55090408..55092933,2	K562	blood:
11	chr2:55092274..55094701-chr2:55126446..55129153,2	K562	blood:
12	chr2:55087086..55089357-chr2:55090408..55092933,2	K562	blood:
13	chr2:55085400..55087533-chr2:55090149..55092630,2	MCF-7	breast:
14	chr2:55094613..55097035-chr2:55109267..55110940,2	K562	blood:
15	chr2:55102932..55103433-chr8:89431868..89432368,2	MCF-7	breast:
16	chr2:55091369..55092932-chr2:55094954..55097133,2	K562	blood:

No data

Extended variants
information (count: 1597 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1597 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79497035	chr2:55081033-55081034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189717699	chr2:55081040-55081041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561478490	chr2:55081041-55081042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77618979	chr2:55081047-55081048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532304468	chr2:55081050-55081051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550215525	chr2:55081061-55081062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149221789	chr2:55081083-55081084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145092548	chr2:55081115-55081116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138976564	chr2:55081122-55081123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571559044	chr2:55081138-55081139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371123861	chr2:55081163-55081164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534029450	chr2:55081198-55081199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547278619	chr2:55081295-55081296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529586510	chr2:55081302-55081303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567411940	chr2:55081303-55081304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535978209	chr2:55081329-55081330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556193750	chr2:55081337-55081338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575658065	chr2:55081339-55081340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538230890	chr2:55081351-55081352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12713280	chr2:55081376-55081377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
21	rs572402034	chr2:55081411-55081412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140886751	chr2:55081432-55081433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114719642	chr2:55081486-55081487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574948226	chr2:55081519-55081520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117224397	chr2:55081563-55081564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563791626	chr2:55081578-55081579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531621199	chr2:55081630-55081631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144716873	chr2:55081632-55081633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546218956	chr2:55081633-55081634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148193376	chr2:55081647-55081648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527591623	chr2:55081651-55081652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113946120	chr2:55081654-55081655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75637784	chr2:55081657-55081658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529873361	chr2:55081663-55081664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527613892	chr2:55081692-55081693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141127652	chr2:55081693-55081694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569401319	chr2:55081710-55081711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12713281	chr2:55081762-55081763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183990189	chr2:55081786-55081787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565304750	chr2:55081802-55081803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567478400	chr2:55081814-55081815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535031548	chr2:55081841-55081842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12713282	chr2:55081863-55081864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574968046	chr2:55081873-55081874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534068403	chr2:55081976-55081977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543989991	chr2:55081991-55081992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557539024	chr2:55081997-55081998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576550987	chr2:55082023-55082024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150722076	chr2:55082027-55082028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138069087	chr2:55082029-55082030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55066800-55084400	Weak transcription	HSMMtube	muscle
2	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:55078000-55082400	Weak transcription	HMEC	breast
9	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:55079400-55082800	Weak transcription	HepG2	liver
14	chr2:55081400-55085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:55082200-55083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:55082200-55083200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:55082400-55083000	Enhancers	HMEC	breast
19	chr2:55082400-55083400	Enhancers	HSMM	muscle
20	chr2:55082400-55083400	Enhancers	Osteobl	bone
21	chr2:55082400-55083600	Enhancers	NHDF-Ad	bronchial
22	chr2:55082600-55085000	Weak transcription	Hela-S3	cervix
23	chr2:55082800-55083000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:55082800-55083200	Enhancers	HepG2	liver
25	chr2:55083000-55084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:55083200-55084400	Weak transcription	HepG2	liver
27	chr2:55083200-55084800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:55083400-55085000	Weak transcription	Osteobl	bone
29	chr2:55083400-55086000	Weak transcription	HSMM	muscle
30	chr2:55083600-55085400	Weak transcription	NHDF-Ad	bronchial
31	chr2:55084400-55087000	Enhancers	HepG2	liver
32	chr2:55084400-55088800	Enhancers	HSMMtube	muscle
33	chr2:55084800-55085000	Enhancers	NH-A	brain
34	chr2:55084800-55086000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:55084800-55086200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:55084800-55088400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:55084800-55088400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:55085000-55085600	Weak transcription	NH-A	brain
39	chr2:55085000-55085800	Enhancers	Osteobl	bone
40	chr2:55085000-55086200	Enhancers	Hela-S3	cervix
41	chr2:55085200-55085400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:55085200-55085800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:55085200-55086000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:55085400-55085600	Weak transcription	NHEK	skin
45	chr2:55085400-55085800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:55085400-55086400	Enhancers	Liver	Liver
47	chr2:55085400-55086400	Enhancers	GM12878-XiMat	blood
48	chr2:55085400-55086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:55085400-55088200	Enhancers	NHDF-Ad	bronchial
50	chr2:55085600-55085800	Enhancers	Skeletal Muscle Female	skeletal muscle

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