Variant report

Variant	esv3431561
Chromosome Location	chr2:55523598-55525596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55517531..55519068-chr2:55523898..55526477,2	MCF-7	breast:
2	chr2:55521570..55523251-chr2:55525570..55527092,2	MCF-7	breast:
3	chr2:55517623..55519304-chr2:55522229..55524562,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374372727	chr2:55523601-55523602	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs377247476	chr2:55523633-55523634	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201633855	chr2:55523682-55523683	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529467435	chr2:55523743-55523744	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533598171	chr2:55523771-55523772	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146421592	chr2:55523912-55523913	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538570473	chr2:55523926-55523927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551783200	chr2:55523935-55523936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571290780	chr2:55523963-55523964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533751889	chr2:55523977-55523978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553918023	chr2:55523989-55523990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571832611	chr2:55523994-55523995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13389799	chr2:55524012-55524013	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556366200	chr2:55524028-55524029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573889566	chr2:55524083-55524084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576156802	chr2:55524087-55524088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139985177	chr2:55524097-55524098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536900773	chr2:55524103-55524104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28434193	chr2:55524114-55524115	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2576689	chr2:55524126-55524127	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532886986	chr2:55524198-55524199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112921045	chr2:55524212-55524213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540205840	chr2:55524243-55524244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11364518	chr2:55524245-55524246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398080275	chr2:55524250-55524251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191876115	chr2:55524274-55524275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529307402	chr2:55524275-55524276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376132601	chr2:55524277-55524278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563142901	chr2:55524313-55524314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182462944	chr2:55524338-55524339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374048117	chr2:55524411-55524412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368238254	chr2:55524412-55524413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370804753	chr2:55524419-55524420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376947976	chr2:55524420-55524421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs70949099	chr2:55524421-55524422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527302031	chr2:55524473-55524474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567640207	chr2:55524495-55524496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs70949100	chr2:55524496-55524497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186779529	chr2:55524501-55524502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536716227	chr2:55524508-55524509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369542752	chr2:55524526-55524527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368652921	chr2:55524535-55524536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372856604	chr2:55524541-55524542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572478544	chr2:55524594-55524595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547368235	chr2:55524735-55524736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6740631	chr2:55524740-55524741	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536396629	chr2:55524762-55524763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192390322	chr2:55524766-55524767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184347915	chr2:55524799-55524800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555965879	chr2:55524831-55524832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55509000-55541200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55509400-55545200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:55510000-55541600	Weak transcription	Esophagus	oesophagus
4	chr2:55510000-55553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55510000-55578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:55510200-55542200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:55510200-55559000	Weak transcription	Psoas Muscle	Psoas
8	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:55510400-55529000	Weak transcription	Placenta	Placenta
10	chr2:55510600-55533800	Weak transcription	Pancreas	Pancrea
11	chr2:55510600-55536600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:55510600-55537400	Weak transcription	Lung	lung
13	chr2:55510800-55542200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:55511000-55540600	Weak transcription	Spleen	Spleen
15	chr2:55511200-55542200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:55511200-55547000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:55512000-55549800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:55512400-55577400	Weak transcription	Right Ventricle	heart
19	chr2:55512600-55525000	Weak transcription	Gastric	stomach
20	chr2:55512600-55546000	Weak transcription	Small Intestine	intestine
21	chr2:55513200-55525400	Strong transcription	Fetal Thymus	thymus
22	chr2:55513600-55531400	Strong transcription	Dnd41	blood
23	chr2:55514800-55549600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:55515800-55550400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:55516200-55525400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:55516400-55527800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:55518000-55524200	Strong transcription	HSMM	muscle
28	chr2:55518600-55532200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:55518600-55591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:55519400-55524400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:55519400-55529400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:55519400-55533400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:55519600-55524000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:55519800-55523800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:55519800-55579000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:55520000-55523800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:55520000-55538800	Weak transcription	Ovary	ovary
38	chr2:55520000-55541200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:55520200-55529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:55520200-55531600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:55520200-55539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:55520200-55554400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:55520400-55591200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:55520600-55523800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:55521200-55529400	Strong transcription	Osteobl	bone
46	chr2:55521400-55524000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:55521400-55591000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:55521600-55523600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:55521600-55523800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:55521600-55524000	Strong transcription	NHDF-Ad	bronchial

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