Variant report

Variant	esv3406875
Chromosome Location	chr2:64183565-64183911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64178266..64179991-chr2:64182528..64185252,2	K562	blood:
2	chr2:64183197..64185119-chr2:64186153..64188187,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527834701	chr2:64183578-64183579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552747087	chr2:64183585-64183586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373554764	chr2:64183630-64183631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543314588	chr2:64183668-64183669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572883656	chr2:64183677-64183678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540952674	chr2:64183705-64183706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568499251	chr2:64183738-64183739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188415337	chr2:64183745-64183746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375290960	chr2:64183747-64183748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141587325	chr2:64183753-64183754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57085982	chr2:64183778-64183779	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561550126	chr2:64183787-64183788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191385766	chr2:64183788-64183789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531375916	chr2:64183789-64183790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185101483	chr2:64183796-64183797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146216200	chr2:64183825-64183826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189278859	chr2:64183857-64183858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573343927	chr2:64183878-64183879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
12	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
13	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
14	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
17	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
18	chr2:64165600-64193600	Weak transcription	NHLF	lung
19	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:64166800-64202600	Weak transcription	HMEC	breast
21	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
22	chr2:64168600-64188000	Weak transcription	NH-A	brain
23	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
24	chr2:64168600-64202600	Weak transcription	K562	blood
25	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
28	chr2:64169000-64189200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:64171800-64194000	Weak transcription	NHEK	skin
31	chr2:64173600-64188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:64173600-64189200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain
34	chr2:64173800-64188000	Weak transcription	GM12878-XiMat	blood
35	chr2:64175200-64203000	Weak transcription	Thymus	Thymus
36	chr2:64175400-64189200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:64175400-64193800	Weak transcription	Right Ventricle	heart
38	chr2:64175600-64188000	Weak transcription	Adipose Nuclei	Adipose
39	chr2:64175600-64188600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:64175800-64186000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:64175800-64196200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:64175800-64196400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:64175800-64197800	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:64175800-64199600	Weak transcription	Fetal Stomach	stomach
46	chr2:64175800-64202800	Weak transcription	Gastric	stomach
47	chr2:64176000-64186800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:64176000-64187600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:64176000-64197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:64176000-64202600	Weak transcription	Lung	lung

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