Variant report

Variant	esv3440129
Chromosome Location	chr2:58363198-58365446
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	chr2:58322239..58324649-chr2:58364726..58366691,2	MCF-7	breast:
2	chr2:58358163..58360971-chr2:58362673..58364987,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116461439	chr2:58363286-58363287	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150267074	chr2:58363316-58363317	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577521517	chr2:58363324-58363325	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145881090	chr2:58363325-58363326	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372155892	chr2:58363343-58363344	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563354567	chr2:58363349-58363350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546761974	chr2:58363413-58363414	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75255706	chr2:58363444-58363445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17049366	chr2:58363449-58363450	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561306087	chr2:58363472-58363473	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528723816	chr2:58363498-58363499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547309133	chr2:58363500-58363501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369159775	chr2:58363524-58363525	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34101779	chr2:58363537-58363538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78252567	chr2:58363538-58363539	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112947430	chr2:58363540-58363541	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192863584	chr2:58363547-58363548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539350563	chr2:58363550-58363551	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551367646	chr2:58363601-58363602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185434635	chr2:58363621-58363622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536732614	chr2:58363664-58363665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555480943	chr2:58363704-58363705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148928501	chr2:58363729-58363730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534770804	chr2:58363760-58363761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147046653	chr2:58363783-58363784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577484094	chr2:58363808-58363809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544920810	chr2:58363811-58363812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189446422	chr2:58363827-58363828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575627928	chr2:58363904-58363905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527373955	chr2:58363908-58363909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542744696	chr2:58363929-58363930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561478606	chr2:58363936-58363937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368420541	chr2:58363957-58363958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192351569	chr2:58363966-58363967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538904739	chr2:58363975-58363976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200465855	chr2:58363980-58363981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72194742	chr2:58363997-58363998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34387144	chr2:58364004-58364005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66616774	chr2:58364007-58364008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70954876	chr2:58364012-58364013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184939867	chr2:58364013-58364014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368488643	chr2:58364041-58364042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372180750	chr2:58364042-58364043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67739028	chr2:58364043-58364044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397789603	chr2:58364047-58364048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371472405	chr2:58364057-58364058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111206864	chr2:58364074-58364075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201595853	chr2:58364102-58364103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375923638	chr2:58364108-58364109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369246765	chr2:58364109-58364110	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
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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
2	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:58346600-58373600	Weak transcription	NHEK	skin
13	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
15	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
17	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
21	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:58350400-58363600	Weak transcription	Right Ventricle	heart
24	chr2:58350400-58383800	Weak transcription	K562	blood
25	chr2:58350800-58367400	Weak transcription	Primary T cells from cord blood	blood
26	chr2:58350800-58370800	Weak transcription	Liver	Liver
27	chr2:58351000-58364600	Weak transcription	HUVEC	blood vessel
28	chr2:58351000-58371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:58351000-58382400	Weak transcription	Esophagus	oesophagus
30	chr2:58351000-58384600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:58351200-58365800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
33	chr2:58357000-58363600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:58358000-58366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:58358800-58364600	Weak transcription	NH-A	brain
38	chr2:58358800-58367200	Weak transcription	Ovary	ovary
39	chr2:58358800-58382400	Weak transcription	Pancreas	Pancrea
40	chr2:58358800-58385200	Weak transcription	Placenta	Placenta
41	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
42	chr2:58359000-58367000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:58359000-58367400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:58359000-58368000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:58359000-58371400	Weak transcription	Colonic Mucosa	Colon
46	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach

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