Variant report

Variant	esv3384421
Chromosome Location	chr2:37100800-37101219
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	chr2:37095568..37097536-chr2:37100134..37102065,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141661890	chr2:37100816-37100817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs576148284	chr2:37100828-37100829	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536556536	chr2:37100861-37100862	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540832706	chr2:37100879-37100880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs78501900	chr2:37100905-37100906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375595922	chr2:37100915-37100916	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562379132	chr2:37100957-37100958	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543438890	chr2:37100994-37100995	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370114919	chr2:37100998-37100999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555357162	chr2:37101003-37101004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573994148	chr2:37101010-37101011	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150112025	chr2:37101035-37101036	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs559308688	chr2:37101042-37101043	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554707173	chr2:37101051-37101052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577748830	chr2:37101054-37101055	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373577233	chr2:37101066-37101067	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540426676	chr2:37101084-37101085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72011811	chr2:37101085-37101086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs56195651	chr2:37101099-37101100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs114114311	chr2:37101128-37101129	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138414690	chr2:37101131-37101132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548972966	chr2:37101165-37101166	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560910973	chr2:37101167-37101168	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376390684	chr2:37101169-37101170	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528802859	chr2:37101170-37101171	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2717516	chr2:37101190-37101191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537128673	chr2:37101207-37101208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539214602	chr2:37101208-37101209	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375042161	chr2:37101209-37101210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
2	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
4	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
9	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:37077000-37102400	Weak transcription	Gastric	stomach
11	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
12	chr2:37077000-37116200	Weak transcription	NHLF	lung
13	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
14	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
15	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
18	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
20	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
21	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle
23	chr2:37084400-37102400	Weak transcription	Spleen	Spleen
24	chr2:37085800-37102000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:37086400-37103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:37088000-37101200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:37088000-37101400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:37089000-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
32	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:37091200-37101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:37091400-37105800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:37091600-37100800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:37091600-37101400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:37093200-37101600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:37093200-37105800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:37093600-37102400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:37093600-37102400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:37094200-37103600	Weak transcription	HMEC	breast
46	chr2:37094200-37113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:37094400-37103200	Weak transcription	Fetal Lung	lung
48	chr2:37094400-37110400	Weak transcription	NH-A	brain
49	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:37094600-37100800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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