Variant report

Variant	esv3495603
Chromosome Location	chr2:33781200-33781710
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	chr2:33779415..33782050-chr2:33782764..33784303,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562210719	chr2:33781205-33781206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529678372	chr2:33781243-33781244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10495793	chr2:33781257-33781258	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148793326	chr2:33781297-33781298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573022728	chr2:33781298-33781299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13008220	chr2:33781324-33781325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569887910	chr2:33781338-33781339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538556514	chr2:33781346-33781347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552487671	chr2:33781384-33781385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565523146	chr2:33781395-33781396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534511659	chr2:33781400-33781401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534536353	chr2:33781431-33781432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57659441	chr2:33781440-33781441	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553822609	chr2:33781459-33781460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370362303	chr2:33781463-33781464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374326565	chr2:33781470-33781471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113173474	chr2:33781475-33781476	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536600589	chr2:33781483-33781484	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556278818	chr2:33781487-33781488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576423576	chr2:33781505-33781506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113252370	chr2:33781510-33781511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58944862	chr2:33781516-33781517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541837854	chr2:33781539-33781540	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59876498	chr2:33781586-33781587	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111866561	chr2:33781605-33781606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574760091	chr2:33781673-33781674	Weak transcription Enhancers Strong transcription	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
Acute lymphoblastic leukemia	18458336	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
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
9	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
10	chr2:33765600-33784400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:33766800-33809800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:33772600-33791000	Strong transcription	GM12878-XiMat	blood
13	chr2:33772600-33793400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:33774000-33790200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:33775600-33783400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:33776000-33809800	Weak transcription	Pancreas	Pancrea
17	chr2:33776200-33782800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:33776800-33790600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:33777800-33783000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:33778000-33783600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:33778000-33785200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:33778200-33784800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:33778400-33796800	Weak transcription	Liver	Liver
24	chr2:33778400-33806400	Weak transcription	Primary T cells from cord blood	blood
25	chr2:33778400-33807600	Weak transcription	NH-A	brain
26	chr2:33778400-33808600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:33779400-33783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:33779600-33783800	Weak transcription	Lung	lung
29	chr2:33779800-33783600	Enhancers	Fetal Heart	heart
30	chr2:33780000-33781200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:33780000-33808600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:33780400-33781200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:33780400-33782800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:33780400-33783000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:33780400-33783000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:33780400-33783000	Weak transcription	Right Ventricle	heart
37	chr2:33780400-33783000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:33780400-33783200	Weak transcription	Fetal Stomach	stomach
39	chr2:33780400-33783400	Weak transcription	Spleen	Spleen
40	chr2:33780400-33785800	Strong transcription	Primary B cells from cord blood	blood
41	chr2:33780400-33787600	Weak transcription	Placenta	Placenta
42	chr2:33780400-33808600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:33780400-33809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:33780600-33781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:33780600-33782800	Weak transcription	Left Ventricle	heart
46	chr2:33780600-33783000	Weak transcription	Right Atrium	heart
47	chr2:33780600-33783800	Weak transcription	NHDF-Ad	bronchial
48	chr2:33780600-33785800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:33780600-33787800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:33780600-33789200	Weak transcription	Ovary	ovary

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