Variant report

Variant	esv3400611
Chromosome Location	chr2:54095538-54095753
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	chr2:54080524..54082859-chr2:54093710..54096577,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542224832	chr2:54095558-54095559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201461075	chr2:54095613-54095614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561721048	chr2:54095620-54095621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567975754	chr2:54095621-54095622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202165564	chr2:54095631-54095632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58380277	chr2:54095633-54095634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533839900	chr2:54095653-54095654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553610670	chr2:54095659-54095660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28544593	chr2:54095667-54095668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28694200	chr2:54095668-54095669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202011245	chr2:54095679-54095680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192643111	chr2:54095688-54095689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539241532	chr2:54095693-54095694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556422062	chr2:54095694-54095695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28362158	chr2:54095700-54095701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28424202	chr2:54095701-54095702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377694045	chr2:54095713-54095714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562976172	chr2:54095724-54095725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542187105	chr2:54095727-54095728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs805384	chr2:54095751-54095752	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54074800-54096600	Weak transcription	Hela-S3	cervix
2	chr2:54084000-54102000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:54085400-54106600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:54086600-54101200	Weak transcription	Fetal Brain Male	brain
5	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:54087400-54097400	Strong transcription	Primary B cells from cord blood	blood
8	chr2:54087400-54112200	Weak transcription	Psoas Muscle	Psoas
9	chr2:54087400-54112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:54087400-54117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:54087600-54100800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:54087600-54110800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:54087600-54113600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:54087600-54116600	Weak transcription	Pancreas	Pancrea
16	chr2:54087600-54117000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
18	chr2:54087800-54112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:54088000-54113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:54088200-54100800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:54088400-54137200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:54088600-54138000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:54089200-54104400	Strong transcription	Osteobl	bone
24	chr2:54089800-54096800	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:54089800-54106200	Strong transcription	Left Ventricle	heart
26	chr2:54089800-54136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:54090000-54098800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:54090200-54096600	Strong transcription	Fetal Intestine Large	intestine
29	chr2:54090200-54097000	Strong transcription	HepG2	liver
30	chr2:54090200-54097600	Strong transcription	HSMM	muscle
31	chr2:54090200-54103600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:54090200-54107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:54090200-54137800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:54090200-54138200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:54090400-54096800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:54090400-54097000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:54090400-54098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:54090400-54098600	Strong transcription	Primary T cells from cord blood	blood
39	chr2:54090400-54103800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:54090400-54137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:54090600-54095600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:54090600-54096800	Strong transcription	HUVEC	blood vessel
43	chr2:54090800-54099600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:54090800-54137400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:54091000-54098000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:54091000-54137000	Strong transcription	Fetal Thymus	thymus
47	chr2:54091000-54137800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:54091000-54138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:54091200-54095600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:54091200-54096000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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