Variant report

Variant	esv2034501
Chromosome Location	chr2:144842387-144842399
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	chr2:144841519..144844337-chr2:144854788..144856843,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 50 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376403074	chr2:144842387-144842388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144832200-144843200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:144836000-144842400	Weak transcription	Psoas Muscle	Psoas
3	chr2:144837400-144844400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:144838000-144843600	Weak transcription	Fetal Kidney	kidney
5	chr2:144838000-144855000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:144838600-144843400	Enhancers	NHLF	lung
7	chr2:144838600-144846200	Enhancers	NHDF-Ad	bronchial
8	chr2:144838800-144842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:144839000-144843200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:144839200-144842800	Weak transcription	Fetal Stomach	stomach
11	chr2:144839400-144843000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:144839800-144845400	Enhancers	HSMM	muscle
13	chr2:144839800-144855200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:144840200-144842600	Enhancers	HMEC	breast
15	chr2:144840200-144843200	Enhancers	HSMMtube	muscle
16	chr2:144840200-144844600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:144840400-144842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:144840400-144842600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:144840400-144843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:144840400-144843200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:144840600-144842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:144840600-144842600	Enhancers	A549	lung
23	chr2:144840600-144843000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:144840600-144843000	Enhancers	NH-A	brain
25	chr2:144840600-144843200	Enhancers	NHEK	skin
26	chr2:144840600-144855000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:144841400-144842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:144841400-144843000	Weak transcription	Spleen	Spleen
29	chr2:144841400-144849000	Weak transcription	Fetal Lung	lung
30	chr2:144841600-144842400	Enhancers	Hela-S3	cervix
31	chr2:144841800-144842400	Weak transcription	Ovary	ovary
32	chr2:144841800-144843600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:144842000-144845400	Enhancers	Osteobl	bone
34	chr2:144842200-144842400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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