Variant report

Variant	esv2322410
Chromosome Location	chr2:188343734-188343736
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	chr2:188343524..188345048-chr2:188346989..188348629,2	K562	blood:
2	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 49 )

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	rs8176530	chr2:188343734-188343735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:188326800-188357800	Weak transcription	Lung	lung
4	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
5	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
8	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:188329000-188358000	Weak transcription	K562	blood
11	chr2:188329200-188347800	Strong transcription	Liver	Liver
12	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
13	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:188334600-188348200	Weak transcription	A549	lung
16	chr2:188336800-188344200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:188336800-188345800	Strong transcription	HUVEC	blood vessel
18	chr2:188337200-188354000	Strong transcription	HepG2	liver
19	chr2:188339400-188349600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:188339800-188357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:188340800-188343800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:188341000-188344400	Strong transcription	Placenta	Placenta
23	chr2:188341200-188344000	Strong transcription	NHDF-Ad	bronchial
24	chr2:188341200-188347200	Strong transcription	NH-A	brain
25	chr2:188341200-188349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:188341200-188357200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:188341800-188343800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:188341800-188345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:188342200-188346000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:188342200-188350600	Strong transcription	Osteobl	bone
31	chr2:188342400-188344000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:188342600-188356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:188342800-188347200	Weak transcription	NHLF	lung
34	chr2:188342800-188347400	Weak transcription	HSMMtube	muscle
35	chr2:188342800-188348200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:188342800-188357200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:188342800-188362400	Strong transcription	HSMM	muscle
38	chr2:188343400-188343800	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:188343400-188347600	Weak transcription	Hela-S3	cervix
40	chr2:188343400-188348400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:188343600-188344000	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:188343600-188346000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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