Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:191401207..191403426-chr2:191411278..191414173,2	K562	blood:
2	chr2:191413004..191414624-chr2:191437480..191439283,2	MCF-7	breast:
3	chr2:191401207..191403475-chr2:191412047..191414173,2	K562	blood:
4	chr2:191413067..191415072-chr2:191491167..191493788,2	K562	blood:

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558893168	chr2:191413830-191413831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570877011	chr2:191413837-191413838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534811284	chr2:191413846-191413847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386653746	chr2:191413862-191413863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34825614	chr2:191413863-191413864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535482221	chr2:191413911-191413912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374101382	chr2:191413912-191413913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188680312	chr2:191413928-191413929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557219614	chr2:191413929-191413930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575491805	chr2:191413958-191413959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112615120	chr2:191414034-191414035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545945221	chr2:191414055-191414056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564132689	chr2:191414085-191414086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181444900	chr2:191414103-191414104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191403000-191416800	Weak transcription	Gastric	stomach
2	chr2:191405400-191416800	Weak transcription	Esophagus	oesophagus
3	chr2:191410400-191414000	Weak transcription	NHLF	lung
4	chr2:191410800-191418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
6	chr2:191411800-191416800	Weak transcription	Psoas Muscle	Psoas
7	chr2:191412000-191416600	Weak transcription	HepG2	liver
8	chr2:191413000-191416000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:191413600-191416600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: