Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178540518..178542600-chr2:178544661..178547619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128655	chromatin interactions

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	rs57733755	chr2:178547462-178547463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397956878	chr2:178547463-178547464	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368287153	chr2:178547464-178547465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150331573	chr2:178547519-178547520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528774312	chr2:178547622-178547623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77223227	chr2:178547639-178547640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551516292	chr2:178547692-178547693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556676634	chr2:178547695-178547696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571326218	chr2:178547702-178547703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73979519	chr2:178547738-178547739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191745948	chr2:178547739-178547740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77389369	chr2:178547777-178547778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536245239	chr2:178547818-178547819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116248227	chr2:178547866-178547867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Intellectual disability	22102821	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
2	chr2:178544000-178548000	Enhancers	K562	blood
3	chr2:178544600-178552600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:178545200-178548000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:178545400-178549200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:178546200-178548600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:178546800-178554400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:178547000-178552800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:178547200-178548200	Enhancers	HepG2	liver
10	chr2:178547400-178549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:178547400-178554400	Weak transcription	Fetal Kidney	kidney

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