Variant report

Variant	esv3423822
Chromosome Location	chr2:179000719-179000961
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	chr2:178985318..178987568-chr2:178999084..179001889,3	K562	blood:

Variant related genes	Relation type
ENSG00000155636	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536504274	chr2:179000731-179000732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145040129	chr2:179000770-179000771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185918360	chr2:179000776-179000777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11691499	chr2:179000847-179000848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs334063	chr2:179000853-179000854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557811271	chr2:179000905-179000906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372454980	chr2:179000909-179000910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190940245	chr2:179000910-179000911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563431976	chr2:179000926-179000927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529202986	chr2:179000928-179000929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-179001000	Weak transcription	Lung	lung
2	chr2:178978000-179002200	Weak transcription	Esophagus	oesophagus
3	chr2:178978000-179003200	Weak transcription	Spleen	Spleen
4	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
5	chr2:178978000-179016400	Weak transcription	Gastric	stomach
6	chr2:178978200-179002800	Weak transcription	Fetal Stomach	stomach
7	chr2:178978400-179001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:178978400-179001400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:178978400-179001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:178978400-179001800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:178978600-179001800	Weak transcription	Hela-S3	cervix
12	chr2:178978600-179003000	Weak transcription	Right Ventricle	heart
13	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
14	chr2:178978800-179001000	Weak transcription	Pancreas	Pancrea
15	chr2:178978800-179004000	Weak transcription	Brain Germinal Matrix	brain
16	chr2:178979000-179005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:178987200-179005800	Weak transcription	Psoas Muscle	Psoas
18	chr2:178987400-179002800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
20	chr2:178988400-179001800	Weak transcription	NHDF-Ad	bronchial
21	chr2:178988400-179002000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:178988600-179002800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:178989600-179001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:178989600-179001600	Weak transcription	Ovary	ovary
25	chr2:178990200-179007000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:178990400-179003000	Weak transcription	HMEC	breast
27	chr2:178990600-179001800	Weak transcription	HepG2	liver
28	chr2:178990800-179001400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:178990800-179001800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:178990800-179002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:178990800-179003800	Weak transcription	GM12878-XiMat	blood
32	chr2:178991000-179001400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:178991000-179009600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:178991200-179007400	Weak transcription	Osteobl	bone
35	chr2:178991800-179003600	Weak transcription	Left Ventricle	heart
36	chr2:178992200-179003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:178992400-179003200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:178992400-179007800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:178993200-179001200	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:178993200-179016800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:178993400-179002800	Weak transcription	Fetal Brain Female	brain
42	chr2:178994400-179001800	Weak transcription	Primary B cells from cord blood	blood
43	chr2:178994400-179003000	Weak transcription	Fetal Intestine Large	intestine
44	chr2:178994400-179003600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:178994400-179007200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:178994400-179007200	Weak transcription	HSMMtube	muscle
47	chr2:178994600-179002600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:178994600-179002600	Weak transcription	NH-A	brain
49	chr2:178994600-179004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:178994600-179004200	Weak transcription	Brain Anterior Caudate	brain

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