Variant report

Variant	esv1350529
Chromosome Location	chr2:153304730-153304731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
2	chr2:153191085..153193954-chr2:153302933..153305841,2	MCF-7	breast:
3	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:

Variant related genes	Relation type
ENSG00000157827	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56117902	chr2:153304730-153304731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs397986314	chr2:153304731-153304732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
3	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:153295400-153311000	Weak transcription	Ovary	ovary
6	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:153299000-153305200	Enhancers	Brain Angular Gyrus	brain
10	chr2:153299800-153305200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:153300200-153305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:153300400-153305800	Enhancers	Adipose Nuclei	Adipose
13	chr2:153300600-153307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:153300600-153311200	Weak transcription	Lung	lung
15	chr2:153300800-153306600	Enhancers	HepG2	liver
16	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
17	chr2:153301200-153305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:153301400-153305200	Enhancers	HMEC	breast
19	chr2:153301600-153307200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:153301800-153306200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153301800-153307200	Weak transcription	Fetal Thymus	thymus
23	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
24	chr2:153302000-153305200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:153302400-153305800	Enhancers	NHEK	skin
26	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
28	chr2:153302600-153309200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:153302600-153309800	Weak transcription	Fetal Stomach	stomach
30	chr2:153302800-153305000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:153302800-153305800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
34	chr2:153303000-153305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:153303000-153305200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:153303000-153305400	Enhancers	Brain Hippocampus Middle	brain
37	chr2:153303000-153305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
39	chr2:153303200-153305200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:153303200-153306800	Weak transcription	Fetal Brain Male	brain
41	chr2:153303200-153309200	Weak transcription	A549	lung
42	chr2:153303400-153305400	Weak transcription	Fetal Lung	lung
43	chr2:153303400-153305800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:153303400-153306000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:153303400-153307200	Weak transcription	Fetal Brain Female	brain
46	chr2:153303400-153308400	Weak transcription	NH-A	brain
47	chr2:153303400-153311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:153303400-153322600	Weak transcription	NHLF	lung
49	chr2:153303600-153311000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:153303600-153312000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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