Variant report

Variant	esv2755624
Chromosome Location	chr2:178767493-178768493
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	chr2:178763789..178767498-chr2:178770691..178773361,4	K562	blood:
2	chr2:178765919..178767498-chr2:178770984..178773004,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184639186	chr2:178767612-178767613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80189011	chr2:178767636-178767637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569606292	chr2:178767637-178767638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535212668	chr2:178767712-178767713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549131685	chr2:178767728-178767729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565756590	chr2:178767735-178767736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1358299	chr2:178767800-178767801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145848066	chr2:178767820-178767821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578002805	chr2:178767847-178767848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568203288	chr2:178767872-178767873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536509406	chr2:178767896-178767897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200680059	chr2:178767945-178767946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2695095	chr2:178767957-178767958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535873394	chr2:178768001-178768002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542634524	chr2:178768014-178768015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541844459	chr2:178768027-178768028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559467758	chr2:178768059-178768060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556824061	chr2:178768077-178768078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572992916	chr2:178768146-178768147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576309989	chr2:178768165-178768166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140106111	chr2:178768270-178768271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563715350	chr2:178768314-178768315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539020179	chr2:178768336-178768337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531131079	chr2:178768345-178768346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551221315	chr2:178768482-178768483	Weak transcription 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
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
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178762400-178770400	Weak transcription	Pancreas	Pancrea
2	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:178765600-178768200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:178765800-178774200	Weak transcription	HMEC	breast
5	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:178766600-178768000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:178766600-178768600	Enhancers	Fetal Heart	heart
8	chr2:178766600-178772600	Weak transcription	NHEK	skin
9	chr2:178767000-178770600	Weak transcription	Liver	Liver
10	chr2:178767200-178767600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:178767200-178767800	Enhancers	Stomach Mucosa	stomach
12	chr2:178767200-178768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178767200-178768200	Enhancers	Adipose Nuclei	Adipose
14	chr2:178767200-178768200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:178767200-178768600	Enhancers	Psoas Muscle	Psoas
16	chr2:178767200-178768600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:178767400-178768000	Enhancers	Ovary	ovary
18	chr2:178767400-178768600	Enhancers	Left Ventricle	heart
19	chr2:178767400-178768600	Enhancers	Right Atrium	heart
20	chr2:178767400-178770400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:178767600-178768000	Enhancers	Aorta	Aorta
22	chr2:178767800-178770600	Weak transcription	Stomach Mucosa	stomach
23	chr2:178768000-178770800	Weak transcription	Ovary	ovary
24	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:178768200-178770400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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