Variant report

Variant	esv3424311
Chromosome Location	chr2:178215518-178216046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr2:178214736-178215569	K562	blood:	n/a	n/a
2	GATA2	chr2:178214360-178215630	SH-SY5Y	brain:	n/a	n/a
3	PBX3	chr2:178215785-178215930	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:178215782-178216143	HepG2	liver:	n/a	n/a
5	TCF3	chr2:178214735-178215575	GM12878	blood:	n/a	n/a
6	TCF3	chr2:178215744-178216210	GM12878	blood:	n/a	n/a
7	ZBTB33	chr2:178214579-178215920	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238295	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577223218	chr2:178215524-178215525	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537863447	chr2:178215606-178215607	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139895002	chr2:178215638-178215639	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372874095	chr2:178215639-178215640	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201131718	chr2:178215655-178215656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11900380	chr2:178215660-178215661	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35795213	chr2:178215671-178215672	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs397757056	chr2:178215672-178215673	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs202166053	chr2:178215700-178215701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200209465	chr2:178215720-178215721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55920542	chr2:178215752-178215753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541703914	chr2:178215765-178215766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372822931	chr2:178215773-178215774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201754973	chr2:178215777-178215778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142852677	chr2:178215785-178215786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76624516	chr2:178215823-178215824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183805347	chr2:178215824-178215825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146181429	chr2:178215828-178215829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552092856	chr2:178215839-178215840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55877787	chr2:178215865-178215866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371886049	chr2:178215874-178215875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187587436	chr2:178215890-178215891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200416882	chr2:178215936-178215937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74217202	chr2:178215940-178215941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199506150	chr2:178215941-178215942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556472520	chr2:178215942-178215943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397820989	chr2:178215962-178215963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144028334	chr2:178215979-178215980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146448384	chr2:178215989-178215990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545935056	chr2:178216005-178216006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553648787	chr2:178216018-178216019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115107991	chr2:178216029-178216030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-syndromic sensorineural hearing loss	18496225	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:178203200-178216400	Weak transcription	HSMMtube	muscle
8	chr2:178203200-178217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:178203400-178216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:178203400-178216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:178203400-178217000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:178203400-178244400	Weak transcription	HSMM	muscle
13	chr2:178203800-178221600	Weak transcription	A549	lung
14	chr2:178210600-178218000	Enhancers	HepG2	liver
15	chr2:178211800-178217400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:178212000-178224400	Weak transcription	Fetal Heart	heart
17	chr2:178212600-178218000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:178213000-178217400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:178213400-178217400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:178213600-178215600	Enhancers	Pancreas	Pancrea
22	chr2:178213600-178217200	Enhancers	Esophagus	oesophagus
23	chr2:178213600-178218400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:178213800-178216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:178213800-178217400	Weak transcription	Fetal Kidney	kidney
26	chr2:178214000-178216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:178214200-178220400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:178214400-178216400	Weak transcription	Right Atrium	heart
29	chr2:178214400-178216600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:178214400-178216600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:178214400-178219800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:178214400-178220400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:178214400-178228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:178214600-178217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:178214800-178220400	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:178214800-178221400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:178215000-178218400	Enhancers	Adipose Nuclei	Adipose
38	chr2:178215200-178215600	Enhancers	Ovary	ovary
39	chr2:178215200-178216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:178215200-178217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:178215200-178217800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:178215200-178218200	Enhancers	Fetal Stomach	stomach
43	chr2:178215400-178215800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:178215400-178216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:178215400-178216600	Weak transcription	Placenta	Placenta
46	chr2:178215400-178216800	Weak transcription	Lung	lung
47	chr2:178215400-178220200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:178215600-178215800	Weak transcription	Ovary	ovary
49	chr2:178215600-178216400	Weak transcription	Pancreas	Pancrea
50	chr2:178215600-178217400	Enhancers	NHEK	skin

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