Variant report

Variant	esv3334082
Chromosome Location	chr2:178155193-178155771
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	ETS1	chr2:178155045-178155300	GM12878	blood:	n/a	chr2:178155232-178155239 chr2:178155228-178155243 chr2:178155228-178155241
2	MTA3	chr2:178154681-178155271	GM12878	blood:	n/a	n/a
3	RUNX3	chr2:178154563-178155404	GM12878	blood:	n/a	n/a
4	RUNX3	chr2:178154533-178155380	GM12878	blood:	n/a	n/a
5	SPI1	chr2:178154919-178155381	GM12891	blood:	n/a	chr2:178155233-178155240 chr2:178155230-178155243
6	SPI1	chr2:178154985-178155376	GM12891	blood:	n/a	chr2:178155233-178155240 chr2:178155230-178155243
7	SPI1	chr2:178155021-178155296	HL-60	blood:	n/a	chr2:178155233-178155240 chr2:178155230-178155243
8	SPI1	chr2:178155081-178155282	GM12878	blood:	n/a	chr2:178155233-178155240 chr2:178155230-178155243
9	SPI1	chr2:178155047-178155376	GM12878	blood:	n/a	chr2:178155233-178155240 chr2:178155230-178155243
10	ZNF384	chr2:178155183-178155248	K562	blood:	n/a	n/a
11	ZNF384	chr2:178154956-178155416	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178128746..178130573-chr2:178154550..178157397,2	MCF-7	breast:
2	chr2:178076525..178078749-chr2:178153292..178155785,2	MCF-7	breast:
3	chr2:178152949..178155690-chr2:178158625..178160129,2	MCF-7	breast:
4	chr2:178127315..178131627-chr2:178155428..178160936,10	MCF-7	breast:
5	chr2:178154268..178156723-chr2:178159344..178161068,2	K562	blood:

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000263721	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000229337	chromatin interactions
ENSG00000222043	chromatin interactions
ENSG00000170144	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1551290	chr2:178155224-178155225	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5836601	chr2:178155252-178155253	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113107019	chr2:178155254-178155255	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs201103379	chr2:178155260-178155261	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs35251186	chr2:178155264-178155265	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs374362760	chr2:178155301-178155302	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs113372734	chr2:178155344-178155345	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs528048720	chr2:178155349-178155350	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs541746003	chr2:178155350-178155351	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs560058964	chr2:178155361-178155362	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs148795209	chr2:178155395-178155396	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs1973047	chr2:178155423-178155424	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189051831	chr2:178155470-178155471	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs531031922	chr2:178155500-178155501	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs549149385	chr2:178155501-178155502	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs78493665	chr2:178155629-178155630	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs576014663	chr2:178155654-178155655	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs148430274	chr2:178155704-178155705	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs534013540	chr2:178155707-178155708	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs199753640	chr2:178155720-178155721	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs538158259	chr2:178155723-178155724	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs192536211	chr2:178155727-178155728	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs375618126	chr2:178155735-178155736	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs571175842	chr2:178155740-178155741	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs538492971	chr2:178155743-178155744	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs557113360	chr2:178155770-178155771	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	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
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

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178145000-178160200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:178145600-178160200	Weak transcription	Aorta	Aorta
3	chr2:178146600-178180400	Weak transcription	Esophagus	oesophagus
4	chr2:178147400-178160000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:178147400-178160200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:178147600-178160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:178147800-178163000	Weak transcription	Hela-S3	cervix
8	chr2:178147800-178187000	Weak transcription	HSMM	muscle
9	chr2:178147800-178190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:178148400-178155400	Weak transcription	Liver	Liver
11	chr2:178148800-178160000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:178148800-178160200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178149000-178160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178150200-178160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178150200-178160200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:178150400-178156400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:178151400-178157600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:178151400-178157600	Weak transcription	HepG2	liver
19	chr2:178151400-178167200	Weak transcription	Left Ventricle	heart
20	chr2:178151400-178179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:178152000-178171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:178152400-178160200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:178152800-178160200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:178152800-178178200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:178153200-178160200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:178153200-178160200	Weak transcription	Ovary	ovary
27	chr2:178153200-178160200	Weak transcription	Stomach Mucosa	stomach
28	chr2:178154400-178155200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:178154400-178155400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:178154400-178155600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:178154400-178155600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:178154400-178155600	Enhancers	Dnd41	blood
33	chr2:178154400-178155800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:178154400-178156400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:178154600-178155800	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:178154600-178156000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:178154600-178156400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:178154600-178156400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:178154800-178155200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:178154800-178155200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:178154800-178155200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:178154800-178155200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:178154800-178155200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:178154800-178155200	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:178154800-178155400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:178154800-178155400	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:178154800-178155600	Enhancers	Fetal Thymus	thymus
48	chr2:178154800-178155600	Enhancers	Thymus	Thymus
49	chr2:178154800-178155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:178154800-178155800	Enhancers	Monocytes-CD14+_RO01746	blood

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