Variant report

Variant	esv3332548
Chromosome Location	chr2:54167950-54168127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:
2	chr2:54160236..54161748-chr2:54167690..54170586,2	K562	blood:
3	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
4	chr2:54154156..54156922-chr2:54167334..54168957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068878	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115670318	chr2:54167969-54167970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553414542	chr2:54167989-54167990	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564040370	chr2:54167999-54168000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59690803	chr2:54168000-54168001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10164409	chr2:54168004-54168005	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs60158677	chr2:54168009-54168010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56992416	chr2:54168012-54168013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112193237	chr2:54168033-54168034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112767573	chr2:54168038-54168039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs56900376	chr2:54168046-54168047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148421212	chr2:54168054-54168055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58243220	chr2:54168055-54168056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575941233	chr2:54168064-54168065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397715475	chr2:54168065-54168066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56151149	chr2:54168074-54168075	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs57983562	chr2:54168077-54168078	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs59634282	chr2:54168089-54168090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs61078234	chr2:54168093-54168094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10178001	chr2:54168094-54168095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58198742	chr2:54168095-54168096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55950732	chr2:54168096-54168097	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10166829	chr2:54168097-54168098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7601205	chr2:54168099-54168100	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs58674569	chr2:54168101-54168102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7601206	chr2:54168107-54168108	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60105223	chr2:54168115-54168116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55778437	chr2:54168117-54168118	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs60034609	chr2:54168120-54168121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
8	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:54141400-54170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:54143000-54177600	Strong transcription	HepG2	liver
15	chr2:54143400-54176200	Strong transcription	HMEC	breast
16	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
20	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
22	chr2:54157000-54168000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:54158600-54173600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:54159200-54173200	Weak transcription	Gastric	stomach
25	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
26	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
27	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
28	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
29	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
30	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
31	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:54159400-54169800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:54160000-54173600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:54160800-54170600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:54160800-54172400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:54160800-54173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:54160800-54173600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:54160800-54173800	Weak transcription	Thymus	Thymus
40	chr2:54160800-54177200	Weak transcription	Lung	lung
41	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:54161400-54168400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:54161600-54172200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:54161600-54189800	Weak transcription	Ovary	ovary
45	chr2:54161800-54169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:54162000-54173200	Weak transcription	Psoas Muscle	Psoas
47	chr2:54162800-54170800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:54162800-54172200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:54162800-54172200	Weak transcription	HSMMtube	muscle
50	chr2:54162800-54173200	Weak transcription	H9 Cell Line	embryonic stem cell

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