Variant report

Variant	esv1812833
Chromosome Location	chr2:53744110-53765801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53763474..53765231-chr2:53774418..53775976,2	K562	blood:
2	chr2:53757085..53758831-chr2:53762624..53764865,2	K562	blood:
3	chr2:53764669..53766504-chr2:53770937..53773630,2	K562	blood:
4	chr2:53757085..53758831-chr2:53762624..53764865,2	K562	blood:

Extended variants
information (count: 930 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11887670	chr2:53744110-53744111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138670091	chr2:53744126-53744127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144281499	chr2:53744134-53744135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77509607	chr2:53744135-53744136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11892725	chr2:53744205-53744206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528016104	chr2:53744206-53744207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193067721	chr2:53744221-53744222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561248742	chr2:53744275-53744276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150719739	chr2:53744299-53744300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543962335	chr2:53744313-53744314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79497890	chr2:53744370-53744371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533223941	chr2:53744375-53744376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570170621	chr2:53744376-53744377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57574639	chr2:53744380-53744381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs55907222	chr2:53744444-53744445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569034689	chr2:53744493-53744494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533850612	chr2:53744513-53744514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185804901	chr2:53744528-53744529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56087803	chr2:53744531-53744532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61626061	chr2:53744542-53744543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139179114	chr2:53744545-53744546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536285710	chr2:53744571-53744572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189982915	chr2:53744673-53744674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59908169	chr2:53744742-53744743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72618657	chr2:53744824-53744825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370548931	chr2:53744832-53744833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559212711	chr2:53744845-53744846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572713965	chr2:53744864-53744865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541721403	chr2:53744879-53744880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373653989	chr2:53744889-53744890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78329948	chr2:53744895-53744896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530103890	chr2:53744896-53744897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540427413	chr2:53744961-53744962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182163408	chr2:53744970-53744971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77301293	chr2:53744992-53744993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185914518	chr2:53745000-53745001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551251456	chr2:53745023-53745024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371057095	chr2:53745054-53745055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527531211	chr2:53745110-53745111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551972638	chr2:53745123-53745124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116424014	chr2:53745125-53745126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535828438	chr2:53745128-53745129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115851976	chr2:53745130-53745131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67756598	chr2:53745162-53745163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538714335	chr2:53745171-53745172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558711940	chr2:53745189-53745190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572671594	chr2:53745192-53745193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535271790	chr2:53745200-53745201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555259052	chr2:53745225-53745226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575080283	chr2:53745228-53745229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53733400-53744800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:53737400-53747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:53738000-53744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:53740000-53744200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:53740000-53747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:53742400-53747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:53743400-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:53743400-53747800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:53743600-53747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:53743800-53746600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:53743800-53747000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:53744000-53744400	Enhancers	Brain Substantia Nigra	brain
13	chr2:53744200-53744400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:53744200-53745000	Enhancers	Brain Angular Gyrus	brain
15	chr2:53744200-53745000	Enhancers	Fetal Brain Female	brain
16	chr2:53744200-53745200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:53744200-53745400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:53744200-53745600	Enhancers	Fetal Brain Male	brain
19	chr2:53744400-53744800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:53744400-53747000	Weak transcription	Brain Substantia Nigra	brain
21	chr2:53744800-53745200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:53744800-53745400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:53745000-53745200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:53745000-53747000	Weak transcription	Fetal Brain Female	brain
25	chr2:53745200-53746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:53745200-53747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:53745200-53747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:53745400-53747000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:53745600-53747200	Weak transcription	Fetal Brain Male	brain
30	chr2:53746600-53746800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:53746600-53747600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:53746600-53748200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:53746800-53747000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:53746800-53747200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:53747000-53747200	Enhancers	Right Ventricle	heart
36	chr2:53747000-53747200	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:53747000-53748000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:53747000-53748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:53747000-53748000	Enhancers	Brain Anterior Caudate	brain
40	chr2:53747000-53748000	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:53747000-53748000	Enhancers	Fetal Brain Female	brain
42	chr2:53747000-53748200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:53747000-53748200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:53747000-53748200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:53747000-53748200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:53747000-53748200	Enhancers	Pancreas	Pancrea
47	chr2:53747000-53748200	Enhancers	HSMMtube	muscle
48	chr2:53747000-53748400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:53747000-53748400	Enhancers	Brain Angular Gyrus	brain
50	chr2:53747000-53748400	Enhancers	Brain Substantia Nigra	brain

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