Variant report

Variant	esv3444221
Chromosome Location	chr2:54594048-54598146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
2	chr2:54590550..54594097-chr2:54603706..54606382,3	K562	blood:
3	chr2:54588749..54591238-chr2:54595941..54597733,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147337699	chr2:54594116-54594117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113710142	chr2:54594121-54594122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367964809	chr2:54594149-54594150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558604190	chr2:54594249-54594250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116652324	chr2:54594290-54594291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367753771	chr2:54594306-54594307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370120488	chr2:54594312-54594313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561089533	chr2:54594339-54594340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183922618	chr2:54594377-54594378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77506865	chr2:54594387-54594388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554907502	chr2:54594434-54594435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189216889	chr2:54594454-54594455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116486107	chr2:54594504-54594505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562815232	chr2:54594513-54594514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112127825	chr2:54594599-54594600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531521234	chr2:54594608-54594609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538642100	chr2:54594656-54594657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545253437	chr2:54594671-54594672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371603063	chr2:54594683-54594684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117235113	chr2:54594707-54594708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201566950	chr2:54594710-54594711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527348190	chr2:54594714-54594715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547186375	chr2:54594777-54594778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552191944	chr2:54594788-54594789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565817481	chr2:54594807-54594808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567207076	chr2:54594827-54594828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193092436	chr2:54594862-54594863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4459768	chr2:54594875-54594876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs185391119	chr2:54594912-54594913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570041057	chr2:54594913-54594914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573794663	chr2:54594915-54594916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536114736	chr2:54594989-54594990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556421262	chr2:54595026-54595027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566149643	chr2:54595038-54595039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188883120	chr2:54595075-54595076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554808682	chr2:54595087-54595088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574763600	chr2:54595090-54595091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543875433	chr2:54595142-54595143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368163346	chr2:54595154-54595155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141034430	chr2:54595159-54595160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144778803	chr2:54595210-54595211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191751267	chr2:54595262-54595263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545005177	chr2:54595267-54595268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183881253	chr2:54595372-54595373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188169133	chr2:54595420-54595421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377085442	chr2:54595473-54595474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560860278	chr2:54595487-54595488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180722010	chr2:54595494-54595495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185927151	chr2:54595545-54595546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372103630	chr2:54595551-54595552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54587600-54606200	Weak transcription	Fetal Kidney	kidney
2	chr2:54590600-54595600	Weak transcription	Left Ventricle	heart
3	chr2:54592400-54594200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54593600-54595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:54593800-54594600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:54593800-54595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54594200-54594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:54594600-54595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:54594600-54595800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:54594600-54598400	Weak transcription	Pancreas	Pancrea
11	chr2:54595200-54595600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:54595200-54596000	Enhancers	Adipose Nuclei	Adipose
13	chr2:54595600-54595800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54595600-54596000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:54595600-54596000	ZNF genes & repeats	Left Ventricle	heart
16	chr2:54595600-54596200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr2:54595600-54596400	ZNF genes & repeats	Aorta	Aorta
18	chr2:54595800-54596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:54595800-54597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:54596000-54597200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:54596000-54597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:54596000-54597800	Weak transcription	Left Ventricle	heart
23	chr2:54596000-54597800	Enhancers	HSMMtube	muscle
24	chr2:54596200-54598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:54596400-54597800	Weak transcription	Aorta	Aorta
26	chr2:54596800-54600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:54597000-54599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:54597200-54601400	Enhancers	Adipose Nuclei	Adipose
29	chr2:54597400-54598600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54597600-54598200	Enhancers	Fetal Lung	lung
31	chr2:54597600-54598600	Enhancers	NHLF	lung
32	chr2:54597600-54599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:54597600-54599200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:54597600-54599200	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:54597600-54599800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:54597600-54600000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:54597800-54598000	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr2:54597800-54598200	Enhancers	HSMM	muscle
39	chr2:54597800-54598400	Enhancers	HUVEC	blood vessel
40	chr2:54597800-54598600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:54597800-54598600	Enhancers	Aorta	Aorta
42	chr2:54597800-54598600	Enhancers	Hela-S3	cervix
43	chr2:54597800-54598600	Flanking Active TSS	HSMMtube	muscle
44	chr2:54597800-54598800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:54597800-54599000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:54597800-54599000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:54597800-54599000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:54597800-54599000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:54597800-54599000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:54597800-54599000	Enhancers	Esophagus	oesophagus

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