Variant report

Variant	esv1837855
Chromosome Location	chr2:183452578-183499313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
2	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
3	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
4	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
5	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:
6	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
7	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:
8	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
9	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:
10	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
11	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
12	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
13	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
14	chr2:183497857..183499568-chr2:183500564..183503369,2	K562	blood:

No data

Extended variants
information (count: 1743 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1743 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4146244	chr2:183452578-183452579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188691701	chr2:183452612-183452613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557244763	chr2:183452646-183452647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4146243	chr2:183452698-183452699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78134591	chr2:183452756-183452757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192169077	chr2:183452776-183452777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551756223	chr2:183452886-183452887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11887659	chr2:183452901-183452902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183440488	chr2:183452909-183452910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80031145	chr2:183452948-183452949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550708049	chr2:183452949-183452950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75605366	chr2:183452971-183452972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536075344	chr2:183452973-183452974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546455494	chr2:183452978-183452979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377620311	chr2:183452981-183452982	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548537636	chr2:183453001-183453002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375682867	chr2:183453016-183453017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566449337	chr2:183453023-183453024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538207157	chr2:183453037-183453038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34533037	chr2:183453070-183453071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558530661	chr2:183453113-183453114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575170645	chr2:183453116-183453117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537925687	chr2:183453134-183453135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs956831	chr2:183453173-183453174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12474575	chr2:183453187-183453188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186632876	chr2:183453220-183453221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs956830	chr2:183453223-183453224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144385188	chr2:183453237-183453238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs955038	chr2:183453245-183453246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs191437277	chr2:183453283-183453284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184149373	chr2:183453289-183453290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573491232	chr2:183453307-183453308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367554497	chr2:183453315-183453316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4274567	chr2:183453370-183453371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4274568	chr2:183453397-183453398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545418605	chr2:183453415-183453416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565280684	chr2:183453463-183453464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6752224	chr2:183453469-183453470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550644783	chr2:183453497-183453498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561062009	chr2:183453499-183453500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5022567	chr2:183453508-183453509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546390162	chr2:183453536-183453537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78602843	chr2:183453541-183453542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2368330	chr2:183453542-183453543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192868703	chr2:183453546-183453547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568822004	chr2:183453580-183453581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185388322	chr2:183453588-183453589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190059835	chr2:183453628-183453629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13395301	chr2:183453660-183453661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557158731	chr2:183453688-183453689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183449800-183452600	Weak transcription	Fetal Heart	heart
2	chr2:183451000-183453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:183451000-183453200	Enhancers	HSMMtube	muscle
4	chr2:183451000-183453400	Enhancers	NHDF-Ad	bronchial
5	chr2:183451200-183453000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:183451200-183453000	Enhancers	HSMM	muscle
7	chr2:183451200-183453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183451600-183453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:183451600-183453400	Enhancers	NHLF	lung
10	chr2:183451800-183453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:183451800-183453400	Enhancers	NH-A	brain
12	chr2:183451800-183453400	Enhancers	Osteobl	bone
13	chr2:183452000-183456200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:183452000-183457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:183452000-183457800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:183452200-183452600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:183452200-183456400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:183452200-183456600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:183452200-183457800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:183452400-183452600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183452400-183452600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:183452600-183452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:183452600-183452800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:183452600-183452800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:183452600-183452800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:183452600-183453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:183452600-183453000	Enhancers	Fetal Heart	heart
28	chr2:183452600-183453000	Enhancers	HMEC	breast
29	chr2:183452600-183453200	Enhancers	NHEK	skin
30	chr2:183452800-183453000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:183452800-183453000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:183452800-183456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:183452800-183456800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:183453000-183453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183453000-183453400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:183453000-183456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:183453000-183456000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:183453000-183457600	Weak transcription	HMEC	breast
39	chr2:183453000-183457600	Weak transcription	HSMM	muscle
40	chr2:183453000-183457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:183453200-183456000	Weak transcription	HSMMtube	muscle
42	chr2:183453200-183457600	Weak transcription	NHEK	skin
43	chr2:183453200-183457800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:183453400-183457200	Weak transcription	NHLF	lung
45	chr2:183453400-183457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:183453400-183457400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:183453400-183457400	Weak transcription	NHDF-Ad	bronchial
48	chr2:183453400-183457400	Weak transcription	Osteobl	bone
49	chr2:183453400-183457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:183453400-183457600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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