Variant report

Variant	nsv979380
Chromosome Location	chr2:190507595-190520005
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190519115..190520884-chr2:190525577..190527873,2	K562	blood:
2	chr2:190445684..190447854-chr2:190508008..190509836,2	K562	blood:
3	chr2:190507159..190510939-chr2:190512994..190516291,4	K562	blood:
4	chr2:190507159..190510939-chr2:190512994..190516291,4	K562	blood:
5	chr2:190518831..190521733-chr2:190570442..190572727,2	MCF-7	breast:
6	chr2:190519452..190521192-chr2:190525972..190527826,2	MCF-7	breast:
7	chr2:190505910..190508491-chr2:190509501..190513680,4	MCF-7	breast:
8	chr2:190505910..190508491-chr2:190509501..190513680,4	MCF-7	breast:
9	chr2:190510736..190512617-chr2:190524632..190527538,2	MCF-7	breast:
10	chr2:190512609..190514902-chr2:190525994..190527624,2	K562	blood:
11	chr2:190515275..190516787-chr2:190520787..190523527,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138449	chromatin interactions
ENSG00000138381	chromatin interactions

Extended variants
information (count: 477 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6761923	chr2:190507599-190507600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139544057	chr2:190507706-190507707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144193305	chr2:190507729-190507730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548299967	chr2:190507773-190507774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578062172	chr2:190507812-190507813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191792617	chr2:190507818-190507819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538011924	chr2:190507850-190507851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183032124	chr2:190507883-190507884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571822149	chr2:190507895-190507896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372834901	chr2:190507979-190507980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6707560	chr2:190508047-190508048	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533775343	chr2:190508112-190508113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554081656	chr2:190508171-190508172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140438200	chr2:190508188-190508189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572086157	chr2:190508212-190508213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542659881	chr2:190508230-190508231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554757539	chr2:190508248-190508249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576491385	chr2:190508251-190508252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543223226	chr2:190508265-190508266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565103895	chr2:190508305-190508306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368737723	chr2:190508307-190508308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532381370	chr2:190508490-190508491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541310131	chr2:190508536-190508537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75528168	chr2:190508558-190508559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577189440	chr2:190508564-190508565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113947681	chr2:190508573-190508574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9646811	chr2:190508578-190508579	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs374540280	chr2:190508622-190508623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546021422	chr2:190508695-190508696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141425035	chr2:190508776-190508777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559948784	chr2:190508783-190508784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149486260	chr2:190508801-190508802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12693550	chr2:190508827-190508828	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs13428495	chr2:190508853-190508854	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185273893	chr2:190508898-190508899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114704448	chr2:190508920-190508921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556363365	chr2:190508990-190508991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111393677	chr2:190509005-190509006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554968617	chr2:190509030-190509031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs151289843	chr2:190509039-190509040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140786839	chr2:190509042-190509043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189790380	chr2:190509077-190509078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577106088	chr2:190509081-190509082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373965335	chr2:190509108-190509109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541265880	chr2:190509131-190509132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7563275	chr2:190509149-190509150	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574786392	chr2:190509229-190509230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201738686	chr2:190509264-190509265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373119396	chr2:190509269-190509270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113725641	chr2:190509330-190509331	Weak transcription	Chromatin interactive region	1 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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190506800-190522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190507000-190508000	Enhancers	Fetal Intestine Small	intestine
3	chr2:190511000-190512200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:190511400-190512200	Enhancers	Fetal Lung	lung
5	chr2:190512200-190513400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:190513400-190513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:190513400-190514200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:190513400-190514400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:190513400-190514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:190513400-190514400	Enhancers	NHDF-Ad	bronchial
11	chr2:190513400-190514800	Enhancers	NHLF	lung
12	chr2:190513600-190514000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:190513600-190514000	Enhancers	Osteobl	bone
14	chr2:190513600-190514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:190514000-190514400	Enhancers	HSMMtube	muscle
16	chr2:190514200-190514400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:190514800-190525600	Weak transcription	NHLF	lung
18	chr2:190519200-190520000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:190519400-190520200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:190519800-190520000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:190520000-190520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:190520000-190522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:190520000-190522400	Enhancers	Primary T cells from cord blood	blood
24	chr2:190520000-190525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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