Variant report

Variant	nsv10205
Chromosome Location	chr2:183759477-183762510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183758074..183761061-chr2:183762442..183764748,3	MCF-7	breast:
2	chr2:183757338..183762208-chr2:183763229..183766079,6	K562	blood:
3	chr2:183759211..183762247-chr2:183762468..183766311,3	K562	blood:
4	chr2:183758074..183761061-chr2:183762442..183764748,3	MCF-7	breast:
5	chr2:183759211..183762247-chr2:183762468..183766311,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190977040	chr2:183759499-183759500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557902899	chr2:183759501-183759502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578033886	chr2:183759532-183759533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376162250	chr2:183759533-183759534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60677293	chr2:183759614-183759615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563062766	chr2:183759623-183759624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573830959	chr2:183759640-183759641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542863647	chr2:183759646-183759647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368643026	chr2:183759657-183759658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183263898	chr2:183759767-183759768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368451441	chr2:183759768-183759769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573087931	chr2:183759781-183759782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544966970	chr2:183759810-183759811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187976876	chr2:183759814-183759815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545273081	chr2:183759833-183759834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530619270	chr2:183759839-183759840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3924496	chr2:183759841-183759842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538765565	chr2:183759870-183759871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560652963	chr2:183759925-183759926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529419099	chr2:183760019-183760020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192146607	chr2:183760024-183760025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115689731	chr2:183760065-183760066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184512299	chr2:183760105-183760106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565898406	chr2:183760147-183760148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541533334	chr2:183760159-183760160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528812895	chr2:183760181-183760182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551752061	chr2:183760183-183760184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369912563	chr2:183760262-183760263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376654777	chr2:183760265-183760266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537455705	chr2:183760272-183760273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557460857	chr2:183760295-183760296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567773688	chr2:183760336-183760337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4666868	chr2:183760337-183760338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552919086	chr2:183760344-183760345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148810769	chr2:183760346-183760347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143508025	chr2:183760360-183760361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558823745	chr2:183760371-183760372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563672353	chr2:183760455-183760456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370973771	chr2:183760492-183760493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543827885	chr2:183760540-183760541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560616007	chr2:183760588-183760589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576246967	chr2:183760628-183760629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529775392	chr2:183760655-183760656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543186659	chr2:183760782-183760783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147998376	chr2:183760833-183760834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187934552	chr2:183760842-183760843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141674337	chr2:183760846-183760847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571927473	chr2:183760848-183760849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7606391	chr2:183760854-183760855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116751458	chr2:183760905-183760906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183752400-183772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:183755000-183772200	Weak transcription	HSMM	muscle
3	chr2:183756000-183760800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183756600-183761600	Weak transcription	NHDF-Ad	bronchial
5	chr2:183757000-183773800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:183758400-183759600	Enhancers	Aorta	Aorta
8	chr2:183758400-183760200	Enhancers	Placenta	Placenta
9	chr2:183758600-183759600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183758600-183762200	Weak transcription	NHLF	lung
11	chr2:183758600-183763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:183758800-183759800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:183758800-183759800	Enhancers	Osteobl	bone
14	chr2:183758800-183760000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183758800-183760000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:183758800-183771600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:183759000-183772000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:183759000-183774000	Weak transcription	Left Ventricle	heart
19	chr2:183759200-183759600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:183759200-183766600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:183759200-183772200	Weak transcription	Fetal Intestine Small	intestine
22	chr2:183759200-183775000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:183759200-183775200	Weak transcription	Pancreas	Pancrea
24	chr2:183759400-183759600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:183759400-183759600	Enhancers	HSMMtube	muscle
26	chr2:183759600-183759800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:183759600-183760800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:183759600-183774400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183759600-183777000	Weak transcription	HSMMtube	muscle
30	chr2:183759800-183761800	Weak transcription	Osteobl	bone
31	chr2:183759800-183771800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:183759800-183774000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:183760000-183761200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:183760000-183774000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183760200-183763600	Weak transcription	Placenta	Placenta
36	chr2:183760200-183769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:183760800-183762800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:183761000-183768600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:183761200-183762400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:183761600-183762600	Enhancers	NHDF-Ad	bronchial
41	chr2:183761800-183762200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:183761800-183762400	Enhancers	Osteobl	bone
43	chr2:183762000-183762400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:183762000-183778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:183762200-183762600	Enhancers	NHLF	lung
46	chr2:183762200-183774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:183762400-183772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:183762400-183775000	Weak transcription	Osteobl	bone
49	chr2:183762400-183775200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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