Variant report

Variant	nsv818131
Chromosome Location	chr3:24109112-24113697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24040191..24040792-chr3:24110416..24111055,2	MCF-7	breast:
2	chr3:24110053..24112130-chr3:24113190..24114976,2	MCF-7	breast:
3	chr3:24110053..24112130-chr3:24113190..24114976,2	MCF-7	breast:
4	chr3:24110281..24111164-chr3:24722093..24722774,3	K562	blood:
5	chr3:23957818..23960523-chr3:24109243..24112140,2	MCF-7	breast:
6	chr3:24108403..24110217-chr3:24304127..24305953,2	K562	blood:
7	chr3:24110646..24111147-chr3:24190699..24191477,2	K562	blood:

Variant related genes	Relation type
ENSG00000174748	chromatin interactions
ENSG00000197885	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7612158	chr3:24109112-24109113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549277796	chr3:24109130-24109131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567993948	chr3:24109141-24109142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186152198	chr3:24109144-24109145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550238786	chr3:24109154-24109155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571676309	chr3:24109182-24109183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560202913	chr3:24109192-24109193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538607456	chr3:24109286-24109287	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554262075	chr3:24109296-24109297	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369668920	chr3:24109310-24109311	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566003624	chr3:24109458-24109459	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192252947	chr3:24109465-24109466	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536477599	chr3:24109474-24109475	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554318844	chr3:24109475-24109476	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575978802	chr3:24109515-24109516	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35355995	chr3:24109518-24109519	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150370652	chr3:24109527-24109528	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529392173	chr3:24109546-24109547	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138170879	chr3:24109560-24109561	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576434580	chr3:24109598-24109599	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149143331	chr3:24109612-24109613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559416028	chr3:24109623-24109624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9990311	chr3:24109625-24109626	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371385579	chr3:24109706-24109707	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543233916	chr3:24109708-24109709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376438161	chr3:24109709-24109710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6765461	chr3:24109748-24109749	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550498486	chr3:24109760-24109761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571940781	chr3:24109783-24109784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113832811	chr3:24109826-24109827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139146197	chr3:24109830-24109831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113024196	chr3:24109847-24109848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7635612	chr3:24109875-24109876	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143065215	chr3:24109929-24109930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569526712	chr3:24109961-24109962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs72628142	chr3:24109966-24109967	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147520444	chr3:24109978-24109979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376919315	chr3:24110050-24110051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183925001	chr3:24110064-24110065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138472816	chr3:24110112-24110113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs114137314	chr3:24110113-24110114	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550622697	chr3:24110145-24110146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185913133	chr3:24110170-24110171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541568996	chr3:24110189-24110190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142022208	chr3:24110260-24110261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190726394	chr3:24110279-24110280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182544939	chr3:24110297-24110298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565609971	chr3:24110331-24110332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187099914	chr3:24110389-24110390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547813644	chr3:24110437-24110438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24101400-24119200	Weak transcription	Aorta	Aorta
2	chr3:24102200-24109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24102200-24110400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:24105000-24110200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:24108800-24109200	Enhancers	K562	blood
6	chr3:24108800-24109400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:24108800-24109400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:24108800-24109400	Enhancers	NHDF-Ad	bronchial
9	chr3:24108800-24115200	Weak transcription	Right Ventricle	heart
10	chr3:24109000-24109200	Enhancers	HSMM	muscle
11	chr3:24109200-24109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:24109400-24110400	Weak transcription	HSMM	muscle
13	chr3:24110200-24111000	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:24110400-24111000	Enhancers	HSMM	muscle
15	chr3:24110400-24111600	Enhancers	Colon Smooth Muscle	Colon

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