Variant report

Variant	nsv899488
Chromosome Location	chr12:104123543-104140517
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:1)
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	chr12:104026119..104026638-chr12:104139773..104140466,2	MCF-7	breast:
2	chr12:104136425..104139178-chr12:104152624..104154639,2	K562	blood:
3	chr12:104134942..104137078-chr12:104139812..104142244,2	MCF-7	breast:
4	chr12:104128241..104130888-chr12:104131454..104134475,3	K562	blood:
5	chr12:104026123..104026928-chr12:104138981..104139804,2	MCF-7	breast:
6	chr12:104134942..104137078-chr12:104139812..104142244,2	MCF-7	breast:
7	chr12:104020272..104021047-chr12:104139685..104140350,2	MCF-7	breast:
8	chr12:104126083..104127823-chr12:104129253..104131944,2	K562	blood:
9	chr12:104126083..104127823-chr12:104129253..104131944,2	K562	blood:
10	chr12:104128241..104130888-chr12:104131454..104134475,3	K562	blood:
11	chr12:104131640..104133460-chr12:104142100..104144615,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NT5DC3-1	chr12:104140093-104140417	ENSG00000257681.1

No data

Extended variants
information (count: 749 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10861083	chr12:104123543-104123544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190912884	chr12:104123548-104123549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541351621	chr12:104123574-104123575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369556717	chr12:104123580-104123581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564016944	chr12:104123601-104123602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577438976	chr12:104123612-104123613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538924129	chr12:104123670-104123671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538197868	chr12:104123708-104123709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529172839	chr12:104123723-104123724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200642183	chr12:104123853-104123854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375886239	chr12:104123878-104123879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372504761	chr12:104123879-104123880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201397886	chr12:104123898-104123899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559343507	chr12:104123899-104123900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141025187	chr12:104123900-104123901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10778281	chr12:104123911-104123912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568853262	chr12:104123917-104123918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552127940	chr12:104123923-104123924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200802359	chr12:104123924-104123925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138760698	chr12:104123938-104123939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368260387	chr12:104123942-104123943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372554369	chr12:104123981-104123982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17034433	chr12:104124018-104124019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4981042	chr12:104124061-104124062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369332132	chr12:104124063-104124064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144316323	chr12:104124102-104124103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536799875	chr12:104124103-104124104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377641187	chr12:104124158-104124159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566886661	chr12:104124181-104124182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538620165	chr12:104124227-104124228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183227053	chr12:104124259-104124260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140150584	chr12:104124384-104124385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549958168	chr12:104124421-104124422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369825910	chr12:104124431-104124432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188028295	chr12:104124440-104124441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76367132	chr12:104124486-104124487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192259903	chr12:104124487-104124488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568592512	chr12:104124584-104124585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573748696	chr12:104124586-104124587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142242730	chr12:104124653-104124654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146400733	chr12:104124708-104124709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11612532	chr12:104124723-104124724	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139075131	chr12:104124781-104124782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565585179	chr12:104124820-104124821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554413259	chr12:104124821-104124822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183383691	chr12:104124834-104124835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188038726	chr12:104124847-104124848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs202226481	chr12:104124848-104124849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74746048	chr12:104124856-104124857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369455846	chr12:104124864-104124865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104118400-104124800	Weak transcription	HSMMtube	muscle
2	chr12:104123000-104124600	Weak transcription	Spleen	Spleen
3	chr12:104124600-104125200	ZNF genes & repeats	Spleen	Spleen
4	chr12:104124800-104125000	ZNF genes & repeats	HSMMtube	muscle
5	chr12:104125000-104125200	ZNF genes & repeats	Aorta	Aorta
6	chr12:104125200-104126200	Weak transcription	Spleen	Spleen
7	chr12:104125200-104138800	Weak transcription	Aorta	Aorta
8	chr12:104126200-104128400	Strong transcription	Spleen	Spleen
9	chr12:104128400-104138800	Weak transcription	Spleen	Spleen
10	chr12:104129600-104131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:104130200-104130600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104130200-104130800	Enhancers	NHEK	skin
13	chr12:104130600-104135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:104130800-104135800	Weak transcription	NHEK	skin
15	chr12:104131000-104136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:104131800-104132000	Enhancers	A549	lung
17	chr12:104132600-104132800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:104132800-104136200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:104133000-104136000	Weak transcription	A549	lung
20	chr12:104133400-104133800	Enhancers	Fetal Intestine Large	intestine
21	chr12:104133800-104135800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:104135400-104136200	Enhancers	Fetal Muscle Trunk	muscle
23	chr12:104135600-104136400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:104135800-104136000	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:104135800-104136000	Enhancers	NHEK	skin
26	chr12:104135800-104136200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:104135800-104136200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:104135800-104136200	Enhancers	HMEC	breast
29	chr12:104135800-104136200	Enhancers	NHDF-Ad	bronchial
30	chr12:104135800-104136400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:104135800-104136600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104135800-104136800	Enhancers	Fetal Heart	heart
33	chr12:104135800-104137200	Enhancers	Fetal Intestine Large	intestine
34	chr12:104136000-104136200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:104136000-104136200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:104136000-104136200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:104136000-104136200	Enhancers	Brain Angular Gyrus	brain
38	chr12:104136000-104136200	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:104136000-104136200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:104136000-104136200	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr12:104136000-104136200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:104136000-104136200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:104136000-104136400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:104136000-104136400	Enhancers	Liver	Liver
45	chr12:104136000-104136400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:104136000-104136400	Enhancers	Fetal Brain Male	brain
47	chr12:104136000-104136400	Enhancers	Gastric	stomach
48	chr12:104136000-104136400	Enhancers	Left Ventricle	heart
49	chr12:104136000-104136400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:104136000-104136400	Enhancers	Right Atrium	heart

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