Variant report

Variant	nsv975621
Chromosome Location	chr12:1477974-1481966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1477160..1479008-chr12:1480395..1483486,3	K562	blood:
2	chr12:1478838..1481812-chr12:1484445..1488758,4	K562	blood:
3	chr12:1474380..1476005-chr12:1477724..1479472,2	MCF-7	breast:
4	chr12:1477160..1479008-chr12:1480395..1483486,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT5B-5	chr12:1479918-1480203	l_578_NR_028415
2	lnc-WNT5B-5	chr12:1481894-1483851	l_578_NR_028415

Extended variants
information (count: 194 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187235667	chr12:1477991-1477992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369446164	chr12:1478007-1478008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145004073	chr12:1478067-1478068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572041421	chr12:1478076-1478077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542389537	chr12:1478090-1478091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12314845	chr12:1478103-1478104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138708164	chr12:1478104-1478105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149331723	chr12:1478151-1478152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199807855	chr12:1478224-1478225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374639662	chr12:1478255-1478256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34460399	chr12:1478270-1478271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564679743	chr12:1478274-1478275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144598315	chr12:1478288-1478289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552816935	chr12:1478294-1478295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541069721	chr12:1478296-1478297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560752160	chr12:1478307-1478308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528020435	chr12:1478315-1478316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549570480	chr12:1478330-1478331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567867111	chr12:1478335-1478336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190555837	chr12:1478358-1478359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148049421	chr12:1478367-1478368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577520779	chr12:1478442-1478443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571698929	chr12:1478451-1478452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544668202	chr12:1478459-1478460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76689820	chr12:1478465-1478466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181866075	chr12:1478480-1478481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376421037	chr12:1478514-1478515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143632431	chr12:1478523-1478524	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563341181	chr12:1478547-1478548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558252714	chr12:1478563-1478564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11061714	chr12:1478570-1478571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11061715	chr12:1478590-1478591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576188220	chr12:1478610-1478611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559078030	chr12:1478613-1478614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558609023	chr12:1478619-1478620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576900273	chr12:1478629-1478630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541006415	chr12:1478638-1478639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544161692	chr12:1478672-1478673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76044157	chr12:1478693-1478694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147185208	chr12:1478724-1478725	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs543355025	chr12:1478728-1478729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140416160	chr12:1478729-1478730	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562226357	chr12:1478730-1478731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11061716	chr12:1478732-1478733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547821518	chr12:1478748-1478749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201266619	chr12:1478761-1478762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73595982	chr12:1478762-1478763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565356480	chr12:1478784-1478785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532489896	chr12:1478837-1478838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144287561	chr12:1478854-1478855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
7	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
9	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
10	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:1460200-1478600	Weak transcription	Psoas Muscle	Psoas
13	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:1461400-1480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:1461400-1483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:1461600-1481600	Weak transcription	HMEC	breast
19	chr12:1464800-1478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:1464800-1478600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:1465400-1479800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:1465400-1489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:1466600-1483000	Weak transcription	Fetal Stomach	stomach
24	chr12:1466800-1483200	Weak transcription	NHLF	lung
25	chr12:1467400-1481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:1470000-1478400	Weak transcription	HSMMtube	muscle
27	chr12:1470000-1482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:1470400-1481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:1470800-1482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:1471000-1480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:1471800-1487200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:1472000-1487800	Weak transcription	K562	blood
33	chr12:1473200-1481000	Weak transcription	Right Atrium	heart
34	chr12:1473200-1500400	Weak transcription	Right Ventricle	heart
35	chr12:1473400-1485000	Weak transcription	Left Ventricle	heart
36	chr12:1474000-1483800	Weak transcription	Primary B cells from cord blood	blood
37	chr12:1474200-1480400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:1475200-1481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:1475200-1482200	Weak transcription	NHEK	skin
40	chr12:1475600-1496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:1475800-1478000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:1476200-1488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:1476400-1478000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:1476600-1479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:1476800-1478800	Enhancers	Adipose Nuclei	Adipose
46	chr12:1476800-1479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:1477000-1478000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:1477000-1478600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:1477000-1478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:1477000-1478600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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