Variant report

Variant	nsv573
Chromosome Location	chr12:1560167-1604539
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:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1585013..1587408-chr12:1589984..1592160,3	K562	blood:
2	chr12:1570379..1574393-chr12:1574873..1580232,6	K562	blood:
3	chr12:1598160..1599823-chr12:1609239..1611026,2	K562	blood:
4	chr12:1590718..1593050-chr12:1598985..1600530,2	MCF-7	breast:
5	chr12:1565787..1568238-chr12:1569679..1572728,3	K562	blood:
6	chr12:1569039..1571648-chr12:1571859..1575051,3	K562	blood:
7	chr12:1585013..1587408-chr12:1589984..1592160,3	K562	blood:
8	chr12:1577937..1578888-chr12:1653877..1654562,2	MCF-7	breast:
9	chr12:1576576..1578608-chr12:1579584..1581182,2	MCF-7	breast:
10	chr12:1570379..1574393-chr12:1574873..1580232,6	K562	blood:
11	chr12:1555691..1558581-chr12:1571205..1573342,2	K562	blood:
12	chr12:1592609..1594282-chr12:1599555..1601526,2	K562	blood:
13	chr12:1603741..1607368-chr12:1607408..1611728,5	K562	blood:
14	chr12:1588629..1590747-chr12:1599822..1601479,2	K562	blood:
15	chr12:1571885..1573568-chr12:1607878..1609868,2	K562	blood:
16	chr12:1588629..1590747-chr12:1599822..1601479,2	K562	blood:
17	chr12:1574896..1578285-chr12:1580467..1583397,5	K562	blood:
18	chr12:1590718..1593050-chr12:1598985..1600530,2	MCF-7	breast:
19	chr12:1576576..1578608-chr12:1579584..1581182,2	MCF-7	breast:
20	chr12:1565787..1568238-chr12:1569679..1572728,3	K562	blood:
21	chr12:1572175..1574157-chr12:1679717..1682384,2	K562	blood:
22	chr12:1571396..1573540-chr12:1576737..1578978,2	K562	blood:
23	chr12:1603741..1607368-chr12:1607408..1611542,6	K562	blood:
24	chr12:1574896..1578788-chr12:1580467..1583397,5	K562	blood:
25	chr12:1574896..1578788-chr12:1580467..1583397,5	K562	blood:
26	chr12:1574896..1578285-chr12:1580467..1583397,5	K562	blood:
27	chr12:1571396..1573540-chr12:1576737..1578978,2	K562	blood:
28	chr12:1592609..1594282-chr12:1599555..1601526,2	K562	blood:
29	chr12:1569039..1571648-chr12:1571859..1575051,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNK1-3	chr12:1603215-1605096	NONHSAT025395

No data

Extended variants
information (count: 1930 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1930 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193047566	chr12:1560202-1560203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146584367	chr12:1560206-1560207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567745869	chr12:1560213-1560214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544631671	chr12:1560217-1560218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184872501	chr12:1560261-1560262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538493570	chr12:1560264-1560265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553442264	chr12:1560322-1560323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571819013	chr12:1560332-1560333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141287289	chr12:1560337-1560338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73597998	chr12:1560371-1560372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544555862	chr12:1560485-1560486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540868860	chr12:1560507-1560508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186932763	chr12:1560512-1560513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12300475	chr12:1560554-1560555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563420707	chr12:1560573-1560574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191424822	chr12:1560591-1560592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560522538	chr12:1560592-1560593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143627458	chr12:1560594-1560595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549365035	chr12:1560604-1560605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151245770	chr12:1560609-1560610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28676387	chr12:1560634-1560635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58649158	chr12:1560641-1560642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538268505	chr12:1560648-1560649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115923428	chr12:1560650-1560651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571559333	chr12:1560668-1560669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530490389	chr12:1560669-1560670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150377097	chr12:1560674-1560675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560832004	chr12:1560676-1560677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114621486	chr12:1560688-1560689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532171956	chr12:1560719-1560720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554677259	chr12:1560732-1560733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376602369	chr12:1560748-1560749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575943593	chr12:1560755-1560756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543443399	chr12:1560762-1560763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57172674	chr12:1560770-1560771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578250292	chr12:1560814-1560815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528057721	chr12:1560833-1560834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77577788	chr12:1560879-1560880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560684637	chr12:1560887-1560888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138065167	chr12:1560901-1560902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549480056	chr12:1560920-1560921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183596284	chr12:1560942-1560943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559787776	chr12:1560958-1560959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531598536	chr12:1560986-1560987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367751028	chr12:1561043-1561044	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189512966	chr12:1561064-1561065	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533690882	chr12:1561069-1561070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571405865	chr12:1561070-1561071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538561542	chr12:1561084-1561085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73597999	chr12:1561115-1561116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ewing''s sarcoma	19144156	CNVD

Chromatin state (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:1531400-1574200	Weak transcription	Thymus	Thymus
3	chr12:1532400-1581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:1544800-1582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:1545000-1583000	Weak transcription	HepG2	liver
6	chr12:1545400-1566000	Weak transcription	Gastric	stomach
7	chr12:1545400-1570600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:1546000-1564200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:1546000-1582000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:1546600-1583200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:1552200-1560400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:1552600-1582600	Weak transcription	A549	lung
13	chr12:1552800-1563000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:1552800-1572200	Weak transcription	Fetal Brain Female	brain
15	chr12:1552800-1598000	Weak transcription	Esophagus	oesophagus
16	chr12:1553000-1566000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:1553000-1567000	Weak transcription	Psoas Muscle	Psoas
18	chr12:1553200-1562800	Weak transcription	Dnd41	blood
19	chr12:1553200-1565800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:1553400-1561600	Weak transcription	Fetal Heart	heart
21	chr12:1553400-1572800	Weak transcription	Fetal Kidney	kidney
22	chr12:1553400-1582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:1553600-1561200	Weak transcription	HSMMtube	muscle
24	chr12:1553600-1567000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1553600-1568200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:1553600-1572400	Weak transcription	Right Atrium	heart
27	chr12:1553600-1581800	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:1553800-1567000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:1554000-1566000	Weak transcription	HSMM	muscle
30	chr12:1554000-1566800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:1554000-1582600	Weak transcription	Ovary	ovary
32	chr12:1554200-1572200	Weak transcription	Aorta	Aorta
33	chr12:1554200-1582600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:1554400-1566800	Weak transcription	NHEK	skin
35	chr12:1554600-1567000	Weak transcription	HMEC	breast
36	chr12:1554800-1574800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:1555200-1562000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:1555200-1562200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:1555200-1566600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:1555200-1566800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:1555200-1584200	Weak transcription	Spleen	Spleen
42	chr12:1555400-1562400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:1555400-1566400	Weak transcription	Osteobl	bone
44	chr12:1555400-1567200	Weak transcription	Right Ventricle	heart
45	chr12:1555400-1582600	Weak transcription	Placenta	Placenta
46	chr12:1555400-1582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:1555600-1566400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:1555800-1563200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:1555800-1581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:1556000-1572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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