Variant report

Variant	nsv541614
Chromosome Location	chr12:118965736-119014468
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:
2	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:
3	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
4	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
5	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:
6	chr12:118964692..118966723-chr5:177630816..177632690,2	MCF-7	breast:
7	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197451	chromatin interactions

Extended variants
information (count: 1470 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1470 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138963609	chr12:118965747-118965748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545455164	chr12:118965777-118965778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565365764	chr12:118965788-118965789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527870502	chr12:118965797-118965798	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541399124	chr12:118965835-118965836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571846006	chr12:118965907-118965908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187273809	chr12:118965921-118965922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142150569	chr12:118965946-118965947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549373572	chr12:118965978-118965979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146321566	chr12:118965996-118965997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12312974	chr12:118965997-118965998	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114214151	chr12:118966030-118966031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78190396	chr12:118966084-118966085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572898210	chr12:118966107-118966108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61119404	chr12:118966117-118966118	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192153476	chr12:118966167-118966168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79180341	chr12:118966174-118966175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541450967	chr12:118966196-118966197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543279729	chr12:118966197-118966198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568367396	chr12:118966215-118966216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183916033	chr12:118966240-118966241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138339686	chr12:118966241-118966242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550985642	chr12:118966247-118966248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543247623	chr12:118966265-118966266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558997175	chr12:118966271-118966272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565125677	chr12:118966290-118966291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577045492	chr12:118966294-118966295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572597894	chr12:118966302-118966303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550048340	chr12:118966314-118966315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112895943	chr12:118966333-118966334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187105327	chr12:118966335-118966336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561104482	chr12:118966347-118966348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541343152	chr12:118966401-118966402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559705084	chr12:118966512-118966513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376974344	chr12:118966518-118966519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191259827	chr12:118966589-118966590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115277489	chr12:118966601-118966602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575166978	chr12:118966833-118966834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532118169	chr12:118966849-118966850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184502001	chr12:118966861-118966862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565767732	chr12:118966883-118966884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528129414	chr12:118966888-118966889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548375734	chr12:118966983-118966984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568228828	chr12:118967020-118967021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372307325	chr12:118967042-118967043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372597064	chr12:118967044-118967045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150610619	chr12:118967058-118967059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189503438	chr12:118967077-118967078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139714458	chr12:118967111-118967112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79839163	chr12:118967120-118967121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118958000-118978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118964400-118965800	Enhancers	NHDF-Ad	bronchial
3	chr12:118964600-118970000	Weak transcription	Ovary	ovary
4	chr12:118964800-118974000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:118965000-118965800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:118965000-118969800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:118965600-118965800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:118965800-118974000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:118966600-118966800	Weak transcription	NHDF-Ad	bronchial
10	chr12:118969600-118970200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:118969800-118970000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr12:118969800-118970400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:118970000-118970200	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:118970000-118970400	Enhancers	Ovary	ovary
15	chr12:118970200-118970400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:118970200-118970400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr12:118970200-118970600	Enhancers	Colon Smooth Muscle	Colon
18	chr12:118970400-118970600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:118970400-118970600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:118970400-118974000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:118970400-118974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:118970400-118975000	Weak transcription	Ovary	ovary
23	chr12:118970400-118976000	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:118970600-118972800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:118970600-118974200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:118970600-118975600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:118971200-118972000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:118971400-118971600	Enhancers	Right Atrium	heart
29	chr12:118971400-118971800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:118971400-118971800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:118971600-118978600	Weak transcription	Right Atrium	heart
32	chr12:118971800-118972200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:118971800-118973800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:118972000-118972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:118972000-118973000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:118972200-118972400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:118972400-118974000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:118972400-118975600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:118972800-118975400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:118973000-118973200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:118973000-118974000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:118973000-118974400	Enhancers	Psoas Muscle	Psoas
43	chr12:118973200-118974200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:118973200-118975000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:118973200-118976400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:118973400-118974000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:118973800-118975200	Enhancers	Placenta	Placenta
48	chr12:118973800-118975400	Enhancers	Aorta	Aorta
49	chr12:118973800-118975600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:118974000-118974600	Enhancers	Fetal Muscle Trunk	muscle

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