Variant report

Variant	nsv973061
Chromosome Location	chr12:45977176-45984724
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45977972..45998616-chr12:46118204..46125859,52	MCF-7	breast:
2	chr12:45984483..45987367-chr12:45987935..45990423,2	MCF-7	breast:
3	chr12:45974620..45976880-chr12:45981422..45983264,2	MCF-7	breast:
4	chr12:45980640..45983256-chr12:45983851..45986122,2	MCF-7	breast:
5	chr12:45979012..45981582-chr12:46120847..46123181,4	MCF-7	breast:
6	chr12:45982849..45985395-chr12:46114233..46117039,2	K562	blood:
7	chr12:45980640..45983256-chr12:45983851..45986122,2	MCF-7	breast:
8	chr12:45981654..45982562-chr12:46119343..46119972,2	MCF-7	breast:
9	chr12:45975529..45978166-chr12:46122710..46125350,3	MCF-7	breast:
10	chr12:45977173..45979190-chr12:46121054..46122970,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273015	chromatin interactions
ENSG00000189079	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570723883	chr12:45977184-45977185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76505051	chr12:45977222-45977223	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143762133	chr12:45977267-45977268	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117612116	chr12:45977307-45977308	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535128449	chr12:45977315-45977316	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7961728	chr12:45977317-45977318	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565374329	chr12:45977332-45977333	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539400234	chr12:45977371-45977372	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140852396	chr12:45977433-45977434	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577458161	chr12:45977436-45977437	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544490212	chr12:45977437-45977438	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556748741	chr12:45977509-45977510	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539209661	chr12:45977525-45977526	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2712580	chr12:45977526-45977527	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560553006	chr12:45977544-45977545	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549557038	chr12:45977548-45977549	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2544098	chr12:45977587-45977588	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200466049	chr12:45977588-45977589	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561506126	chr12:45977590-45977591	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564261722	chr12:45977598-45977599	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185284414	chr12:45977627-45977628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549565342	chr12:45977688-45977689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561514391	chr12:45977692-45977693	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529042117	chr12:45977701-45977702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547120627	chr12:45977797-45977798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565766050	chr12:45977868-45977869	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528986898	chr12:45977874-45977875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190095582	chr12:45977931-45977932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574869451	chr12:45977932-45977933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150117259	chr12:45977933-45977934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138554819	chr12:45977969-45977970	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113712213	chr12:45978057-45978058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs386762696	chr12:45978058-45978059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199574116	chr12:45978060-45978061	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200990777	chr12:45978061-45978062	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201539297	chr12:45978063-45978064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148823864	chr12:45978101-45978102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs117438874	chr12:45978127-45978128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554352794	chr12:45978134-45978135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs563826078	chr12:45978169-45978170	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376273719	chr12:45978178-45978179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572491531	chr12:45978192-45978193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2712581	chr12:45978194-45978195	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147265592	chr12:45978373-45978374	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78576355	chr12:45978374-45978375	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564456508	chr12:45978379-45978380	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143461570	chr12:45978385-45978386	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138192232	chr12:45978494-45978495	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115129903	chr12:45978600-45978601	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182687912	chr12:45978639-45978640	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45976000-45977800	Enhancers	Duodenum Mucosa	Duodenum
2	chr12:45976000-45977800	Enhancers	Stomach Mucosa	stomach
3	chr12:45976000-45979200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:45976200-45977800	Enhancers	Fetal Intestine Large	intestine
5	chr12:45976400-45977600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:45976400-45977600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:45976400-45977800	Enhancers	Fetal Brain Male	brain
8	chr12:45976400-45987000	Weak transcription	Esophagus	oesophagus
9	chr12:45976800-45977200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:45976800-45977200	Enhancers	Fetal Lung	lung
11	chr12:45977000-45977400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:45977000-45977600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:45977000-45978200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:45977200-45977600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:45977600-45977800	Enhancers	Fetal Brain Female	brain
16	chr12:45977600-45978200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:45977600-45979200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:45977600-45980400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:45977800-45980400	Weak transcription	Stomach Mucosa	stomach
20	chr12:45978000-45978400	Enhancers	HSMMtube	muscle
21	chr12:45978200-45979200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:45978200-45980200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:45979200-45980600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr12:45979200-45980800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:45979400-45979800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:45979400-45980600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr12:45979600-45980600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:45980000-45981400	Enhancers	Colonic Mucosa	Colon
29	chr12:45980200-45980800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:45980200-45981600	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:45980400-45982400	Enhancers	Fetal Intestine Small	intestine
32	chr12:45980400-45982800	Enhancers	Stomach Mucosa	stomach
33	chr12:45980400-45983000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:45980600-45981200	Enhancers	Liver	Liver
35	chr12:45980600-45985400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:45980800-45981400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr12:45980800-45982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:45981000-45982800	Enhancers	Fetal Intestine Large	intestine
39	chr12:45981200-45981600	Weak transcription	Liver	Liver
40	chr12:45981400-45981600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:45981400-45982000	Weak transcription	Colonic Mucosa	Colon
42	chr12:45981600-45981800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:45981600-45981800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:45981600-45982000	Enhancers	Liver	Liver
45	chr12:45981800-45982000	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:45981800-45982000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:45982000-45982200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:45982000-45982200	Enhancers	Small Intestine	intestine
49	chr12:45982000-45982400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:45982200-45982800	Enhancers	Duodenum Mucosa	Duodenum

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