Variant report

Variant	nsv560456
Chromosome Location	chr12:121668254-121687174
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121648201..121650106-chr12:121683652..121685529,2	K562	blood:
2	chr11:27527880..27528431-chr12:121670917..121671538,2	NB4	blood:
3	chr12:121443251..121443780-chr12:121667749..121668757,4	K562	blood:
4	chr12:121568885..121570905-chr12:121668306..121669817,2	MCF-7	breast:
5	chr12:121684993..121686828-chr12:121732453..121734188,2	K562	blood:
6	chr12:121666946..121669221-chr12:121671524..121675627,4	K562	blood:
7	chr12:121668796..121670934-chr12:121675457..121678613,3	MCF-7	breast:
8	chr12:121683810..121686610-chr12:121699891..121701425,2	K562	blood:
9	chr12:121565146..121566829-chr12:121666395..121668307,2	MCF-7	breast:
10	chr12:121664973..121666491-chr12:121668545..121670113,2	K562	blood:
11	chr12:121666090..121669827-chr12:121670263..121674205,6	K562	blood:
12	chr12:121673593..121675098-chr12:121676910..121678687,2	K562	blood:
13	chr12:121666865..121669227-chr12:121676180..121679076,2	MCF-7	breast:
14	chr12:121681997..121683544-chr12:121683866..121685441,2	K562	blood:
15	chr12:121670055..121672601-chr12:121677371..121679007,2	K562	blood:
16	chr12:121552705..121555604-chr12:121668224..121669822,2	MCF-7	breast:
17	chr12:121666090..121669827-chr12:121670263..121674205,6	K562	blood:
18	chr12:121666865..121669227-chr12:121676180..121679076,2	MCF-7	breast:
19	chr12:121660603..121665110-chr12:121671733..121676729,4	K562	blood:
20	chr12:121676166..121678548-chr12:121679208..121682170,2	K562	blood:
21	chr12:121666946..121669221-chr12:121671524..121675627,4	K562	blood:
22	chr12:121647335..121649645-chr12:121667084..121670803,3	MCF-7	breast:
23	chr12:121657033..121659452-chr12:121666561..121668360,2	K562	blood:
24	chr12:121679312..121681316-chr12:121682366..121683983,2	K562	blood:
25	chr12:121664133..121666878-chr12:121668504..121670264,2	K562	blood:
26	chr12:121674738..121676448-chr12:121680498..121682374,2	MCF-7	breast:
27	chr12:121673925..121677209-chr12:121686132..121689078,3	MCF-7	breast:
28	chr12:121685040..121687317-chr12:121689126..121690781,3	K562	blood:
29	chr12:121533631..121534218-chr12:121667773..121668734,2	K562	blood:
30	chr12:121676166..121678548-chr12:121679208..121682170,2	K562	blood:
31	chr12:121673593..121675098-chr12:121676910..121678687,2	K562	blood:
32	chr12:121670055..121672601-chr12:121677371..121679007,2	K562	blood:
33	chr12:121676787..121679151-chr12:121688485..121690169,2	MCF-7	breast:
34	chr12:121673925..121677209-chr12:121686132..121689078,3	MCF-7	breast:
35	chr12:121681997..121683544-chr12:121683866..121685441,2	K562	blood:
36	chr12:121674738..121676448-chr12:121680498..121682374,2	MCF-7	breast:
37	chr12:121679312..121681316-chr12:121682366..121683983,2	K562	blood:
38	chr12:121668796..121670934-chr12:121675457..121678613,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089041	chromatin interactions
ENSG00000245573	chromatin interactions
ENSG00000148943	chromatin interactions
ENSG00000135124	chromatin interactions

Extended variants
information (count: 1050 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10849860	chr12:121668254-121668255	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569576135	chr12:121668274-121668275	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58579849	chr12:121668295-121668296	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75123464	chr12:121668318-121668319	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2686391	chr12:121668342-121668343	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549431771	chr12:121668356-121668357	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377290550	chr12:121668399-121668400	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555445560	chr12:121668412-121668413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2668252	chr12:121668474-121668475	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs192345364	chr12:121668483-121668484	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553493588	chr12:121668529-121668530	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542478880	chr12:121668586-121668587	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144684907	chr12:121668623-121668624	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545570850	chr12:121668676-121668677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1169717	chr12:121668684-121668685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183223935	chr12:121668701-121668702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34655693	chr12:121668739-121668740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369619035	chr12:121668740-121668741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs10700307	chr12:121668753-121668754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187598526	chr12:121668762-121668763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149881302	chr12:121668773-121668774	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543285227	chr12:121668785-121668786	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs56678017	chr12:121668786-121668787	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199732050	chr12:121668787-121668788	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10700308	chr12:121668788-121668789	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200739133	chr12:121668789-121668790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs58309134	chr12:121668796-121668797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372056948	chr12:121668799-121668800	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540717827	chr12:121668868-121668869	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549837890	chr12:121668876-121668877	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558979060	chr12:121668883-121668884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532875341	chr12:121668884-121668885	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551129396	chr12:121668910-121668911	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs192010236	chr12:121668911-121668912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565779731	chr12:121668924-121668925	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530643787	chr12:121668925-121668926	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113950828	chr12:121668939-121668940	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182794479	chr12:121668940-121668941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs367935750	chr12:121668963-121668964	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553405726	chr12:121668979-121668980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538503893	chr12:121668980-121668981	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532946324	chr12:121669005-121669006	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141571383	chr12:121669081-121669082	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1180051	chr12:121669145-121669146	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs565306861	chr12:121669174-121669175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4980998	chr12:121669182-121669183	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554634079	chr12:121669221-121669222	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187073644	chr12:121669258-121669259	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77289077	chr12:121669268-121669269	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372433375	chr12:121669272-121669273	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
8	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
9	chr12:121653400-121673600	Weak transcription	Osteobl	bone
10	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
12	chr12:121653600-121670200	Weak transcription	NHDF-Ad	bronchial
13	chr12:121654800-121675200	Strong transcription	Fetal Stomach	stomach
14	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
15	chr12:121657000-121671600	Weak transcription	HUVEC	blood vessel
16	chr12:121657000-121676200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:121658200-121673600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:121658800-121671600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:121661600-121675800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:121661600-121675800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:121661800-121671000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:121662000-121671000	Weak transcription	Aorta	Aorta
23	chr12:121662000-121673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:121662000-121673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:121662000-121676800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:121662000-121679000	Weak transcription	K562	blood
27	chr12:121662400-121676400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:121662600-121673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
30	chr12:121663200-121675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:121663600-121675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121664000-121676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121664400-121668600	Genic enhancers	Fetal Intestine Small	intestine
34	chr12:121664400-121672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:121664400-121673600	Weak transcription	Fetal Lung	lung
36	chr12:121665400-121670800	Weak transcription	Small Intestine	intestine
37	chr12:121665600-121668400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:121665600-121669800	Weak transcription	GM12878-XiMat	blood
39	chr12:121665600-121676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:121665800-121670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:121665800-121675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:121665800-121678600	Weak transcription	NH-A	brain
44	chr12:121666000-121676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:121666200-121672200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:121666400-121669200	Genic enhancers	Fetal Intestine Large	intestine
47	chr12:121666400-121669400	Genic enhancers	Placenta	Placenta
48	chr12:121666400-121675200	Strong transcription	Colonic Mucosa	Colon
49	chr12:121666400-121676200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:121666600-121679200	Strong transcription	Lung	lung

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