Variant report

Variant	nsv976572
Chromosome Location	chr12:9896625-9906830
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9903072..9904066-chr12:10078179..10078803,2	MCF-7	breast:
2	chr12:9797900..9800750-chr12:9903468..9905563,2	K562	blood:
3	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
4	chr12:9901588..9903730-chr12:9963848..9968130,4	K562	blood:
5	chr12:9902845..9905965-chr18:46122603..46125602,4	K562	blood:
6	chr12:9901254..9903690-chr12:9955687..9957759,2	K562	blood:
7	chr12:9903679..9905880-chr12:10079207..10081404,2	K562	blood:
8	chr12:9903202..9904447-chr12:9950005..9951021,6	MCF-7	breast:
9	chr12:9903036..9905179-chr12:10078668..10080707,2	K562	blood:
10	chr12:9785937..9789241-chr12:9902375..9905044,4	K562	blood:
11	chr12:9903015..9904410-chr12:9949927..9951349,11	K562	blood:
12	chr12:9793433..9795814-chr12:9903081..9904600,2	K562	blood:
13	chr12:9903167..9904499-chr12:9949360..9951288,15	MCF-7	breast:
14	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
15	chr12:9901585..9904394-chr12:10018738..10020410,2	K562	blood:
16	chr12:9902845..9905395-chr18:46122603..46125600,2	K562	blood:
17	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:
18	chr12:9904754..9907523-chr12:9964008..9966438,2	K562	blood:
19	chr12:9901213..9901752-chr12:9950468..9951334,2	MCF-7	breast:
20	chr12:9901140..9901915-chr12:9950375..9951199,4	MCF-7	breast:
21	chr12:9893977..9895808-chr12:9897315..9898952,2	K562	blood:
22	chr12:9903079..9903979-chr12:10078128..10079168,4	K562	blood:
23	chr12:9786956..9789241-chr12:9902375..9904893,3	K562	blood:
24	chr12:9903687..9905772-chr12:9958368..9961230,2	K562	blood:
25	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
26	chr12:9906322..9908011-chr12:9937316..9939333,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256442	chromatin interactions
ENSG00000184293	chromatin interactions
ENSG00000272917	chromatin interactions
ENSG00000256594	chromatin interactions
ENSG00000233719	chromatin interactions
ENSG00000255882	chromatin interactions

Extended variants
information (count: 263 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7312624	chr12:9896639-9896640	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374503654	chr12:9896823-9896824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386760208	chr12:9896824-9896825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140480899	chr12:9896825-9896826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139335139	chr12:9896826-9896827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76358948	chr12:9896827-9896828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79544616	chr12:9896828-9896829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76102007	chr12:9896829-9896830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370240049	chr12:9896831-9896832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76664174	chr12:9896832-9896833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78845102	chr12:9896833-9896834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78087159	chr12:9896835-9896836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376339911	chr12:9896841-9896842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181713020	chr12:9896902-9896903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531222960	chr12:9896906-9896907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572475595	chr12:9896952-9896953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10772102	chr12:9896953-9896954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551192577	chr12:9896999-9897000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34386412	chr12:9897030-9897031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11052817	chr12:9897058-9897059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
21	rs372507914	chr12:9897132-9897133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146012223	chr12:9897183-9897184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139568859	chr12:9897197-9897198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149806480	chr12:9897207-9897208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144725962	chr12:9897237-9897238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148525868	chr12:9897275-9897276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374102618	chr12:9897335-9897336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145364444	chr12:9897348-9897349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185834835	chr12:9897396-9897397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10772104	chr12:9897434-9897435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs147654591	chr12:9897471-9897472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10844673	chr12:9897565-9897566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs116590649	chr12:9897688-9897689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142646223	chr12:9897722-9897723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144916475	chr12:9897746-9897747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188689916	chr12:9897762-9897763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181118150	chr12:9897769-9897770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151312075	chr12:9897848-9897849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186052367	chr12:9897850-9897851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116111308	chr12:9897930-9897931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527356566	chr12:9897953-9897954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190907308	chr12:9897975-9897976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182126074	chr12:9897986-9897987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79750161	chr12:9898128-9898129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547120818	chr12:9898147-9898148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117836922	chr12:9898152-9898153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7971721	chr12:9898227-9898228	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150123084	chr12:9898235-9898236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187655752	chr12:9898244-9898245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75760565	chr12:9898258-9898259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
2	chr12:9892800-9903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:9893000-9896800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:9894200-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9895600-9897200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:9895600-9897200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:9895600-9897400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:9895800-9896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:9895800-9896800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:9895800-9897200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:9895800-9897400	Enhancers	Primary T cells from cord blood	blood
16	chr12:9895800-9897400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:9895800-9898000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:9895800-9903200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:9896200-9896800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:9896200-9896800	Bivalent Enhancer	Dnd41	blood
21	chr12:9896200-9903200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:9896400-9896800	Enhancers	GM12878-XiMat	blood
23	chr12:9896400-9898000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:9896400-9903200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:9896600-9903000	Weak transcription	Primary B cells from cord blood	blood
27	chr12:9896800-9900800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:9896800-9902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:9896800-9903000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:9896800-9903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:9896800-9903200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:9896800-9903200	Weak transcription	GM12878-XiMat	blood
33	chr12:9896800-9903400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:9897200-9902800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:9897200-9903000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:9897400-9902800	Weak transcription	Primary T cells from cord blood	blood
37	chr12:9897600-9898000	Enhancers	HUVEC	blood vessel
38	chr12:9897600-9898200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:9898000-9898400	Enhancers	Fetal Kidney	kidney
40	chr12:9898000-9903000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:9898000-9903200	Weak transcription	HUVEC	blood vessel
42	chr12:9898000-9903800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:9898200-9903000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:9898400-9903200	Weak transcription	Fetal Kidney	kidney
45	chr12:9899400-9900000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:9899800-9900400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:9900000-9903200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:9900800-9901600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:9901600-9902000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:9901600-9902000	Enhancers	Fetal Muscle Trunk	muscle

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