Variant report

Variant	nsv427918
Chromosome Location	chr12:87647585-87786660
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:87741098..87741914-chr12:88060888..88061475,2	MCF-7	breast:
2	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:
3	chr12:87717689..87721752-chr12:87725206..87727363,3	MCF-7	breast:
4	chr12:87717689..87721752-chr12:87725206..87727363,3	MCF-7	breast:
5	chr12:87655842..87656682-chr3:185418165..185418916,2	MCF-7	breast:
6	chr12:87659850..87660667-chr12:88060624..88061809,3	MCF-7	breast:
7	chr12:87765170..87767294-chr12:87767969..87769642,2	MCF-7	breast:
8	chr12:87647495..87649895-chr12:87655777..87657891,2	MCF-7	breast:
9	chr12:87646760..87648711-chr12:87650692..87652796,2	MCF-7	breast:
10	chr12:87784045..87784894-chr3:56835588..56836187,2	HCT-116	colon:
11	chr12:87775414..87778904-chr12:87782463..87785146,3	MCF-7	breast:
12	chr12:87733291..87735267-chr12:87737153..87739877,2	MCF-7	breast:
13	chr12:87647495..87649895-chr12:87655777..87657891,2	MCF-7	breast:
14	chr12:87775414..87778904-chr12:87782463..87785146,3	MCF-7	breast:
15	chr12:87733291..87735267-chr12:87737153..87739877,2	MCF-7	breast:
16	chr12:87698386..87699899-chr3:63989305..63991367,2	MCF-7	breast:
17	chr12:87636634..87638799-chr12:87660312..87662242,2	K562	blood:
18	chr12:87738163..87738714-chr12:88060893..88061865,2	MCF-7	breast:
19	chr12:87668540..87669052-chr12:88060902..88061446,2	MCF-7	breast:
20	chr12:87646760..87648711-chr12:87650692..87652796,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239653	chromatin interactions
ENSG00000163947	chromatin interactions

Extended variants
information (count: 3927 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3927 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77393040	chr12:87649213-87649214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533185587	chr12:87649227-87649228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576831192	chr12:87649228-87649229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566795820	chr12:87649245-87649246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78815798	chr12:87649250-87649251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73194390	chr12:87649283-87649284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371073947	chr12:87649345-87649346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537905749	chr12:87649360-87649361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557845196	chr12:87649375-87649376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375540085	chr12:87649406-87649407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73416107	chr12:87649428-87649429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555555625	chr12:87649473-87649474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574322910	chr12:87649511-87649512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186004203	chr12:87649512-87649513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377656780	chr12:87649564-87649565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571663135	chr12:87649591-87649592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561685707	chr12:87649602-87649603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57967943	chr12:87649605-87649606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544298699	chr12:87649629-87649630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558014601	chr12:87649633-87649634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564200715	chr12:87649634-87649635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75830284	chr12:87649649-87649650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546854443	chr12:87649679-87649680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566647558	chr12:87649715-87649716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529137582	chr12:87649730-87649731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59038161	chr12:87649751-87649752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10858571	chr12:87649769-87649770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200459977	chr12:87649800-87649801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114439031	chr12:87649841-87649842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557808536	chr12:87649854-87649855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117625727	chr12:87649895-87649896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534123438	chr12:87649915-87649916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554295121	chr12:87649923-87649924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574163089	chr12:87649968-87649969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372098313	chr12:87649978-87649979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556602740	chr12:87649989-87649990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376083555	chr12:87650034-87650035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191489428	chr12:87650052-87650053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183551954	chr12:87650065-87650066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149774099	chr12:87650096-87650097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539951825	chr12:87650119-87650120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559809488	chr12:87650151-87650152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6538067	chr12:87650216-87650217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551822282	chr12:87650246-87650247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529091849	chr12:87650268-87650269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199531063	chr12:87650276-87650277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367971778	chr12:87650284-87650285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188041164	chr12:87650307-87650308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192831905	chr12:87650326-87650327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551401690	chr12:87650329-87650330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87649200-87653000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:87653000-87653800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:87653200-87653600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:87653200-87653600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:87653400-87653800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:87653400-87653800	Enhancers	HUVEC	blood vessel
7	chr12:87653800-87656200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:87654000-87656000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:87654600-87655600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:87655200-87655400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:87656200-87656400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:87664200-87664800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:87664200-87664800	Enhancers	Osteobl	bone
14	chr12:87664200-87665200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:87664200-87665200	Enhancers	Fetal Lung	lung
16	chr12:87664600-87664800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:87664600-87665000	Active TSS	A549	lung
18	chr12:87664600-87665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:87664600-87665400	Enhancers	Fetal Kidney	kidney
20	chr12:87664800-87665200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:87664800-87665200	Enhancers	NH-A	brain
22	chr12:87664800-87665200	Flanking Active TSS	Osteobl	bone
23	chr12:87664800-87665400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:87665000-87665200	Flanking Active TSS	A549	lung
25	chr12:87665200-87665400	Enhancers	A549	lung
26	chr12:87665200-87665400	Enhancers	Osteobl	bone
27	chr12:87665200-87665600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:87665200-87666600	Weak transcription	Fetal Lung	lung
29	chr12:87665400-87666400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:87665400-87668600	Weak transcription	Osteobl	bone
31	chr12:87665400-87669400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:87665400-87670000	Weak transcription	A549	lung
33	chr12:87666400-87667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:87666600-87667000	Enhancers	Fetal Lung	lung
35	chr12:87667200-87668400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:87668600-87668800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:87668600-87669000	Enhancers	Osteobl	bone
38	chr12:87669400-87670600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:87669600-87670800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:87669800-87670400	Enhancers	Fetal Brain Male	brain
41	chr12:87670000-87670400	Enhancers	A549	lung
42	chr12:87670400-87674200	Weak transcription	A549	lung
43	chr12:87673200-87674800	Enhancers	Primary B cells from cord blood	blood
44	chr12:87673800-87674000	Active TSS	GM12878-XiMat	blood
45	chr12:87673800-87674800	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:87674000-87674400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:87674000-87675000	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:87674200-87674400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:87674200-87674600	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:87674200-87674600	Active TSS	A549	lung

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