Variant report

Variant	nsv976719
Chromosome Location	chr12:25482467-25552186
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:97)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:25526695..25530070-chr12:25536309..25539398,3	K562	blood:
2	chr12:25401342..25408043-chr12:25536807..25542276,13	MCF-7	breast:
3	chr12:25363524..25364491-chr12:25539761..25541033,6	MCF-7	breast:
4	chr12:25490326..25492568-chr12:25495256..25497193,2	MCF-7	breast:
5	chr12:25500480..25503014-chr12:25525378..25528132,2	K562	blood:
6	chr12:25537574..25540518-chr12:25544470..25550638,6	K562	blood:
7	chr12:25391008..25395226-chr12:25537516..25540664,6	MCF-7	breast:
8	chr12:25530475..25534421-chr12:25537040..25539413,4	MCF-7	breast:
9	chr12:25509911..25513444-chr12:25513969..25516458,4	K562	blood:
10	chr12:25538949..25539803-chr15:89877520..89878057,2	NB4	blood:
11	chr12:25399904..25408403-chr12:25537129..25541683,17	MCF-7	breast:
12	chr12:25379869..25383979-chr12:25536999..25540533,4	MCF-7	breast:
13	chr12:25519908..25522060-chr12:25525046..25527518,2	MCF-7	breast:
14	chr12:25532324..25535342-chr12:25537107..25540978,4	MCF-7	breast:
15	chr12:25550495..25553414-chr12:25576211..25578441,2	K562	blood:
16	chr12:25530390..25532171-chr12:25537422..25539249,4	MCF-7	breast:
17	chr12:25403032..25403968-chr12:25538271..25538834,2	MCF-7	breast:
18	chr12:25359301..25361525-chr12:25535610..25537656,2	MCF-7	breast:
19	chr12:25403205..25406178-chr12:25481139..25483309,2	MCF-7	breast:
20	chr12:25363141..25364781-chr12:25539309..25541339,2	K562	blood:
21	chr12:25349919..25351633-chr12:25538226..25540199,2	K562	blood:
22	chr12:25367414..25369461-chr12:25539857..25541737,2	K562	blood:
23	chr12:25346892..25348709-chr12:25538860..25541610,2	MCF-7	breast:
24	chr12:25308057..25308873-chr12:25540076..25541015,4	K562	blood:
25	chr12:25349644..25351670-chr12:25539311..25540957,2	MCF-7	breast:
26	chr12:25500975..25503292-chr12:25505683..25507206,2	K562	blood:
27	chr12:25537678..25539924-chr12:25580728..25582578,2	MCF-7	breast:
28	chr12:25186445..25188317-chr12:25538295..25540400,2	MCF-7	breast:
29	chr12:25359908..25361525-chr12:25537467..25540336,2	MCF-7	breast:
30	chr12:25402419..25405020-chr12:25531108..25535073,3	MCF-7	breast:
31	chr12:25362035..25364781-chr12:25538838..25541339,3	K562	blood:
32	chr12:25467024..25469449-chr12:25537927..25540191,2	K562	blood:
33	chr12:25362118..25365222-chr12:25537571..25540342,3	MCF-7	breast:
34	chr12:25535006..25537117-chr12:25537751..25540809,3	MCF-7	breast:
35	chr12:25538736..25539464-chr12:52450351..52451329,2	Hela-S3	cervix:
36	chr12:24952418..24954851-chr12:25537652..25539269,2	K562	blood:
37	chr12:25490326..25492568-chr12:25495256..25497193,2	MCF-7	breast:
38	chr12:25509911..25513444-chr12:25513969..25516458,4	K562	blood:
39	chr12:25346000..25350444-chr12:25537035..25541636,10	K562	blood:
40	chr12:25282337..25284646-chr12:25539223..25540773,2	K562	blood:
41	chr12:25396573..25398478-chr12:25538159..25540026,2	MCF-7	breast:
42	chr12:25370682..25374580-chr12:25537849..25540511,3	K562	blood:
43	chr12:25427476..25430141-chr12:25537729..25540397,2	K562	blood:
44	chr11:65270912..65271507-chr12:25538570..25539378,2	Hela-S3	cervix:
45	chr12:25374667..25376275-chr12:25538589..25540510,2	MCF-7	breast:
46	chr12:25488663..25491627-chr12:25537641..25539186,2	MCF-7	breast:
47	chr12:25539149..25539760-chr12:26111861..26112363,2	NB4	blood:
48	chr12:25514300..25517054-chr12:25537341..25540599,4	K562	blood:
49	chr12:25422363..25423089-chr12:25538730..25539383,2	NB4	blood:
50	chr12:25524234..25527063-chr12:25529606..25532241,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFLTD1-1	chr12:25537425-25537631	XLOC_010031
2	lnc-IFLTD1-4	chr12:25528146-25528258	NONHSAT027350
3	lnc-IFLTD1-1	chr12:25538558-25539101	XLOC_010031
4	lnc-IFLTD1-4	chr12:25532841-25533206	NONHSAT027350

No data

Variant related genes	Relation type
ENSG00000166912	chromatin interactions
ENSG00000060982	chromatin interactions
ENSG00000267475	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000246695	chromatin interactions
ENSG00000205707	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000255921	chromatin interactions
ENSG00000268076	chromatin interactions
ENSG00000213965	chromatin interactions
ENSG00000118307	chromatin interactions
ENSG00000133703	chromatin interactions
ENSG00000118308	chromatin interactions
ENSG00000153885	chromatin interactions
ENSG00000096968	chromatin interactions
ENSG00000123094	chromatin interactions
HOXA7	miRNA target sites
HOXA9	miRNA target sites

Extended variants
information (count: 2473 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2473 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545742135	chr12:25482491-25482492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200002954	chr12:25482492-25482493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4963608	chr12:25482506-25482507	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552602801	chr12:25482562-25482563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564653292	chr12:25482566-25482567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528674125	chr12:25482654-25482655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148895606	chr12:25482668-25482669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565420044	chr12:25482720-25482721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143251823	chr12:25482768-25482769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547750550	chr12:25482779-25482780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148295148	chr12:25482814-25482815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574656252	chr12:25482830-25482831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11831865	chr12:25482863-25482864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141490527	chr12:25482870-25482871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544684287	chr12:25482890-25482891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558575390	chr12:25482914-25482915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577111055	chr12:25482985-25482986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147482613	chr12:25482988-25482989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192761756	chr12:25483061-25483062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574957048	chr12:25483110-25483111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542356544	chr12:25483115-25483116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557280469	chr12:25483159-25483160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575549585	chr12:25483213-25483214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12579869	chr12:25483263-25483264	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs375690087	chr12:25483311-25483312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144004633	chr12:25483333-25483334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528793015	chr12:25483461-25483462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540404776	chr12:25483557-25483558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561962186	chr12:25483586-25483587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74963722	chr12:25483625-25483626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199964326	chr12:25483650-25483651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10624232	chr12:25483653-25483654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34191446	chr12:25483654-25483655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397944209	chr12:25483657-25483658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547984100	chr12:25483667-25483668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs56231104	chr12:25483820-25483821	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530418319	chr12:25483829-25483830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561190927	chr12:25483897-25483898	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10505974	chr12:25483936-25483937	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79747567	chr12:25483943-25483944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561584528	chr12:25483959-25483960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7965364	chr12:25484193-25484194	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
43	rs553167286	chr12:25484228-25484229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568269543	chr12:25484238-25484239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs4963872	chr12:25484257-25484258	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79009641	chr12:25484273-25484274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575733862	chr12:25484314-25484315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561980303	chr12:25484374-25484375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201843752	chr12:25484431-25484432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs74874104	chr12:25484433-25484434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25475800-25486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:25476000-25485600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:25476800-25486800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:25477000-25485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:25477000-25486600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:25477400-25486800	Weak transcription	NH-A	brain
7	chr12:25477400-25487400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:25478000-25484600	Weak transcription	GM12878-XiMat	blood
9	chr12:25481400-25486800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:25481800-25485800	Weak transcription	Hela-S3	cervix
11	chr12:25482000-25486800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:25482200-25485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:25484600-25486800	Enhancers	GM12878-XiMat	blood
14	chr12:25484800-25485400	Enhancers	Pancreas	Pancrea
15	chr12:25485200-25486800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:25485400-25486400	Weak transcription	Pancreas	Pancrea
17	chr12:25485600-25485800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:25485600-25486800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:25485600-25486800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:25485600-25486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:25485800-25486000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:25485800-25486200	Bivalent Enhancer	Osteobl	bone
23	chr12:25485800-25486400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:25485800-25486600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:25485800-25486800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:25485800-25486800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:25485800-25487400	Enhancers	NHLF	lung
28	chr12:25485800-25487600	Enhancers	Hela-S3	cervix
29	chr12:25486200-25486800	Enhancers	Osteobl	bone
30	chr12:25486200-25487400	Enhancers	NHEK	skin
31	chr12:25486400-25486800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:25486400-25487000	Enhancers	Pancreas	Pancrea
33	chr12:25486400-25487000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:25486400-25487400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:25486400-25487400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:25486600-25486800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:25486600-25487000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:25486600-25487000	Enhancers	HMEC	breast
39	chr12:25486600-25487200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:25486600-25487200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:25486600-25487200	Enhancers	HUVEC	blood vessel
42	chr12:25486600-25487400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:25486800-25487000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:25486800-25487000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:25486800-25487000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr12:25486800-25487000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:25486800-25487000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:25486800-25487000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:25486800-25487000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:25486800-25487200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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