Variant report

Variant	nsv899294
Chromosome Location	chr12:74843754-74906884
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74886086..74889072-chr12:74890768..74893334,2	K562	blood:
2	chr12:74904398..74905899-chr12:74909563..74911082,2	MCF-7	breast:
3	chr12:74841181..74842984-chr12:74844069..74845768,2	MCF-7	breast:
4	chr12:74877290..74879814-chr12:74930783..74933713,2	MCF-7	breast:
5	chr12:74855922..74856922-chrX:16789379..16790137,2	HCT-116	colon:
6	chr12:74902868..74904501-chr12:74905941..74907973,2	K562	blood:
7	chr12:74854045..74856877-chr12:74857073..74859373,2	MCF-7	breast:
8	chr12:74901834..74903505-chr12:74911073..74913080,2	MCF-7	breast:
9	chr12:74886086..74889072-chr12:74890768..74893334,2	K562	blood:
10	chr12:74892365..74894879-chr12:74930250..74931832,2	K562	blood:
11	chr12:74886784..74889473-chr12:74901933..74904935,3	MCF-7	breast:
12	chr12:74902868..74904501-chr12:74905941..74907973,2	K562	blood:
13	chr12:74901933..74904402-chr12:74929884..74932193,2	K562	blood:
14	chr12:74869489..74872190-chr12:74878705..74880923,2	MCF-7	breast:
15	chr12:74886784..74889473-chr12:74901933..74904935,3	MCF-7	breast:
16	chr12:74905173..74906711-chr12:74917835..74920721,2	K562	blood:
17	chr12:74869489..74872190-chr12:74878705..74880923,2	MCF-7	breast:
18	chr12:74855468..74859118-chr12:74859957..74863080,3	MCF-7	breast:
19	chr12:74901878..74904719-chr12:74924650..74926216,2	K562	blood:
20	chr12:74841340..74843120-chr12:74847456..74849451,2	K562	blood:
21	chr12:74854045..74856877-chr12:74857073..74859373,2	MCF-7	breast:
22	chr12:74905829..74910611-chr12:74911058..74915659,4	K562	blood:
23	chr12:74855468..74859118-chr12:74859957..74863080,3	MCF-7	breast:
24	chr12:74883702..74885504-chr12:74913172..74915992,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257386	chromatin interactions
ENSG00000253719	chromatin interactions

Extended variants
information (count: 1244 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71457028	chr12:74843754-74843755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74667311	chr12:74843756-74843757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184780744	chr12:74843757-74843758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531480121	chr12:74843763-74843764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376397703	chr12:74843772-74843773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541537246	chr12:74843781-74843782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573174461	chr12:74843837-74843838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533707431	chr12:74843849-74843850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140164172	chr12:74843882-74843883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570827518	chr12:74843884-74843885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539937680	chr12:74843888-74843889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556577385	chr12:74843928-74843929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576553672	chr12:74843930-74843931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12230054	chr12:74843973-74843974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536147614	chr12:74844027-74844028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556055587	chr12:74844043-74844044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572782886	chr12:74844095-74844096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188808720	chr12:74844101-74844102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564720735	chr12:74844347-74844348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576850732	chr12:74844473-74844474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79698738	chr12:74844516-74844517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2365916	chr12:74862011-74862012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530708709	chr12:74862078-74862079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73338742	chr12:74862087-74862088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376336498	chr12:74862092-74862093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370089122	chr12:74862110-74862111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567226517	chr12:74862117-74862118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2365917	chr12:74862192-74862193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190696708	chr12:74862209-74862210	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566612142	chr12:74862228-74862229	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376475219	chr12:74862233-74862234	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558670423	chr12:74862258-74862259	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569191969	chr12:74862285-74862286	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs66629941	chr12:74862286-74862287	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555213764	chr12:74862297-74862298	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138273774	chr12:74862340-74862341	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544876523	chr12:74862364-74862365	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554436579	chr12:74862380-74862381	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572974315	chr12:74862387-74862388	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375147575	chr12:74862394-74862395	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545131823	chr12:74862396-74862397	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570632185	chr12:74862408-74862409	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564840130	chr12:74862427-74862428	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530478329	chr12:74862516-74862517	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543886997	chr12:74862573-74862574	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560817109	chr12:74862591-74862592	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529973156	chr12:74862592-74862593	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546384395	chr12:74862595-74862596	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530777396	chr12:74862646-74862647	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566369725	chr12:74862661-74862662	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74843000-74843800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:74843400-74844600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:74843600-74843800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:74843600-74844000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:74843600-74844200	Enhancers	HSMM	muscle
6	chr12:74862000-74863000	Enhancers	HepG2	liver
7	chr12:74862200-74862800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:74862800-74863000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:74869400-74871000	Enhancers	Liver	Liver
10	chr12:74871000-74876400	Weak transcription	Liver	Liver
11	chr12:74871200-74871400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:74871200-74871800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:74871400-74880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:74874400-74874600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:74876200-74877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:74876400-74877200	Enhancers	Liver	Liver
17	chr12:74877000-74877400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:74877000-74877400	Active TSS	Duodenum Mucosa	Duodenum
19	chr12:74878200-74879000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:74878200-74879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:74878400-74878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:74878600-74879000	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:74878800-74884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:74879000-74884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:74879600-74880000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:74879800-74880400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:74880000-74880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:74880000-74880400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:74880200-74884000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:74880400-74885400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:74882200-74884200	Enhancers	GM12878-XiMat	blood
32	chr12:74883400-74883600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:74883400-74883600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:74883400-74883600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:74883400-74883800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:74883400-74884200	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:74883400-74884200	Enhancers	Dnd41	blood
38	chr12:74883600-74884200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:74883800-74884200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:74883800-74884200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:74884000-74884200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:74884000-74884200	Enhancers	A549	lung
43	chr12:74884200-74884400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr12:74884200-74884400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:74884200-74884400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:74884200-74884400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:74884200-74884600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:74884200-74884600	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:74884200-74884600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:74884200-74884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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