Variant report

Variant	nsv1037144
Chromosome Location	chr12:67203280-67325187
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:59)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
2	chr12:67272015..67274348-chr12:67462496..67464982,2	MCF-7	breast:
3	chr12:67082373..67083323-chr12:67255078..67255633,2	MCF-7	breast:
4	chr12:67267602..67269180-chr12:67272677..67275456,2	MCF-7	breast:
5	chr12:67173926..67176766-chr12:67210508..67212832,2	MCF-7	breast:
6	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
7	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
8	chr12:67075881..67076642-chr12:67254630..67255196,2	MCF-7	breast:
9	chr12:67262259..67265055-chr12:67432650..67435604,2	MCF-7	breast:
10	chr12:67297065..67298731-chr12:67613597..67614634,5	MCF-7	breast:
11	chr12:67292063..67294236-chr12:67462037..67463720,2	MCF-7	breast:
12	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
13	chr12:67253647..67256314-chr12:67565336..67566847,2	K562	blood:
14	chr12:67255252..67257877-chr12:67460950..67463258,3	MCF-7	breast:
15	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
16	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
17	chr12:67092019..67092945-chr12:67254522..67255578,9	MCF-7	breast:
18	chr12:67297865..67298411-chr12:67461007..67461777,2	MCF-7	breast:
19	chr12:67314700..67316458-chr12:67662314..67664044,2	MCF-7	breast:
20	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
21	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:
22	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
23	chr12:67263616..67266720-chr12:67267325..67269969,3	MCF-7	breast:
24	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
25	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
26	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:
27	chr12:67296662..67299325-chr12:67460578..67464881,5	MCF-7	breast:
28	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
29	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:
30	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
31	chr12:67310671..67312914-chr12:67463080..67465006,2	MCF-7	breast:
32	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
33	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
34	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
35	chr12:67228648..67230716-chr12:67231553..67234052,2	K562	blood:
36	chr12:67253715..67256707-chr12:67270307..67272731,2	K562	blood:
37	chr12:67267602..67269180-chr12:67272677..67275456,2	MCF-7	breast:
38	chr12:67270133..67270911-chr12:67613617..67614322,2	MCF-7	breast:
39	chr12:67109764..67110463-chr12:67254735..67255402,2	MCF-7	breast:
40	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
41	chr12:67082410..67083294-chr12:67254648..67255604,5	MCF-7	breast:
42	chr12:67110471..67111538-chr12:67254403..67256131,14	MCF-7	breast:
43	chr12:67197849..67200436-chr12:67204099..67206299,2	K562	blood:
44	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
45	chr12:67197849..67199448-chr12:67204005..67205599,2	K562	blood:
46	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
47	chr1:234360449..234360966-chr12:67305655..67306184,2	MCF-7	breast:
48	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
49	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
50	chr12:67208944..67211936-chr12:67215045..67216994,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-1	chr12:67301276-67301326	XLOC_010109
2	lnc-GRIP1-1	chr12:67285656-67285734	ENSG00000256248
3	lnc-GRIP1-1	chr12:67285593-67290880	XLOC_010109

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions
ENSG00000155974	chromatin interactions
ENSG00000256248	chromatin interactions
ENSG00000111530	chromatin interactions
DCBLD2	miRNA target sites

Extended variants
information (count: 4390 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4390 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7976714	chr12:67203280-67203281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578193179	chr12:67203283-67203284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575177413	chr12:67203322-67203323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145898081	chr12:67203331-67203332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10878510	chr12:67203339-67203340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs80199919	chr12:67203370-67203371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529297731	chr12:67203389-67203390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553877680	chr12:67203406-67203407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565200765	chr12:67203415-67203416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117884721	chr12:67203434-67203435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550879353	chr12:67203440-67203441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12824146	chr12:67203465-67203466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536942297	chr12:67203490-67203491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185913467	chr12:67203515-67203516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577309373	chr12:67203518-67203519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534554877	chr12:67203520-67203521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141088503	chr12:67203532-67203533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192042357	chr12:67203542-67203543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552952977	chr12:67203559-67203560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12581388	chr12:67203573-67203574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532931525	chr12:67203574-67203575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369053389	chr12:67203635-67203636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538763233	chr12:67203643-67203644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116326978	chr12:67203662-67203663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575145263	chr12:67203725-67203726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369847917	chr12:67203736-67203737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542418198	chr12:67203808-67203809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560809142	chr12:67203819-67203820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182261191	chr12:67203839-67203840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546290114	chr12:67203862-67203863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540241478	chr12:67203901-67203902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545966178	chr12:67203911-67203912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73329268	chr12:67203915-67203916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11176430	chr12:67203928-67203929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143451081	chr12:67204008-67204009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530274404	chr12:67204028-67204029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548813695	chr12:67204065-67204066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567139906	chr12:67204071-67204072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534538355	chr12:67204167-67204168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186007764	chr12:67204197-67204198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190418188	chr12:67204252-67204253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571264687	chr12:67204279-67204280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538355623	chr12:67204293-67204294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35741614	chr12:67204376-67204377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77898544	chr12:67204378-67204379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs386763865	chr12:67204379-67204380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34499611	chr12:67204380-67204381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79300017	chr12:67204381-67204382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs60754979	chr12:67204383-67204384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112812396	chr12:67204384-67204385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Renal cell carcinoma	18194544	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
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67198600-67207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:67198800-67204600	Weak transcription	Fetal Brain Female	brain
3	chr12:67198800-67206800	Weak transcription	Fetal Brain Male	brain
4	chr12:67199000-67206800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:67199000-67207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:67199600-67204600	Weak transcription	Brain Germinal Matrix	brain
7	chr12:67202400-67207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:67204600-67205000	Enhancers	Fetal Brain Female	brain
9	chr12:67204600-67205400	Enhancers	Brain Germinal Matrix	brain
10	chr12:67205000-67205200	Enhancers	Primary T cells from cord blood	blood
11	chr12:67206400-67206600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:67206400-67207800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:67206600-67207800	Enhancers	HMEC	breast
14	chr12:67206800-67207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:67206800-67207000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:67206800-67207600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:67206800-67207600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:67206800-67207600	Enhancers	Fetal Brain Male	brain
19	chr12:67206800-67207800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:67206800-67207800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:67207000-67207400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:67207000-67207400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:67207000-67207600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:67207000-67207600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:67207000-67207600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:67207000-67207600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:67207000-67207800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:67207000-67207800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:67207000-67207800	Enhancers	NHEK	skin
30	chr12:67207000-67208000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:67207200-67207400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:67207200-67207600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:67207200-67207600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:67207200-67207800	Enhancers	Primary T cells from cord blood	blood
35	chr12:67207400-67207800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:67207600-67207800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:67207600-67210800	Weak transcription	Fetal Brain Male	brain
38	chr12:67208200-67208400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:67209800-67210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:67210800-67211200	Enhancers	Fetal Brain Male	brain
41	chr12:67213800-67214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:67214000-67217200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:67216200-67216400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:67216200-67218600	Enhancers	HMEC	breast
45	chr12:67216400-67218400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:67216600-67217800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:67216600-67217800	Enhancers	NHEK	skin
48	chr12:67216600-67218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:67216600-67218600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:67216800-67218600	Enhancers	Pancreatic Islets	Pancreatic Islet

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