Variant report

Variant	nsv541523
Chromosome Location	chr12:67302689-67357930
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:31)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
2	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
3	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
4	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
5	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
6	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
7	chr12:67326854..67328503-chr12:67662512..67664147,2	MCF-7	breast:
8	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
9	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
10	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
11	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
12	chr12:67310671..67312914-chr12:67463080..67465006,2	MCF-7	breast:
13	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
14	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
15	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
16	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
17	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
18	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
19	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
20	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
21	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
22	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
23	chr12:67314700..67316458-chr12:67662314..67664044,2	MCF-7	breast:
24	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
25	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
26	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
27	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
28	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
29	chr1:234360449..234360966-chr12:67305655..67306184,2	MCF-7	breast:
30	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
31	chr12:67313721..67315403-chr3:64008018..64010221,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal
2	lnc-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal
3	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000111530	chromatin interactions

Extended variants
information (count: 2053 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2053 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4612897	chr12:67302755-67302756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6581722	chr12:67302758-67302759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565067566	chr12:67302761-67302762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143229504	chr12:67302768-67302769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527766995	chr12:67302824-67302825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554314973	chr12:67302844-67302845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566433421	chr12:67302845-67302846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533797321	chr12:67302846-67302847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558807448	chr12:67302871-67302872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377736143	chr12:67302903-67302904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372074669	chr12:67302919-67302920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544574855	chr12:67302930-67302931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114704585	chr12:67302989-67302990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370274181	chr12:67302998-67302999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574949096	chr12:67303007-67303008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542460903	chr12:67303031-67303032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560619183	chr12:67303111-67303112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556555537	chr12:67303133-67303134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527998816	chr12:67303246-67303247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546217817	chr12:67303278-67303279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564797873	chr12:67303281-67303282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61918780	chr12:67303289-67303290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112756120	chr12:67303293-67303294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530464994	chr12:67303299-67303300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529695665	chr12:67303300-67303301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547991431	chr12:67303313-67303314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565993267	chr12:67303344-67303345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17836565	chr12:67303411-67303412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200723950	chr12:67303432-67303433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570711930	chr12:67303440-67303441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565483004	chr12:67303489-67303490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549221084	chr12:67303573-67303574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556490626	chr12:67303574-67303575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569164671	chr12:67303656-67303657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78389758	chr12:67303677-67303678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547065226	chr12:67303735-67303736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554297296	chr12:67303743-67303744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192336920	chr12:67303750-67303751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147104987	chr12:67303810-67303811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35542290	chr12:67303820-67303821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34688520	chr12:67303846-67303847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564661365	chr12:67303920-67303921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551585065	chr12:67303973-67303974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138544454	chr12:67304008-67304009	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543868340	chr12:67304033-67304034	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562104613	chr12:67304051-67304052	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111692141	chr12:67304076-67304077	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547930460	chr12:67304086-67304087	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7486333	chr12:67304136-67304137	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113255184	chr12:67304148-67304149	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:67298000-67303000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:67298200-67302800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:67298200-67303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:67299200-67302800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:67301200-67304000	Enhancers	Primary T cells from cord blood	blood
7	chr12:67302000-67302800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:67302200-67309000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:67302400-67305200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:67302400-67305200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:67302600-67305400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:67302800-67304000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:67303000-67304200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:67303000-67305000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:67303000-67305000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:67303200-67305000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:67303600-67304400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:67304000-67304400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:67304000-67304400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr12:67304000-67304400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:67304000-67304600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:67304400-67305400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:67304600-67305400	Enhancers	Primary T cells from cord blood	blood
24	chr12:67307600-67309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:67308000-67310200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:67308600-67309000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:67308600-67309200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:67308600-67309800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:67308600-67309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:67308600-67310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:67308600-67310400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:67308600-67310400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:67308600-67311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:67308800-67309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:67308800-67310200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:67308800-67310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:67308800-67310400	Enhancers	Primary T cells from cord blood	blood
38	chr12:67309000-67309200	Enhancers	Colon Smooth Muscle	Colon
39	chr12:67309000-67309600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:67309000-67309600	Enhancers	NHEK	skin
41	chr12:67309000-67309800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:67309000-67310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:67309000-67310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:67309000-67310200	Enhancers	Brain Germinal Matrix	brain
45	chr12:67309000-67310200	Enhancers	Fetal Heart	heart
46	chr12:67309000-67311200	Enhancers	HMEC	breast
47	chr12:67309200-67309400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:67309200-67309600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:67309200-67309600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:67309200-67309600	Enhancers	HUES48 Cell Line	embryonic stem cell

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