Variant report

Variant	nsv438212
Chromosome Location	chr12:57013844-57015133
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56973940..56975962-chr12:57014825..57017431,2	MCF-7	breast:
2	chr12:57004812..57007762-chr12:57013196..57018019,5	MCF-7	breast:
3	chr12:57009522..57015507-chr12:57021199..57030351,9	MCF-7	breast:
4	chr12:57007576..57011476-chr12:57012265..57014896,4	K562	blood:
5	chr12:57011192..57013564-chr12:57014925..57017700,3	K562	blood:
6	chr12:57008148..57010026-chr12:57012306..57015125,2	MCF-7	breast:
7	chr12:57014744..57016426-chr12:57019361..57021308,2	K562	blood:
8	chr12:57006227..57008804-chr12:57012388..57014898,2	MCF-7	breast:
9	chr12:57012523..57015278-chr12:57016203..57018882,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000076108	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7974103	chr12:57013844-57013845	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182651307	chr12:57013846-57013847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531596472	chr12:57013862-57013863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550294440	chr12:57013886-57013887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149467702	chr12:57013893-57013894	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115559657	chr12:57013902-57013903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553064925	chr12:57013909-57013910	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572992429	chr12:57013944-57013945	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546559926	chr12:57013950-57013951	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547549968	chr12:57013966-57013967	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61318927	chr12:57014003-57014004	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188842035	chr12:57014015-57014016	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368716909	chr12:57014020-57014021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76850792	chr12:57014043-57014044	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569675814	chr12:57014072-57014073	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536640903	chr12:57014076-57014077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558647576	chr12:57014085-57014086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576850271	chr12:57014106-57014107	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56364503	chr12:57014113-57014114	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190944937	chr12:57014176-57014177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144380394	chr12:57014179-57014180	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201908367	chr12:57014253-57014254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574788799	chr12:57014272-57014273	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545138726	chr12:57014283-57014284	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555304518	chr12:57014284-57014285	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183148363	chr12:57014286-57014287	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201442015	chr12:57014303-57014304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187488855	chr12:57014321-57014322	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11367195	chr12:57014348-57014349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563569157	chr12:57014379-57014380	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544217712	chr12:57014381-57014382	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544721673	chr12:57014412-57014413	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531758638	chr12:57014446-57014447	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543433700	chr12:57014453-57014454	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371751685	chr12:57014500-57014501	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565391477	chr12:57014530-57014531	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532470846	chr12:57014539-57014540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547588083	chr12:57014571-57014572	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148384715	chr12:57014594-57014595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530221296	chr12:57014595-57014596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548518239	chr12:57014626-57014627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141589013	chr12:57014637-57014638	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558236598	chr12:57014657-57014658	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs55877446	chr12:57014703-57014704	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570551921	chr12:57014712-57014713	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564500054	chr12:57014713-57014714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553924703	chr12:57014722-57014723	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553216094	chr12:57014757-57014758	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147500929	chr12:57014777-57014778	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542021800	chr12:57014825-57014826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Thoracic aortic aneurysm	21092924	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
2	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
3	chr12:56987600-57014800	Strong transcription	Adipose Nuclei	Adipose
4	chr12:56987600-57021000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
9	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:56989000-57017600	Strong transcription	Fetal Intestine Large	intestine
16	chr12:56989400-57019000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:56989400-57020000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:56989600-57017400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:56989800-57014800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:56990400-57016600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:56990600-57016400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:56990800-57014000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:56990800-57016600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:56991000-57018000	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:56991000-57022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:56991400-57015000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:56991400-57015000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:56991600-57015000	Strong transcription	Fetal Lung	lung
29	chr12:56991600-57017000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:56991600-57018200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:56992000-57015600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:56994200-57021200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:56995000-57021400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:56996400-57016200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:56996600-57016800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:57002600-57016200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:57002800-57015200	Strong transcription	NHEK	skin
38	chr12:57003000-57015000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:57003000-57015400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:57003000-57016800	Strong transcription	Primary B cells from cord blood	blood
41	chr12:57003200-57017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:57006200-57017800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:57009000-57017000	Weak transcription	Psoas Muscle	Psoas
44	chr12:57009800-57022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:57010400-57022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:57010800-57014800	Weak transcription	Fetal Kidney	kidney
47	chr12:57010800-57022000	Weak transcription	Small Intestine	intestine
48	chr12:57011000-57014000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:57011000-57014600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:57011000-57015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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