Variant report

Variant	nsv973050
Chromosome Location	chr12:31433387-31435292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31431407..31434228-chr12:31440191..31441794,2	MCF-7	breast:
2	chr12:31431393..31434433-chr12:31435348..31438398,4	K562	blood:
3	chr12:31433746..31435306-chr12:31477957..31479847,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FAM60A	hsa-miR-320a	chr12:31433853-31433872
2	FAM60A	hsa-miR-320a	chr12:31434102-31434124

Variant related genes	Relation type
ENSG00000139146	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557959884	chr12:31433389-31433390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191022346	chr12:31433417-31433418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572309352	chr12:31433428-31433429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369314912	chr12:31433443-31433444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540378501	chr12:31433452-31433453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553953496	chr12:31433550-31433551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543102808	chr12:31433557-31433558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370367945	chr12:31433559-31433560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573957455	chr12:31433572-31433573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561370754	chr12:31433754-31433755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183161378	chr12:31433803-31433804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542933681	chr12:31433836-31433837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114220529	chr12:31433844-31433845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530412707	chr12:31433899-31433900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544237118	chr12:31433905-31433906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544488676	chr12:31433932-31433933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564025752	chr12:31433940-31433941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533064753	chr12:31433944-31433945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546778554	chr12:31433998-31433999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566688714	chr12:31434035-31434036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186050692	chr12:31434077-31434078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529174421	chr12:31434122-31434123	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
23	rs548990344	chr12:31434130-31434131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12815694	chr12:31434145-31434146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191541590	chr12:31434216-31434217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537846969	chr12:31434226-31434227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375176011	chr12:31434263-31434264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576476123	chr12:31434277-31434278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571363604	chr12:31434288-31434289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534040877	chr12:31434318-31434319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4015564	chr12:31434465-31434466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553918084	chr12:31434610-31434611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3741872	chr12:31434615-31434616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4015565	chr12:31434662-31434663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4015566	chr12:31434667-31434668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs3741873	chr12:31434672-31434673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183309337	chr12:31434697-31434698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576721780	chr12:31434718-31434719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4015567	chr12:31434726-31434727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543816150	chr12:31434777-31434778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564119818	chr12:31434783-31434784	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187800117	chr12:31434792-31434793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3953534	chr12:31434813-31434814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540351409	chr12:31434876-31434877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4015568	chr12:31434895-31434896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4015569	chr12:31434926-31434927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532816843	chr12:31434973-31434974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4015570	chr12:31434999-31435000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4015571	chr12:31435043-31435044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs59295865	chr12:31435061-31435062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31413800-31435800	Weak transcription	HMEC	breast
2	chr12:31413800-31449200	Weak transcription	Pancreas	Pancrea
3	chr12:31414600-31439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:31421600-31435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:31422600-31439200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:31422800-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:31422800-31441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:31423400-31435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:31424000-31438600	Weak transcription	Ovary	ovary
10	chr12:31424400-31437600	Weak transcription	Thymus	Thymus
11	chr12:31424600-31436800	Weak transcription	Hela-S3	cervix
12	chr12:31425000-31437000	Weak transcription	Fetal Kidney	kidney
13	chr12:31425200-31436600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:31426000-31435400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:31426000-31435600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:31426000-31435600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:31426000-31436600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:31426000-31437200	Weak transcription	HSMMtube	muscle
19	chr12:31426000-31437600	Weak transcription	Colonic Mucosa	Colon
20	chr12:31426000-31460200	Weak transcription	Aorta	Aorta
21	chr12:31426200-31435400	Weak transcription	Liver	Liver
22	chr12:31426200-31436600	Weak transcription	Fetal Brain Female	brain
23	chr12:31426600-31435800	Weak transcription	NH-A	brain
24	chr12:31427000-31447000	Weak transcription	NHLF	lung
25	chr12:31427200-31441400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:31427200-31459800	Weak transcription	Gastric	stomach
27	chr12:31427400-31433400	Strong transcription	Primary T cells from cord blood	blood
28	chr12:31427400-31433400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:31427400-31433400	Strong transcription	Dnd41	blood
30	chr12:31427400-31442600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:31427600-31437200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:31427600-31460800	Strong transcription	Fetal Thymus	thymus
33	chr12:31427800-31439200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:31428000-31435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:31428000-31435400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:31428000-31439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:31428200-31435200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:31428200-31439400	Weak transcription	Spleen	Spleen
39	chr12:31428200-31441600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:31428600-31435600	Weak transcription	Osteobl	bone
41	chr12:31428600-31458600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:31428600-31470000	Weak transcription	Small Intestine	intestine
43	chr12:31428800-31433600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:31428800-31433600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:31428800-31435200	Weak transcription	HUVEC	blood vessel
46	chr12:31429200-31433800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:31429200-31437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:31429400-31433400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:31429400-31433400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:31429400-31433400	Strong transcription	Rectal Mucosa Donor 29	rectum

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