Variant report

Variant	nsv983370
Chromosome Location	chr12:120899267-120900634
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120882535..120885359-chr12:120897343..120900441,3	MCF-7	breast:
2	chr12:120882535..120884413-chr12:120897704..120900526,2	K562	blood:
3	chr12:120883704..120885256-chr12:120900528..120902956,2	MCF-7	breast:
4	chr12:120875383..120878064-chr12:120896975..120899975,3	K562	blood:
5	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:
6	chr12:120897825..120899492-chr12:120906737..120908885,2	MCF-7	breast:
7	chr12:120900073..120901692-chr12:120934006..120935679,2	K562	blood:
8	chr12:120729038..120732035-chr12:120899185..120901880,2	MCF-7	breast:
9	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
10	chr12:120881273..120884035-chr12:120898335..120900526,2	K562	blood:
11	chr12:120884534..120886315-chr12:120897989..120899964,2	K562	blood:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SFRS9	hsa-miR-30d-5p	chr12:120899498-120899523
2	SRSF9	hsa-miR-1	chr12:120899756-120899749
3	SFRS9	hsa-miR-30d-5p	chr12:120899477-120899498
4	SFRS9	hsa-miR-30a-5p	chr12:120899477-120899497
5	SFRS9	hsa-miR-30a-5p	chr12:120899498-120899519
6	SFRS9	hsa-miR-1	chr12:120899750-120899771

Variant related genes	Relation type
ENSG00000111786	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000219355	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000170855	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575378839	chr12:120899268-120899269	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs544420072	chr12:120899280-120899281	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs563807114	chr12:120899400-120899401	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs532871032	chr12:120899424-120899425	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs529010748	chr12:120899502-120899503	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	7 gene(s)	Overlapped CNVs	n/a
6	rs114832191	chr12:120899521-120899522	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	7 gene(s)	Overlapped CNVs	n/a
7	rs142287809	chr12:120899612-120899613	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs200337069	chr12:120899702-120899703	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs528770912	chr12:120899717-120899718	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs201309578	chr12:120899757-120899758	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	7 gene(s)	Overlapped CNVs	n/a
11	rs372204543	chr12:120899772-120899773	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs146381618	chr12:120899775-120899776	Strong transcription Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs376520463	chr12:120899786-120899787	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs370436477	chr12:120899844-120899845	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs139360328	chr12:120899883-120899884	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs201844994	chr12:120899912-120899913	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs148192217	chr12:120899919-120899920	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs369508115	chr12:120900058-120900059	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs499344	chr12:120900109-120900110	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112862349	chr12:120900119-120900120	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs541527276	chr12:120900213-120900214	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs150028178	chr12:120900248-120900249	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs180861307	chr12:120900252-120900253	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs528365550	chr12:120900264-120900265	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs9040	chr12:120900274-120900275	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555347578	chr12:120900292-120900293	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs576156041	chr12:120900319-120900320	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs527648213	chr12:120900345-120900346	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs570791352	chr12:120900374-120900375	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs185067613	chr12:120900401-120900402	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs116986797	chr12:120900429-120900430	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs563940433	chr12:120900430-120900431	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs577312119	chr12:120900480-120900481	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs539978151	chr12:120900496-120900497	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs144330540	chr12:120900513-120900514	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs10744752	chr12:120900554-120900555	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs570172418	chr12:120900556-120900557	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs542627938	chr12:120900565-120900566	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs3177841	chr12:120900591-120900592	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
6	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
9	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
14	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
19	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:120887200-120903200	Strong transcription	Dnd41	blood
21	chr12:120887200-120903400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:120888000-120904000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:120888600-120905800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:120889600-120904400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:120889800-120904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:120890000-120903400	Strong transcription	A549	lung
28	chr12:120890000-120903600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:120890200-120904000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr12:120890200-120904000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:120890200-120904400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:120890400-120903400	Strong transcription	Fetal Lung	lung
33	chr12:120890400-120905800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:120890600-120905400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:120891000-120905800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:120891200-120904400	Strong transcription	K562	blood
37	chr12:120891200-120905600	Strong transcription	Placenta	Placenta
38	chr12:120891200-120905800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:120891400-120903600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:120891400-120904000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:120891600-120903600	Strong transcription	Liver	Liver
42	chr12:120891600-120904600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:120891600-120905200	Strong transcription	Fetal Intestine Large	intestine
44	chr12:120892200-120902800	Strong transcription	Spleen	Spleen
45	chr12:120892200-120903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:120892400-120902000	Strong transcription	Right Ventricle	heart
47	chr12:120892400-120905000	Strong transcription	Primary T cells from cord blood	blood
48	chr12:120892400-120905600	Strong transcription	Fetal Intestine Small	intestine
49	chr12:120892600-120903600	Strong transcription	Brain Hippocampus Middle	brain
50	chr12:120892600-120903800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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