Variant report

Variant	nsv976561
Chromosome Location	chr12:7590619-7592246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:7591433..7594130-chr12:7595262..7598140,3	K562	blood:

Variant related genes	Relation type
ENSG00000177675	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182743339	chr12:7590777-7590778	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117950871	chr12:7590814-7590815	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187703108	chr12:7590835-7590836	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193216894	chr12:7590853-7590854	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs36070372	chr12:7590884-7590885	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184989538	chr12:7590967-7590968	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141632814	chr12:7591060-7591061	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114458954	chr12:7591189-7591190	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74754250	chr12:7591277-7591278	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528916469	chr12:7591307-7591308	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35205741	chr12:7591310-7591311	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150579815	chr12:7591314-7591315	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187352087	chr12:7591337-7591338	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565962212	chr12:7591407-7591408	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528424822	chr12:7591415-7591416	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551546300	chr12:7591451-7591452	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs58021951	chr12:7591477-7591478	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200063332	chr12:7591530-7591531	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59581534	chr12:7591536-7591537	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376655705	chr12:7591550-7591551	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192126927	chr12:7591556-7591557	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117265691	chr12:7591564-7591565	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567289505	chr12:7591641-7591642	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536231150	chr12:7591644-7591645	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369900585	chr12:7591677-7591678	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139638620	chr12:7591681-7591682	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58992912	chr12:7591715-7591716	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184719485	chr12:7591719-7591720	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146239194	chr12:7591809-7591810	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34413553	chr12:7591931-7591932	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375391593	chr12:7592009-7592010	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200466398	chr12:7592034-7592035	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10772330	chr12:7592035-7592036	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10772331	chr12:7592139-7592140	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs61748920	chr12:7592194-7592195	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs55991148	chr12:7592203-7592204	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189769125	chr12:7592208-7592209	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7527600-7591200	Weak transcription	Placenta	Placenta
2	chr12:7582600-7592200	Weak transcription	Adipose Nuclei	Adipose
3	chr12:7586000-7591400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:7586600-7592400	Weak transcription	HMEC	breast
5	chr12:7587400-7592200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:7589000-7592200	Weak transcription	HUVEC	blood vessel
7	chr12:7590000-7593400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:7590200-7593200	Active TSS	K562	blood
9	chr12:7591000-7591400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:7591000-7593600	Active TSS	A549	lung
11	chr12:7591200-7591400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:7591200-7591400	Bivalent/Poised TSS	Hela-S3	cervix
13	chr12:7591200-7591600	Flanking Active TSS	Placenta	Placenta
14	chr12:7591200-7591800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:7591200-7593200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:7591200-7593400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:7591400-7591600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:7591400-7591600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:7591400-7592200	Weak transcription	NHEK	skin
20	chr12:7591400-7592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:7591600-7591800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr12:7591600-7592200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:7591600-7592800	Active TSS	Placenta	Placenta
24	chr12:7591800-7592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:7591800-7593000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:7592000-7593400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr12:7592200-7592400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:7592200-7592400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr12:7592200-7592400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:7592200-7592400	Active TSS	Adipose Nuclei	Adipose
31	chr12:7592200-7592600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:7592200-7592600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:7592200-7592600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr12:7592200-7592800	Active TSS	NHEK	skin
35	chr12:7592200-7593000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:7592200-7593000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:7592200-7593000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:7592200-7593000	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:7592200-7593000	Active TSS	NH-A	brain
40	chr12:7592200-7593200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:7592200-7593200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:7592200-7593200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:7592200-7593200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:7592200-7593200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:7592200-7593200	Active TSS	Fetal Brain Female	brain
46	chr12:7592200-7593200	Active TSS	Osteobl	bone
47	chr12:7592200-7593400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:7592200-7593400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:7592200-7593400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:7592200-7593400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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