Variant report

Variant	nsv521937
Chromosome Location	chr12:1075536-1080854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1075735..1077699-chr12:1099129..1101216,2	K562	blood:
2	chr12:1077962..1080607-chr12:1098127..1100490,3	K562	blood:
3	chr12:1079013..1081455-chr12:1084303..1086694,3	K562	blood:

Variant related genes	Relation type
ENSG00000250132	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11614523	chr12:1075536-1075537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572564385	chr12:1075543-1075544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181692926	chr12:1075568-1075569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559567464	chr12:1075653-1075654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528505168	chr12:1075665-1075666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554296788	chr12:1075670-1075671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186751579	chr12:1075692-1075693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569264960	chr12:1075719-1075720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563941752	chr12:1075738-1075739	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536718276	chr12:1075745-1075746	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs371006969	chr12:1075754-1075755	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs138948658	chr12:1075776-1075777	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149427862	chr12:1075840-1075841	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs528644078	chr12:1075849-1075850	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190160016	chr12:1075883-1075884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs144809916	chr12:1075902-1075903	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566639488	chr12:1075912-1075913	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs182421393	chr12:1075942-1075943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs185379490	chr12:1075971-1075972	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs140057574	chr12:1076009-1076010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572673917	chr12:1076012-1076013	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs117334471	chr12:1076032-1076033	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558881871	chr12:1076034-1076035	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs557285527	chr12:1076056-1076057	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115514263	chr12:1076060-1076061	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs76376231	chr12:1076085-1076086	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs576960243	chr12:1076125-1076126	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs189740797	chr12:1076139-1076140	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs555416115	chr12:1076155-1076156	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs574953459	chr12:1076176-1076177	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375961315	chr12:1076196-1076197	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs184067540	chr12:1076260-1076261	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188622610	chr12:1076274-1076275	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575961422	chr12:1076283-1076284	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs546515708	chr12:1076315-1076316	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs564513675	chr12:1076369-1076370	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs528472401	chr12:1076374-1076375	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs546806442	chr12:1076418-1076419	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs562184508	chr12:1076428-1076429	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs143931821	chr12:1076434-1076435	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs371960294	chr12:1076547-1076548	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs398018211	chr12:1076562-1076563	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550712779	chr12:1076644-1076645	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs17833575	chr12:1076704-1076705	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539397971	chr12:1076715-1076716	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551254747	chr12:1076741-1076742	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs116737427	chr12:1076748-1076749	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533750381	chr12:1076816-1076817	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371746802	chr12:1076819-1076820	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555184566	chr12:1076832-1076833	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1063200-1090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1068000-1097600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:1068000-1098600	Weak transcription	Aorta	Aorta
4	chr12:1068200-1086200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:1071000-1088600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:1072800-1097800	Weak transcription	Pancreas	Pancrea
7	chr12:1073200-1099600	Weak transcription	Gastric	stomach
8	chr12:1074200-1097200	Weak transcription	Fetal Stomach	stomach
9	chr12:1074400-1077400	Weak transcription	A549	lung
10	chr12:1075600-1076000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:1075600-1076200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:1075600-1076200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:1075800-1076200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:1075800-1076400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:1076200-1097600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:1076400-1097600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:1076400-1097600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:1076800-1078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:1077200-1077400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:1077200-1077600	Enhancers	Fetal Brain Male	brain
21	chr12:1077200-1077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:1077200-1078000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:1077400-1078000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:1077400-1078000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:1077400-1078000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:1077400-1078000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:1077400-1078000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:1077400-1078200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:1077400-1078200	Enhancers	A549	lung
30	chr12:1077400-1078400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:1077600-1078000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:1077600-1078000	Enhancers	Brain Anterior Caudate	brain
33	chr12:1077600-1078400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:1077600-1097600	Weak transcription	Fetal Brain Male	brain
35	chr12:1077800-1078000	Enhancers	Brain Hippocampus Middle	brain
36	chr12:1077800-1078000	Enhancers	Fetal Brain Female	brain
37	chr12:1077800-1097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:1078000-1086000	Weak transcription	Brain Anterior Caudate	brain
39	chr12:1078000-1097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:1078000-1097600	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:1078000-1097600	Weak transcription	Fetal Brain Female	brain
42	chr12:1078000-1099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:1078200-1078400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:1078400-1097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:1079200-1097600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:1079800-1080000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:1079800-1080200	Enhancers	Fetal Heart	heart
48	chr12:1080000-1085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:1080200-1086400	Weak transcription	Fetal Heart	heart
50	chr12:1080800-1081400	Active TSS	Placenta	Placenta

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