Variant report

Variant	nsv528492
Chromosome Location	chr12:4462161-4473329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4464997..4465778-chr12:4635809..4636743,3	K562	blood:
2	chr12:4462645..4463521-chr12:4635539..4636424,3	MCF-7	breast:
3	chr12:4465014..4465763-chr12:4530635..4531275,2	K562	blood:
4	chr12:4464912..4465712-chr12:4530622..4531249,2	MCF-7	breast:

Extended variants
information (count: 496 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1046165	chr12:4462161-4462162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551998332	chr12:4462181-4462182	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370413375	chr12:4462212-4462213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553286146	chr12:4462241-4462242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370147440	chr12:4462246-4462247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190851470	chr12:4462361-4462362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183362897	chr12:4462364-4462365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561460323	chr12:4462411-4462412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373227378	chr12:4462425-4462426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554455941	chr12:4462442-4462443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11063099	chr12:4462505-4462506	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs537080478	chr12:4462520-4462521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142462447	chr12:4462551-4462552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17700406	chr12:4462598-4462599	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs576913076	chr12:4462617-4462618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58163835	chr12:4462677-4462678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72250196	chr12:4462678-4462679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397960016	chr12:4462679-4462680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545221603	chr12:4462680-4462681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60591544	chr12:4462681-4462682	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190971108	chr12:4462684-4462685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573486573	chr12:4462694-4462695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542407765	chr12:4462695-4462696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530873177	chr12:4462739-4462740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138786908	chr12:4462745-4462746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183115585	chr12:4462773-4462774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368890680	chr12:4462811-4462812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564318826	chr12:4462813-4462814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533308823	chr12:4462824-4462825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544607990	chr12:4462841-4462842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149407420	chr12:4462853-4462854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188150911	chr12:4462873-4462874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374376743	chr12:4462906-4462907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192931781	chr12:4462914-4462915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547963589	chr12:4462915-4462916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144769894	chr12:4462948-4462949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530158984	chr12:4462954-4462955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546798257	chr12:4462955-4462956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556966862	chr12:4462957-4462958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570357636	chr12:4462961-4462962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539399297	chr12:4462964-4462965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553120145	chr12:4462975-4462976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146638352	chr12:4462977-4462978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370008245	chr12:4462978-4462979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201061629	chr12:4462999-4463000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182740620	chr12:4463013-4463014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536090471	chr12:4463019-4463020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375157135	chr12:4463020-4463021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7296130	chr12:4463032-4463033	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528760935	chr12:4463034-4463035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
2	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
5	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
6	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
7	chr12:4433200-4463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:4434000-4465000	Weak transcription	Esophagus	oesophagus
9	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:4441800-4463600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:4443400-4464800	Weak transcription	Fetal Brain Male	brain
12	chr12:4443600-4463400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:4447400-4464800	Weak transcription	Right Ventricle	heart
14	chr12:4447600-4462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:4447600-4464400	Weak transcription	Spleen	Spleen
16	chr12:4447600-4464800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:4447800-4464200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:4448000-4462600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:4448000-4464800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:4448600-4462600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:4449000-4463800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:4449200-4462200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:4449200-4465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:4449400-4466000	Weak transcription	NHDF-Ad	bronchial
25	chr12:4450000-4465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:4455600-4465000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:4456000-4462600	Strong transcription	Primary B cells from cord blood	blood
28	chr12:4456000-4462600	Strong transcription	HSMM	muscle
29	chr12:4456000-4463000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:4456000-4463600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:4456000-4463800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:4456000-4463800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:4456000-4463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:4456000-4463800	Strong transcription	HMEC	breast
35	chr12:4456000-4464000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:4456000-4464800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:4456000-4464800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:4456000-4465200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:4456400-4464800	Weak transcription	Brain Angular Gyrus	brain
40	chr12:4457600-4462800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:4457600-4462800	Strong transcription	GM12878-XiMat	blood
42	chr12:4457600-4463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:4457600-4463800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:4457600-4463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:4457600-4464000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:4457800-4463800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:4458000-4462600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:4458000-4462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:4458000-4464800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:4458200-4462800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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