Variant report

Variant	esv3383258
Chromosome Location	chr12:528091-532289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71045057	chr12:528165-528166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554112465	chr12:528166-528167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71439339	chr12:528171-528172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550057550	chr12:528219-528220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572611552	chr12:528223-528224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59417991	chr12:528260-528261	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189866692	chr12:528277-528278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547921315	chr12:528328-528329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61919599	chr12:528351-528352	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375433851	chr12:528387-528388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578102102	chr12:528405-528406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554299832	chr12:528414-528415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545718138	chr12:528427-528428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149449363	chr12:528429-528430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12305639	chr12:528452-528453	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558902293	chr12:528456-528457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564077574	chr12:528498-528499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118131029	chr12:528501-528502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182833731	chr12:528542-528543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572481504	chr12:528549-528550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116978457	chr12:528551-528552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375884999	chr12:528559-528560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188930191	chr12:528565-528566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193235619	chr12:528566-528567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531587964	chr12:528585-528586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12307382	chr12:528592-528593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10589883	chr12:528597-528598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150515185	chr12:528617-528618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12307394	chr12:528629-528630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12819580	chr12:528634-528635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4406877	chr12:528644-528645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112142960	chr12:528652-528653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10774177	chr12:528666-528667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150371159	chr12:528671-528672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61919600	chr12:528697-528698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372893007	chr12:528699-528700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10848949	chr12:528717-528718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374130794	chr12:528724-528725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12810566	chr12:528725-528726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4544060	chr12:528739-528740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377734558	chr12:528772-528773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11062879	chr12:528776-528777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529799876	chr12:528778-528779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11062880	chr12:528791-528792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11062881	chr12:528799-528800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10848950	chr12:528813-528814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548298034	chr12:528816-528817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72187328	chr12:528818-528819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76800810	chr12:528850-528851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11062883	chr12:528865-528866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pleomorphic liposarcoma	18784837	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:511600-544600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:512000-545800	Weak transcription	HMEC	breast
3	chr12:512000-549600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:512200-540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:512200-557800	Weak transcription	Fetal Heart	heart
6	chr12:512600-528600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:512600-528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
9	chr12:513600-529000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:513600-529800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:514200-528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:514200-528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:514400-528800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:514800-528600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:518400-528800	Strong transcription	Dnd41	blood
16	chr12:518600-528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:518800-529800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:519400-528600	Strong transcription	Fetal Stomach	stomach
19	chr12:519400-529800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:519600-528600	Strong transcription	Thymus	Thymus
21	chr12:519800-528600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:519800-528600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:519800-528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:519800-528800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:519800-528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:520400-528600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:520800-528600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:520800-528600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:520800-528600	Strong transcription	A549	lung
30	chr12:522000-534400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:522000-541800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:522000-541800	Weak transcription	Pancreas	Pancrea
33	chr12:522000-542000	Weak transcription	HSMMtube	muscle
34	chr12:522000-551800	Weak transcription	NHEK	skin
35	chr12:522800-528600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:523200-528600	Strong transcription	Fetal Thymus	thymus
37	chr12:523600-528600	Strong transcription	Fetal Lung	lung
38	chr12:523800-528600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:524400-528200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:524400-532400	Weak transcription	K562	blood
41	chr12:524400-534400	Weak transcription	Esophagus	oesophagus
42	chr12:524400-541000	Weak transcription	NH-A	brain
43	chr12:524400-541200	Weak transcription	HUVEC	blood vessel
44	chr12:524400-542400	Weak transcription	NHLF	lung
45	chr12:524400-549800	Weak transcription	NHDF-Ad	bronchial
46	chr12:524400-550600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:524400-553600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:524400-556800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:525400-528600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:525400-528600	Strong transcription	Fetal Muscle Trunk	muscle

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