Variant report

Variant	nsv556872
Chromosome Location	chr12:529184-530805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71293146	chr12:529214-529215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368353141	chr12:529216-529217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71293145	chr12:529234-529235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56391072	chr12:529237-529238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61919601	chr12:529242-529243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186786678	chr12:529256-529257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368063268	chr12:529289-529290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570145285	chr12:529290-529291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535981733	chr12:529292-529293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150274652	chr12:529307-529308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368098269	chr12:529315-529316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71215717	chr12:529329-529330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552919372	chr12:529333-529334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150690357	chr12:529361-529362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373686697	chr12:529364-529365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377123570	chr12:529382-529383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141729061	chr12:529390-529391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75536532	chr12:529404-529405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373171794	chr12:529409-529410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11346348	chr12:529440-529441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71435008	chr12:529457-529458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75198068	chr12:529465-529466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202153643	chr12:529479-529480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377454672	chr12:529484-529485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67755058	chr12:529512-529513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555470041	chr12:529514-529515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76793816	chr12:529516-529517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111533845	chr12:529518-529519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71435009	chr12:529531-529532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75221100	chr12:529538-529539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74919761	chr12:529539-529540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111785430	chr12:529547-529548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374332151	chr12:529558-529559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79744486	chr12:529590-529591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61919602	chr12:529605-529606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373949715	chr12:529632-529633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201055487	chr12:529664-529665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372385573	chr12:529687-529688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200409135	chr12:529701-529702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373399545	chr12:529706-529707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574571619	chr12:529707-529708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375605424	chr12:529726-529727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67899185	chr12:529734-529735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78539442	chr12:529753-529754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111585938	chr12:529812-529813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369519760	chr12:529827-529828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61919603	chr12:529849-529850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201516191	chr12:529862-529863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200119080	chr12:529883-529884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536847308	chr12:529908-529909	Weak 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:128 , 50 per page) page: 1 2 3

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	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
7	chr12:513600-529800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:518800-529800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:519400-529800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:522000-534400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:522000-541800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:522000-541800	Weak transcription	Pancreas	Pancrea
13	chr12:522000-542000	Weak transcription	HSMMtube	muscle
14	chr12:522000-551800	Weak transcription	NHEK	skin
15	chr12:524400-532400	Weak transcription	K562	blood
16	chr12:524400-534400	Weak transcription	Esophagus	oesophagus
17	chr12:524400-541000	Weak transcription	NH-A	brain
18	chr12:524400-541200	Weak transcription	HUVEC	blood vessel
19	chr12:524400-542400	Weak transcription	NHLF	lung
20	chr12:524400-549800	Weak transcription	NHDF-Ad	bronchial
21	chr12:524400-550600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:524400-553600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:524400-556800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:525400-532800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:525800-529800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:526200-557800	Weak transcription	Stomach Mucosa	stomach
27	chr12:526400-545600	Weak transcription	Psoas Muscle	Psoas
28	chr12:526600-541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:526800-534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:528000-552600	Weak transcription	Osteobl	bone
31	chr12:528200-532800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:528200-533400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:528200-534200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:528400-531200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:528400-531400	Weak transcription	Ovary	ovary
36	chr12:528400-532800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:528400-534400	Weak transcription	Liver	Liver
38	chr12:528400-534400	Weak transcription	Gastric	stomach
39	chr12:528400-534400	Weak transcription	Left Ventricle	heart
40	chr12:528400-534400	Weak transcription	GM12878-XiMat	blood
41	chr12:528400-540800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:528400-542400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:528600-531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:528600-531200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:528600-531200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:528600-531400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:528600-531400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:528600-531400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:528600-531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:528600-531400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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