Variant report

Variant	nsv826295
Chromosome Location	chr12:30130336-30207775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30130967..30132688-chr12:30459870..30462012,2	MCF-7	breast:
2	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:
3	chr12:30161244..30163502-chr12:30164390..30167375,2	K562	blood:

Extended variants
information (count: 2180 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550426290	chr12:30132827-30132828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191155377	chr12:30132828-30132829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562659316	chr12:30132836-30132837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539336895	chr12:30132838-30132839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547735389	chr12:30132848-30132849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149102449	chr12:30132869-30132870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368167444	chr12:30132887-30132888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371625365	chr12:30132937-30132938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12811534	chr12:30132959-30132960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79537985	chr12:30132969-30132970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537118647	chr12:30132971-30132972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558731127	chr12:30132975-30132976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576922817	chr12:30132988-30132989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369257174	chr12:30133011-30133012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541320827	chr12:30133074-30133075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16935160	chr12:30133108-30133109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574667853	chr12:30133132-30133133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143148734	chr12:30133134-30133135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575937339	chr12:30133139-30133140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530647143	chr12:30133152-30133153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543286925	chr12:30133161-30133162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552270627	chr12:30133199-30133200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541003760	chr12:30133623-30133624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188823593	chr12:30133644-30133645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73282326	chr12:30133651-30133652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566114081	chr12:30133704-30133705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67137600	chr12:30133718-30133719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192697757	chr12:30133729-30133730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564076865	chr12:30133768-30133769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528171578	chr12:30133789-30133790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541290480	chr12:30133806-30133807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559867481	chr12:30133833-30133834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11050594	chr12:30133919-30133920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548431912	chr12:30133921-30133922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141962533	chr12:30133939-30133940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36124845	chr12:30134017-30134018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552534489	chr12:30134064-30134065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531253851	chr12:30134082-30134083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570890929	chr12:30134087-30134088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35377402	chr12:30134100-30134101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552915220	chr12:30134110-30134111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139768230	chr12:30134111-30134112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377104371	chr12:30134147-30134148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557248952	chr12:30134149-30134150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149636756	chr12:30134156-30134157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183076710	chr12:30134158-30134159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541754967	chr12:30134186-30134187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557711485	chr12:30134190-30134191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572872101	chr12:30134191-30134192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540287403	chr12:30134203-30134204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30132800-30133200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:30133600-30134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:30134200-30134400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30136000-30136400	Enhancers	Ovary	ovary
5	chr12:30136600-30137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:30138000-30139400	Enhancers	Aorta	Aorta
7	chr12:30139400-30143400	Weak transcription	Aorta	Aorta
8	chr12:30142800-30144600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:30143800-30144400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:30143800-30144800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:30143800-30145400	Enhancers	NH-A	brain
12	chr12:30144000-30144800	Enhancers	HSMM	muscle
13	chr12:30144200-30145000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:30144400-30144800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:30144800-30145400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:30144800-30145600	Enhancers	Hela-S3	cervix
17	chr12:30145200-30145600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:30145400-30146600	Weak transcription	NH-A	brain
19	chr12:30146600-30146800	Enhancers	NH-A	brain
20	chr12:30152400-30153800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:30152600-30153800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:30152800-30154200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:30153400-30153800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:30153600-30154000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:30154200-30156800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:30155400-30155600	Enhancers	Hela-S3	cervix
27	chr12:30155600-30156200	Weak transcription	Hela-S3	cervix
28	chr12:30156200-30156800	Enhancers	Hela-S3	cervix
29	chr12:30156800-30157200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:30157000-30157200	Enhancers	Aorta	Aorta
31	chr12:30157200-30158400	Weak transcription	Aorta	Aorta
32	chr12:30157200-30163400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:30158400-30159600	Enhancers	Aorta	Aorta
34	chr12:30159400-30159600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:30159600-30162000	Weak transcription	Aorta	Aorta
36	chr12:30159800-30166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:30162000-30162200	Enhancers	Aorta	Aorta
38	chr12:30162200-30175400	Weak transcription	Aorta	Aorta
39	chr12:30162800-30164000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:30163000-30164000	Enhancers	NH-A	brain
41	chr12:30163200-30164000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:30163200-30164400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:30163400-30164000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:30163600-30164000	Enhancers	Fetal Kidney	kidney
45	chr12:30164000-30168800	Weak transcription	Fetal Kidney	kidney
46	chr12:30164400-30165800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:30164600-30169600	Enhancers	Fetal Brain Male	brain
48	chr12:30165800-30166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:30166000-30166200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:30166000-30166800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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