Variant report

Variant	nsv1036522
Chromosome Location	chr12:42926075-42961887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42919872..42921668-chr12:42939994..42942201,2	K562	blood:

Extended variants
information (count: 1218 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542580538	chr12:42926078-42926079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12821783	chr12:42926153-42926154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185275408	chr12:42926187-42926188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566910683	chr12:42926233-42926234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189808558	chr12:42926311-42926312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2924131	chr12:42926336-42926337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570943935	chr12:42926426-42926427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538471420	chr12:42926428-42926429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556865248	chr12:42926440-42926441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575223485	chr12:42926462-42926463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544059511	chr12:42926470-42926471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541804860	chr12:42926481-42926482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11181544	chr12:42926568-42926569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572052313	chr12:42926608-42926609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545571514	chr12:42926623-42926624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564240595	chr12:42926647-42926648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531377294	chr12:42926655-42926656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1669945	chr12:42926657-42926658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565466616	chr12:42926672-42926673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367754333	chr12:42926696-42926697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11413258	chr12:42926697-42926698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397973877	chr12:42926713-42926714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79339447	chr12:42926715-42926716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532633096	chr12:42926726-42926727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114590695	chr12:42926833-42926834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541725518	chr12:42926871-42926872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1669944	chr12:42926878-42926879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186235198	chr12:42926903-42926904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201040298	chr12:42926960-42926961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58204089	chr12:42926962-42926963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552371403	chr12:42926985-42926986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145016139	chr12:42927003-42927004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188652689	chr12:42927012-42927013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76968634	chr12:42927016-42927017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569595151	chr12:42927043-42927044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375950043	chr12:42927052-42927053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538403987	chr12:42927060-42927061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs721722	chr12:42927085-42927086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180781832	chr12:42927154-42927155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185231921	chr12:42927163-42927164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61924427	chr12:42927171-42927172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190868018	chr12:42927177-42927178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570603831	chr12:42927193-42927194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562343141	chr12:42927194-42927195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149754482	chr12:42927214-42927215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183642298	chr12:42927284-42927285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1669943	chr12:42927331-42927332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576096851	chr12:42927443-42927444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530512347	chr12:42927490-42927491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146749383	chr12:42927537-42927538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42913800-42957600	Weak transcription	HMEC	breast
6	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
8	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:42915000-42928000	Weak transcription	Left Ventricle	heart
10	chr12:42917600-42928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:42919000-42942400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:42919200-42933600	Weak transcription	HSMMtube	muscle
13	chr12:42919200-42935400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:42919400-42928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:42919600-42941000	Weak transcription	NH-A	brain
16	chr12:42919800-42929400	Weak transcription	HUVEC	blood vessel
17	chr12:42921000-42939800	Weak transcription	HSMM	muscle
18	chr12:42921600-42927200	Weak transcription	Fetal Heart	heart
19	chr12:42923800-42943200	Weak transcription	Fetal Stomach	stomach
20	chr12:42925800-42938600	Weak transcription	Osteobl	bone
21	chr12:42926000-42928000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:42926400-42940400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:42926600-42927800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:42927200-42930400	Enhancers	Fetal Heart	heart
25	chr12:42927600-42928200	Enhancers	Spleen	Spleen
26	chr12:42928000-42928800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:42928000-42929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:42928000-42929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:42928000-42929600	Enhancers	Left Ventricle	heart
30	chr12:42928200-42946600	Weak transcription	Spleen	Spleen
31	chr12:42928400-42929000	Enhancers	Right Ventricle	heart
32	chr12:42928800-42929600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:42929000-42929200	Enhancers	Fetal Kidney	kidney
34	chr12:42929000-42933600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:42929200-42944600	Weak transcription	Fetal Kidney	kidney
36	chr12:42929400-42929600	Enhancers	HUVEC	blood vessel
37	chr12:42929400-42929800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:42929600-42930000	Genic enhancers	HUVEC	blood vessel
39	chr12:42929600-42935200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:42929600-42950200	Weak transcription	Left Ventricle	heart
41	chr12:42929800-42930200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:42930000-42930600	Enhancers	HUVEC	blood vessel
43	chr12:42930200-42931800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:42930400-42931400	Weak transcription	Fetal Heart	heart
45	chr12:42930600-42931200	Weak transcription	HUVEC	blood vessel
46	chr12:42931200-42932600	Strong transcription	HUVEC	blood vessel
47	chr12:42931400-42932600	Enhancers	Fetal Heart	heart
48	chr12:42931800-42933200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:42932000-42932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:42932600-42933800	Weak transcription	Fetal Heart	heart

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