Variant report

Variant	nsv983242
Chromosome Location	chr12:40797402-40802980
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	chr12:40802735..40804254-chr12:40811941..40814562,2	K562	blood:
2	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo
3	chr12:40802843..40805068-chr12:40806902..40808859,2	K562	blood:

Variant related genes	Relation type
ENSG00000205592	chromatin interactions
ENSG00000258167	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148609913	chr12:40797421-40797422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563247826	chr12:40797435-40797436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113730845	chr12:40797455-40797456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146687709	chr12:40797511-40797512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74461358	chr12:40797515-40797516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528611360	chr12:40797529-40797530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547084942	chr12:40797542-40797543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145413334	chr12:40797548-40797549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs202199043	chr12:40797569-40797570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146491834	chr12:40797573-40797574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117725664	chr12:40797582-40797583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569612157	chr12:40797583-40797584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73279551	chr12:40797590-40797591	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548529239	chr12:40797636-40797637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567340450	chr12:40797651-40797652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73094986	chr12:40797734-40797735	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553057170	chr12:40797746-40797747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186860436	chr12:40797782-40797783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114197065	chr12:40797843-40797844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140857625	chr12:40797846-40797847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117033661	chr12:40797862-40797863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191594975	chr12:40797867-40797868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201950123	chr12:40797920-40797921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554432667	chr12:40797923-40797924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150169357	chr12:40797959-40797960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200388666	chr12:40797960-40797961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77849133	chr12:40797965-40797966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540321150	chr12:40797979-40797980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565389025	chr12:40797981-40797982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181124859	chr12:40797986-40797987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58737944	chr12:40797987-40797988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397959436	chr12:40797995-40797996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544665116	chr12:40798035-40798036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138670301	chr12:40798038-40798039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530453999	chr12:40798067-40798068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548881281	chr12:40798108-40798109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566926259	chr12:40798144-40798145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149344784	chr12:40798196-40798197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546340385	chr12:40798211-40798212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571269644	chr12:40798219-40798220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186316711	chr12:40798222-40798223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190427832	chr12:40798223-40798224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182182801	chr12:40798263-40798264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567064124	chr12:40798264-40798265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147045449	chr12:40798266-40798267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186918312	chr12:40798270-40798271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138361990	chr12:40798271-40798272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572910630	chr12:40798280-40798281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574076154	chr12:40798281-40798282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190887633	chr12:40798342-40798343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	20164919	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40787200-40799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:40793800-40799400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:40799000-40799800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:40799200-40799600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:40799200-40799600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:40799200-40799600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:40799400-40799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:40799400-40799800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:40799400-40800200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:40799600-40800000	Enhancers	HMEC	breast
11	chr12:40799600-40813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:40799800-40801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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