Variant report

Variant	nsv976582
Chromosome Location	chr12:20705922-20708561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:20702911..20705964-chr2:133010767..133014432,7	K562	blood:
2	chr12:20702945..20705941-chr21:9824136..9826068,2	MCF-7	breast:
3	chr12:20702878..20705929-chr16:33961732..33966726,6	K562	blood:
4	chr12:20702901..20705980-chr21:9824112..9828819,11	K562	blood:
5	chr12:20704427..20705972-chr20:26188595..26190576,2	MCF-7	breast:
6	chr12:20702917..20705980-chr21:9825010..9828819,10	K562	blood:

Variant related genes	Relation type
ENSG00000227195	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000202174	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 68 )

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	rs543040453	chr12:20705925-20705926	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs561809869	chr12:20705969-20705970	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527553453	chr12:20705987-20705988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547390851	chr12:20706001-20706002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145227642	chr12:20706079-20706080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570270010	chr12:20706087-20706088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201243679	chr12:20706093-20706094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532963138	chr12:20706227-20706228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549456895	chr12:20706256-20706257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569448493	chr12:20706303-20706304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74928928	chr12:20706430-20706431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535083962	chr12:20706439-20706440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55976680	chr12:20706511-20706512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547296505	chr12:20706587-20706588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117543240	chr12:20706629-20706630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377263204	chr12:20706631-20706632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370787355	chr12:20706656-20706657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149150209	chr12:20706683-20706684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558494030	chr12:20706719-20706720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578213305	chr12:20706727-20706728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532753406	chr12:20706747-20706748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375347132	chr12:20706749-20706750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574105258	chr12:20706820-20706821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376454066	chr12:20706849-20706850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542775573	chr12:20706904-20706905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559665391	chr12:20706905-20706906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376885475	chr12:20706916-20706917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528484050	chr12:20706925-20706926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1053309	chr12:20706927-20706928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563366945	chr12:20706964-20706965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539602952	chr12:20706970-20706971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187351018	chr12:20706989-20706990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564081912	chr12:20707006-20707007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201554748	chr12:20707035-20707036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201539769	chr12:20707045-20707046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368228054	chr12:20707056-20707057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367826058	chr12:20707058-20707059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200949106	chr12:20707100-20707101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532945495	chr12:20707107-20707108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549593971	chr12:20707123-20707124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141509785	chr12:20707137-20707138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192996661	chr12:20707160-20707161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532337613	chr12:20707162-20707163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528950819	chr12:20707169-20707170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55719580	chr12:20707210-20707211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202078138	chr12:20707298-20707299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11045302	chr12:20707299-20707300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199587776	chr12:20707300-20707301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12308799	chr12:20707306-20707307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71039955	chr12:20707307-20707308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20704200-20706000	ZNF genes & repeats	Fetal Intestine Large	intestine
2	chr12:20704600-20707200	Weak transcription	K562	blood
3	chr12:20704600-20707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:20704600-20708000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:20704600-20708000	Weak transcription	Left Ventricle	heart
6	chr12:20704600-20708400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:20704600-20708600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:20704600-20708600	Weak transcription	A549	lung
9	chr12:20704600-20708600	Weak transcription	HUVEC	blood vessel
10	chr12:20704600-20709000	Weak transcription	Osteobl	bone
11	chr12:20704600-20709600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:20704600-20709800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:20704600-20709800	Weak transcription	Brain Anterior Caudate	brain
14	chr12:20704600-20709800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:20704600-20710000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:20704600-20710000	Weak transcription	Brain Substantia Nigra	brain
17	chr12:20704600-20710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:20704600-20710200	Weak transcription	Hela-S3	cervix
19	chr12:20704600-20712000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:20704600-20712400	Weak transcription	Fetal Lung	lung
21	chr12:20704600-20713200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:20704600-20713600	Weak transcription	Aorta	Aorta
23	chr12:20704600-20713600	Weak transcription	Right Atrium	heart
24	chr12:20704600-20713800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:20704600-20714400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:20704600-20716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:20704600-20716200	Weak transcription	NHDF-Ad	bronchial
28	chr12:20705000-20706800	Strong transcription	Fetal Intestine Small	intestine
29	chr12:20706000-20709600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:20706800-20746400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:20707200-20707400	Enhancers	K562	blood
32	chr12:20708000-20708200	Genic enhancers	Left Ventricle	heart
33	chr12:20708000-20712000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:20708200-20715200	Weak transcription	Left Ventricle	heart
35	chr12:20708400-20709000	Enhancers	Muscle Satellite Cultured Cells	--

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