Variant report

Variant	nsv558029
Chromosome Location	chr12:30678625-30707035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:30659100..30661387-chr12:30684901..30687709,2	K562	blood:
2	chr12:30683267..30686430-chr12:30686853..30688621,3	K562	blood:
3	chr12:30698138..30700948-chr12:30704546..30706806,2	K562	blood:
4	chr12:30680046..30681549-chr12:30683621..30685780,2	K562	blood:
5	chr12:30682382..30684613-chr12:30748743..30750723,2	K562	blood:
6	chr12:30698138..30700948-chr12:30704546..30706806,2	K562	blood:
7	chr12:30683267..30686430-chr12:30686853..30688621,3	K562	blood:
8	chr12:30703053..30705824-chr12:30708550..30710660,2	K562	blood:
9	chr12:30680046..30681549-chr12:30683621..30685780,2	K562	blood:

No data

Extended variants
information (count: 734 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10843773	chr12:30678625-30678626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73081893	chr12:30678633-30678634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370956297	chr12:30678687-30678688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545202148	chr12:30678690-30678691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560421479	chr12:30678740-30678741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527497509	chr12:30678742-30678743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568613257	chr12:30678766-30678767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567250554	chr12:30678773-30678774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117576994	chr12:30678774-30678775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191642914	chr12:30678781-30678782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61921141	chr12:30678782-30678783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs370554859	chr12:30678797-30678798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73081894	chr12:30678810-30678811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73081897	chr12:30678820-30678821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76343187	chr12:30678839-30678840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76965505	chr12:30678861-30678862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555792083	chr12:30678876-30678877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73081899	chr12:30678911-30678912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73081901	chr12:30678967-30678968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183782914	chr12:30678977-30678978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188463411	chr12:30678978-30678979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545288040	chr12:30679045-30679046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73083703	chr12:30679065-30679066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527433087	chr12:30679141-30679142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545950762	chr12:30679148-30679149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138393246	chr12:30679158-30679159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564346152	chr12:30679181-30679182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531337619	chr12:30679190-30679191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549738206	chr12:30679193-30679194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371934711	chr12:30679215-30679216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374938668	chr12:30679257-30679258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141601858	chr12:30679290-30679291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551613180	chr12:30679291-30679292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369345363	chr12:30679357-30679358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576278743	chr12:30679363-30679364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536142732	chr12:30679392-30679393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373022255	chr12:30679473-30679474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547624840	chr12:30679491-30679492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573978849	chr12:30679499-30679500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11834707	chr12:30679524-30679525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567725794	chr12:30679572-30679573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537989216	chr12:30679584-30679585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180820122	chr12:30679623-30679624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185827521	chr12:30679676-30679677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190301803	chr12:30679684-30679685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554066424	chr12:30679741-30679742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375024682	chr12:30679758-30679759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113967125	chr12:30679807-30679808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544592968	chr12:30679814-30679815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113786093	chr12:30679865-30679866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30672600-30681200	Weak transcription	K562	blood
2	chr12:30672600-30686800	Weak transcription	Ovary	ovary
3	chr12:30678400-30680000	Weak transcription	Pancreas	Pancrea
4	chr12:30681200-30684200	Enhancers	K562	blood
5	chr12:30683200-30684800	Weak transcription	Pancreas	Pancrea
6	chr12:30684200-30685000	Enhancers	HepG2	liver
7	chr12:30684200-30685400	Flanking Active TSS	K562	blood
8	chr12:30684800-30686000	Enhancers	Pancreas	Pancrea
9	chr12:30685400-30686000	Enhancers	K562	blood
10	chr12:30685600-30687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:30685800-30686800	Enhancers	Fetal Stomach	stomach
12	chr12:30686000-30686800	Weak transcription	K562	blood
13	chr12:30686000-30689400	Weak transcription	Pancreas	Pancrea
14	chr12:30686200-30687000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:30686200-30687000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:30686200-30687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:30686800-30687000	Enhancers	K562	blood
18	chr12:30686800-30687200	Enhancers	Brain Germinal Matrix	brain
19	chr12:30686800-30687200	Enhancers	Ovary	ovary
20	chr12:30686800-30689400	Weak transcription	Fetal Stomach	stomach
21	chr12:30686800-30690200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:30687000-30687400	Enhancers	Adipose Nuclei	Adipose
23	chr12:30688400-30689600	Enhancers	Fetal Heart	heart
24	chr12:30688600-30689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:30688600-30689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:30689000-30689200	Enhancers	Brain Germinal Matrix	brain
27	chr12:30689400-30689600	Enhancers	Pancreas	Pancrea
28	chr12:30689400-30689800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:30689400-30689800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:30689400-30689800	Enhancers	Fetal Stomach	stomach
31	chr12:30695800-30697400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:30697400-30698400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:30698400-30699600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:30698600-30699200	Enhancers	NHEK	skin
35	chr12:30698600-30699600	Enhancers	HMEC	breast
36	chr12:30698800-30699200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:30698800-30699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:30698800-30699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:30699000-30699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:30699200-30699600	Enhancers	Hela-S3	cervix
41	chr12:30699200-30700800	Enhancers	Esophagus	oesophagus
42	chr12:30701000-30701400	Enhancers	Fetal Heart	heart

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