Variant report

Variant	nsv983298
Chromosome Location	chr12:29810275-29812743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:29812261-29812774	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OVCH1-3	chr12:29811309-29811731	NONHSAT027496

Variant related genes	Relation type
ENSG00000242986	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565925075	chr12:29810307-29810308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536657082	chr12:29810355-29810356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142549391	chr12:29810371-29810372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146749550	chr12:29810415-29810416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537186034	chr12:29810451-29810452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113226200	chr12:29810463-29810464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200819737	chr12:29810519-29810520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143897524	chr12:29810522-29810523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3036979	chr12:29810523-29810524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35670649	chr12:29810524-29810525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80192683	chr12:29810551-29810552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5797329	chr12:29810559-29810560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540917956	chr12:29810580-29810581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558202962	chr12:29810640-29810641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559609318	chr12:29810704-29810705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566716190	chr12:29810737-29810738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113628392	chr12:29810755-29810756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112126581	chr12:29810760-29810761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563201712	chr12:29810766-29810767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137918577	chr12:29810767-29810768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552329454	chr12:29810782-29810783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565472284	chr12:29810898-29810899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532792476	chr12:29810957-29810958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548067122	chr12:29810958-29810959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61922222	chr12:29810983-29810984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113250976	chr12:29810997-29810998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373114111	chr12:29811039-29811040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548549297	chr12:29811059-29811060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569981974	chr12:29811060-29811061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537147437	chr12:29811070-29811071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558667575	chr12:29811186-29811187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570888420	chr12:29811192-29811193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146030815	chr12:29811242-29811243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139950098	chr12:29811244-29811245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574078692	chr12:29811318-29811319	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs189945531	chr12:29811343-29811344	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs180836431	chr12:29811400-29811401	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs574690655	chr12:29811435-29811436	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs16934692	chr12:29811471-29811472	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185932115	chr12:29811534-29811535	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377149732	chr12:29811535-29811536	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs141787961	chr12:29811560-29811561	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs545903205	chr12:29811616-29811617	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs146407793	chr12:29811663-29811664	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188308833	chr12:29811676-29811677	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532704628	chr12:29811695-29811696	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs550431226	chr12:29811700-29811701	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs559733441	chr12:29811726-29811727	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530400642	chr12:29811729-29811730	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs181837510	chr12:29811755-29811756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Autism	22102821	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
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
3	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
4	chr12:29793400-29826200	Weak transcription	NHLF	lung
5	chr12:29793600-29815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:29794000-29820000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:29794200-29814800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:29794200-29815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:29794200-29815800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
11	chr12:29794200-29825600	Weak transcription	HMEC	breast
12	chr12:29794400-29811400	Weak transcription	Aorta	Aorta
13	chr12:29794400-29815600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:29794400-29819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:29794400-29831800	Weak transcription	Ovary	ovary
16	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
18	chr12:29798400-29811600	Weak transcription	NHDF-Ad	bronchial
19	chr12:29803600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:29803800-29813800	Weak transcription	Psoas Muscle	Psoas
21	chr12:29804200-29811600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:29804800-29813000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:29805400-29814600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:29805600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:29805800-29812200	Weak transcription	Left Ventricle	heart
26	chr12:29806400-29811400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:29806600-29821000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:29806800-29811400	Weak transcription	HSMM	muscle
29	chr12:29806800-29812200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:29807600-29814400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:29807600-29819600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:29808000-29811800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:29808800-29810400	Enhancers	Fetal Muscle Leg	muscle
35	chr12:29809200-29812200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:29809200-29814800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:29809200-29815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:29809200-29815600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:29809200-29816000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:29809600-29811000	Enhancers	Fetal Heart	heart
41	chr12:29809600-29811000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:29809600-29814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:29810200-29811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:29810200-29811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:29810200-29811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:29810200-29815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:29810200-29825400	Weak transcription	HSMMtube	muscle
48	chr12:29810400-29825200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:29811000-29813800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:29811000-29814200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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