Variant report

Variant	esv3452338
Chromosome Location	chr1:74829562-74830700
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	EP300	chr1:74828474-74829662	SK-N-SH	brain:	n/a	chr1:74829454-74829468 chr1:74828543-74828557 chr1:74828544-74828553

Variant related genes	Relation type
TNNI3K	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368289032	chr1:74829606-74829607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200614548	chr1:74829607-74829608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111428653	chr1:74829614-74829615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372879511	chr1:74829615-74829616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543801856	chr1:74829622-74829623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562305171	chr1:74829632-74829633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368456076	chr1:74829655-74829656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144877929	chr1:74829656-74829657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386367347	chr1:74829675-74829676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60225699	chr1:74829695-74829696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147862696	chr1:74829696-74829697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72966905	chr1:74829827-74829828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563658361	chr1:74829837-74829838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114665499	chr1:74829847-74829848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527411431	chr1:74829852-74829853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374957902	chr1:74829853-74829854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188589944	chr1:74829857-74829858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193263936	chr1:74829862-74829863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530697659	chr1:74829863-74829864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115677358	chr1:74829871-74829872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549813459	chr1:74829926-74829927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147959442	chr1:74829931-74829932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140532377	chr1:74829945-74829946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553818880	chr1:74829960-74829961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150461788	chr1:74829966-74829967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539577343	chr1:74830003-74830004	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531212853	chr1:74830074-74830075	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs184221981	chr1:74830188-74830189	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540292725	chr1:74830275-74830276	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80276494	chr1:74830301-74830302	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138430355	chr1:74830333-74830334	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555801080	chr1:74830345-74830346	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574258506	chr1:74830370-74830371	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571024034	chr1:74830371-74830372	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148858897	chr1:74830390-74830391	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528632905	chr1:74830393-74830394	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189018230	chr1:74830405-74830406	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527369535	chr1:74830437-74830438	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375380728	chr1:74830484-74830485	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200129379	chr1:74830489-74830490	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191584635	chr1:74830492-74830493	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369030764	chr1:74830508-74830509	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370159362	chr1:74830539-74830540	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550017495	chr1:74830559-74830560	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577298555	chr1:74830595-74830596	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568037498	chr1:74830612-74830613	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529181118	chr1:74830625-74830626	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184112248	chr1:74830626-74830627	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189416450	chr1:74830629-74830630	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74809200-74830200	Weak transcription	Left Ventricle	heart
2	chr1:74821200-74844400	Weak transcription	Right Ventricle	heart
3	chr1:74823600-74834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:74823800-74832600	Weak transcription	Fetal Brain Male	brain
5	chr1:74826000-74830000	Enhancers	Fetal Heart	heart
6	chr1:74827600-74829600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:74828600-74829600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:74829400-74830200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:74829400-74847800	Weak transcription	Aorta	Aorta
10	chr1:74829600-74832000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:74829600-74832200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:74830000-74830200	Flanking Active TSS	Fetal Heart	heart
13	chr1:74830200-74830600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:74830200-74830600	ZNF genes & repeats	Left Ventricle	heart
15	chr1:74830200-74831600	Genic enhancers	Fetal Heart	heart
16	chr1:74830600-74830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:74830600-74834200	Weak transcription	Left Ventricle	heart
18	chr1:74830600-74840800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links