Variant report

Variant	esv2622490
Chromosome Location	chr3:21456922-21458634
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	chr3:21457114-21457117	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr3:21456959-21457067	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000272511	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546444086	chr3:21456954-21456955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569885313	chr3:21456961-21456962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187967922	chr3:21456974-21456975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558584058	chr3:21457002-21457003	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376354550	chr3:21457004-21457005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577840860	chr3:21457068-21457069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570613075	chr3:21457069-21457070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369442785	chr3:21457076-21457077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180829687	chr3:21457097-21457098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116215235	chr3:21457123-21457124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542537844	chr3:21457171-21457172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370394748	chr3:21457180-21457181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576271935	chr3:21457187-21457188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543651820	chr3:21457195-21457196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559926665	chr3:21457219-21457220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528767823	chr3:21457230-21457231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372953349	chr3:21457241-21457242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542551654	chr3:21457245-21457246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4857995	chr3:21457251-21457252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4857996	chr3:21457267-21457268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561258815	chr3:21457272-21457273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185637177	chr3:21457277-21457278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563415236	chr3:21457322-21457323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530253789	chr3:21457328-21457329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4857997	chr3:21457341-21457342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189791509	chr3:21457369-21457370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529712695	chr3:21457390-21457391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548564949	chr3:21457412-21457413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201188363	chr3:21457509-21457510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370007644	chr3:21457510-21457511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181848783	chr3:21457511-21457512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62235508	chr3:21457562-21457563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186865520	chr3:21457759-21457760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373500230	chr3:21457820-21457821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377201709	chr3:21457903-21457904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138556882	chr3:21457926-21457927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1611929	chr3:21457961-21457962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570754643	chr3:21457977-21457978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367779365	chr3:21457996-21457997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17008650	chr3:21458081-21458082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375175258	chr3:21458084-21458085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192024686	chr3:21458108-21458109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568336178	chr3:21458115-21458116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535858737	chr3:21458125-21458126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111719907	chr3:21458130-21458131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554864093	chr3:21458195-21458196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376568704	chr3:21458210-21458211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576407606	chr3:21458223-21458224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12488141	chr3:21458240-21458241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141697200	chr3:21458265-21458266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21452600-21462600	Weak transcription	Aorta	Aorta
2	chr3:21453200-21475600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:21455000-21469000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:21455400-21459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links