Variant report

Variant	esv3384505
Chromosome Location	chr16:76583030-76583605
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	STAT3	chr16:76583081-76583106	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000261833	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149485288	chr16:76583060-76583061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7199695	chr16:76583091-76583092	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547446472	chr16:76583105-76583106	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563994877	chr16:76583114-76583115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532970638	chr16:76583130-76583131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377650766	chr16:76583161-76583162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7193099	chr16:76583233-76583234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570364353	chr16:76583250-76583251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536155861	chr16:76583264-76583265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9936977	chr16:76583283-76583284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566249895	chr16:76583302-76583303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568127195	chr16:76583328-76583329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530663383	chr16:76583338-76583339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534837394	chr16:76583352-76583353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183418031	chr16:76583359-76583360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7199176	chr16:76583387-76583388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs202185745	chr16:76583416-76583417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192520914	chr16:76583443-76583444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553480337	chr16:76583454-76583455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11862370	chr16:76583482-76583483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541705834	chr16:76583522-76583523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144649699	chr16:76583532-76583533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140742691	chr16:76583566-76583567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397946237	chr16:76583573-76583574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545417561	chr16:76583580-76583581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184391943	chr16:76583601-76583602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76554600-76587200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:76554600-76587200	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:76582000-76583400	Enhancers	Fetal Intestine Small	intestine
5	chr16:76582000-76589400	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links