Variant report

Variant	esv1005959
Chromosome Location	chr4:93800220-93803992
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	CTCF	chr4:93802078-93802118	Kidney_OC	kidney:	n/a	n/a
2	ZNF384	chr4:93803224-93803304	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248750	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574713373	chr4:93800225-93800226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531926802	chr4:93800234-93800235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376085937	chr4:93800258-93800259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548364433	chr4:93800325-93800326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181756325	chr4:93800361-93800362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185524801	chr4:93800368-93800369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560333937	chr4:93800382-93800383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142289716	chr4:93800398-93800399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190300594	chr4:93800399-93800400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570083801	chr4:93800421-93800422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146296768	chr4:93800486-93800487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182698645	chr4:93800497-93800498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78808704	chr4:93800504-93800505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542104020	chr4:93800540-93800541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527678005	chr4:93800566-93800567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185864118	chr4:93800581-93800582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6827937	chr4:93800605-93800606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112107746	chr4:93800611-93800612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531964805	chr4:93800642-93800643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533403129	chr4:93800658-93800659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550363043	chr4:93800683-93800684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138242942	chr4:93800706-93800707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372690684	chr4:93800727-93800728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373854282	chr4:93800737-93800738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568983478	chr4:93800768-93800769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113097356	chr4:93800810-93800811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559437477	chr4:93800896-93800897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528380063	chr4:93800902-93800903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548090424	chr4:93800930-93800931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149581102	chr4:93800966-93800967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530538258	chr4:93800973-93800974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183815622	chr4:93800983-93800984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570196362	chr4:93800991-93800992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539074271	chr4:93800992-93800993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116023260	chr4:93800994-93800995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567091869	chr4:93801023-93801024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533010910	chr4:93801037-93801038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551452299	chr4:93801049-93801050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536101137	chr4:93801061-93801062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377516108	chr4:93801066-93801067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545356821	chr4:93801127-93801128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144294377	chr4:93801142-93801143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575874244	chr4:93801169-93801170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79686261	chr4:93801257-93801258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558315280	chr4:93801282-93801283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578143278	chr4:93801295-93801296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540311005	chr4:93801342-93801343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560454982	chr4:93801383-93801384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115597624	chr4:93801477-93801478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542076381	chr4:93801507-93801508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93758200-93802200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93786000-93800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:93798800-93809600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:93800400-93800800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:93800600-93800800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:93802000-93802400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:93802200-93802400	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links