Variant report

Variant	esv3331917
Chromosome Location	chr4:94063161-94093647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:94078497..94079606-chr4:94120498..94121581,4	MCF-7	breast:
2	chr4:94078923..94080034-chr4:94120388..94121356,11	MCF-7	breast:

Extended variants
information (count: 1147 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115740979	chr4:94063217-94063218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528909749	chr4:94063338-94063339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78140654	chr4:94063359-94063360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539517586	chr4:94063371-94063372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531882557	chr4:94063389-94063390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192618744	chr4:94063404-94063405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184411160	chr4:94063446-94063447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544218143	chr4:94063450-94063451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10022163	chr4:94063508-94063509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187570416	chr4:94063598-94063599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192512229	chr4:94063714-94063715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149958015	chr4:94063821-94063822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576457144	chr4:94063842-94063843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538147100	chr4:94063852-94063853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558047925	chr4:94063883-94063884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577933100	chr4:94063899-94063900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540029035	chr4:94063900-94063901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115360903	chr4:94063929-94063930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573642409	chr4:94063937-94063938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542658207	chr4:94064017-94064018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578006020	chr4:94064018-94064019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11097358	chr4:94064059-94064060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551675428	chr4:94064088-94064089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72887675	chr4:94064116-94064117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527909109	chr4:94064126-94064127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547661526	chr4:94064149-94064150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567789198	chr4:94064187-94064188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144191701	chr4:94064224-94064225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184296862	chr4:94064266-94064267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570080161	chr4:94064267-94064268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189066356	chr4:94064268-94064269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558110954	chr4:94064270-94064271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577985847	chr4:94064304-94064305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534030846	chr4:94064322-94064323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560465554	chr4:94064324-94064325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114359310	chr4:94064347-94064348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139655445	chr4:94064467-94064468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72887677	chr4:94064484-94064485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192637013	chr4:94064588-94064589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562211572	chr4:94064617-94064618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575656203	chr4:94064669-94064670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544583964	chr4:94064715-94064716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558330533	chr4:94064748-94064749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148609179	chr4:94064752-94064753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527969695	chr4:94064838-94064839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562670172	chr4:94064850-94064851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184776664	chr4:94064852-94064853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561332026	chr4:94064871-94064872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77706594	chr4:94064897-94064898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550317992	chr4:94064933-94064934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94055400-94064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:94057600-94064000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:94060200-94065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:94060200-94065400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:94060600-94064000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:94060600-94064400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:94060600-94065200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:94060800-94064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:94060800-94068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:94063000-94063800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:94063800-94064000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:94064000-94064200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:94064000-94064200	Enhancers	Fetal Brain Male	brain
14	chr4:94064000-94065200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:94064000-94067200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:94064000-94067600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:94064200-94064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:94064400-94065400	Weak transcription	Fetal Brain Male	brain
19	chr4:94064400-94066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:94064400-94069600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:94064600-94066400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:94065000-94065800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:94065200-94065800	Enhancers	Brain Germinal Matrix	brain
24	chr4:94065200-94065800	Enhancers	Fetal Brain Female	brain
25	chr4:94065200-94066200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:94065200-94066200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:94065200-94066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:94065200-94069400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:94065400-94065800	Enhancers	Fetal Brain Male	brain
30	chr4:94065400-94066800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:94065800-94068600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:94066000-94066400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:94066200-94067800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:94066200-94070400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:94066400-94066800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:94066400-94067400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:94066400-94074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:94066600-94067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:94066800-94067200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:94066800-94067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:94067000-94069600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:94067200-94068600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:94067200-94070200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:94067400-94068600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:94067400-94069000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:94067400-94069600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:94067600-94067800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:94067800-94068200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:94067800-94069000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:94067800-94069600	Enhancers	HUES6 Cell Line	embryonic stem cell

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