Variant report

Variant	esv3374701
Chromosome Location	chr4:94066329-94107927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:94103224..94106173-chr4:94109926..94112248,2	MCF-7	breast:
2	chr4:94078923..94080034-chr4:94120388..94121356,11	MCF-7	breast:
3	chr4:94078497..94079606-chr4:94120498..94121581,4	MCF-7	breast:

Extended variants
information (count: 1567 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574375811	chr4:94066387-94066388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541796149	chr4:94066395-94066396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60425899	chr4:94066401-94066402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376405449	chr4:94066407-94066408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554095987	chr4:94066423-94066424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116127063	chr4:94066450-94066451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549618380	chr4:94066451-94066452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11097359	chr4:94066470-94066471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572525190	chr4:94066487-94066488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373612744	chr4:94066496-94066497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183535122	chr4:94066553-94066554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55916237	chr4:94066556-94066557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11097360	chr4:94066582-94066583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565751952	chr4:94066586-94066587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186368183	chr4:94066604-94066605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200284300	chr4:94066622-94066623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554544409	chr4:94066626-94066627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555873499	chr4:94066631-94066632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34908915	chr4:94066636-94066637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368784574	chr4:94066637-94066638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10689612	chr4:94066638-94066639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371018292	chr4:94066671-94066672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55709410	chr4:94066679-94066680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574302216	chr4:94066689-94066690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150482598	chr4:94066730-94066731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11730324	chr4:94066764-94066765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370313028	chr4:94066783-94066784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376104910	chr4:94066787-94066788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577538685	chr4:94066792-94066793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370451397	chr4:94066794-94066795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13133714	chr4:94066796-94066797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534469383	chr4:94066824-94066825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34859683	chr4:94066829-94066830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71599271	chr4:94066838-94066839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546399081	chr4:94066839-94066840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560474816	chr4:94066852-94066853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6843540	chr4:94066853-94066854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573279170	chr4:94066893-94066894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148271665	chr4:94066926-94066927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56119934	chr4:94066936-94066937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114727670	chr4:94066951-94066952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530774552	chr4:94066953-94066954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80026722	chr4:94067016-94067017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10605314	chr4:94067017-94067018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199963482	chr4:94067018-94067019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72247271	chr4:94067028-94067029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113444641	chr4:94067038-94067039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549685728	chr4:94067046-94067047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537947370	chr4:94067056-94067057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532208311	chr4:94067060-94067061	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94060800-94068600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:94064000-94067200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:94064000-94067600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:94064400-94066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:94064400-94069600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:94064600-94066400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:94065200-94066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:94065200-94069400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:94065400-94066800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:94065800-94068600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:94066000-94066400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:94066200-94067800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:94066200-94070400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:94066400-94066800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:94066400-94067400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:94066400-94074400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:94066600-94067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:94066800-94067200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:94066800-94067400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:94067000-94069600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:94067200-94068600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:94067200-94070200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:94067400-94068600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:94067400-94069000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:94067400-94069600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:94067600-94067800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:94067800-94068200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:94067800-94069000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:94067800-94069600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:94068200-94068600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:94068400-94069400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:94068600-94069000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:94068600-94069200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:94068600-94069400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:94068600-94069400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:94069000-94069400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr4:94069200-94073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:94069400-94073600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:94069400-94078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:94069600-94070200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:94069600-94071400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:94069600-94079000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:94069600-94079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:94070200-94070600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr4:94070200-94070800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:94070400-94070600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr4:94070600-94071200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:94070600-94074600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:94070800-94088800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:94071200-94074400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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