Variant report

Variant	esv2024202
Chromosome Location	chr4:7524254-7524853
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	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
2	chr4:7524845..7525381-chr4:7721481..7722229,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180961687	chr4:7524268-7524269	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542360654	chr4:7524290-7524291	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28577242	chr4:7524298-7524299	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10017620	chr4:7524310-7524311	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9995830	chr4:7524315-7524316	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565353292	chr4:7524329-7524330	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532723589	chr4:7524388-7524389	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528794957	chr4:7524423-7524424	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201191892	chr4:7524442-7524443	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11731369	chr4:7524448-7524449	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200505002	chr4:7524472-7524473	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568330504	chr4:7524484-7524485	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535903304	chr4:7524485-7524486	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547982214	chr4:7524488-7524489	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539565706	chr4:7524494-7524495	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184544310	chr4:7524531-7524532	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11728487	chr4:7524542-7524543	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116030491	chr4:7524560-7524561	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111216362	chr4:7524565-7524566	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36231941	chr4:7524607-7524608	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139651153	chr4:7524621-7524622	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62644743	chr4:7524622-7524623	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142353027	chr4:7524623-7524624	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116328480	chr4:7524627-7524628	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62635993	chr4:7524631-7524632	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62635994	chr4:7524634-7524635	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62635995	chr4:7524636-7524637	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62637158	chr4:7524641-7524642	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62637159	chr4:7524644-7524645	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62637860	chr4:7524648-7524649	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62637861	chr4:7524654-7524655	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62637862	chr4:7524658-7524659	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62637863	chr4:7524659-7524660	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62280193	chr4:7524667-7524668	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186200396	chr4:7524692-7524693	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576025461	chr4:7524697-7524698	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149050416	chr4:7524807-7524808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs6857623	chr4:7524810-7524811	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371188505	chr4:7524811-7524812	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs140901081	chr4:7524812-7524813	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs147429318	chr4:7524816-7524817	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs373924314	chr4:7524817-7524818	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs376810964	chr4:7524831-7524832	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7520000-7524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr4:7520200-7525400	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr4:7520400-7524600	Enhancers	Fetal Brain Male	brain
4	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:7523600-7524800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7523800-7525800	Enhancers	Brain Germinal Matrix	brain
7	chr4:7524000-7525200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:7524200-7524800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:7524200-7525000	Bivalent Enhancer	Fetal Brain Female	brain
10	chr4:7524400-7524800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:7524600-7525200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr4:7524800-7525000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:7524800-7525000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr4:7524800-7527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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