Variant report

Variant	esv3414505
Chromosome Location	chr4:8092352-8094825
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	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368000176	chr4:8092354-8092355	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138545848	chr4:8092357-8092358	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568738744	chr4:8092377-8092378	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535818362	chr4:8092400-8092401	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190365747	chr4:8092405-8092406	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143966558	chr4:8092410-8092411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546292531	chr4:8092438-8092439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182631299	chr4:8092441-8092442	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577073300	chr4:8092446-8092447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200822122	chr4:8092447-8092448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200492022	chr4:8092448-8092449	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574669810	chr4:8092450-8092451	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576317693	chr4:8092457-8092458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187664903	chr4:8092485-8092486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13152243	chr4:8092499-8092500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530443987	chr4:8092500-8092501	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13121226	chr4:8092507-8092508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146799802	chr4:8092509-8092510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35158436	chr4:8092524-8092525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528614165	chr4:8092549-8092550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547166736	chr4:8092557-8092558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138436622	chr4:8092560-8092561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190641957	chr4:8092573-8092574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551012506	chr4:8092607-8092608	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547621873	chr4:8092642-8092643	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182884124	chr4:8092670-8092671	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7681534	chr4:8092687-8092688	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111504378	chr4:8092688-8092689	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372576729	chr4:8092689-8092690	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573373932	chr4:8092754-8092755	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12501921	chr4:8092771-8092772	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553120428	chr4:8092774-8092775	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12498900	chr4:8092781-8092782	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542076463	chr4:8092793-8092794	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563255204	chr4:8092794-8092795	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10938685	chr4:8092795-8092796	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545397235	chr4:8092796-8092797	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76259872	chr4:8092814-8092815	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189111967	chr4:8092821-8092822	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117711829	chr4:8092835-8092836	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193045720	chr4:8092889-8092890	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562286894	chr4:8092894-8092895	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538025364	chr4:8092905-8092906	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550153078	chr4:8092977-8092978	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571308527	chr4:8092985-8092986	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151163866	chr4:8092997-8092998	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11728138	chr4:8093001-8093002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140398497	chr4:8093008-8093009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569575440	chr4:8093017-8093018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62289376	chr4:8093019-8093020	Weak transcription	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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8078600-8095800	Weak transcription	Aorta	Aorta
3	chr4:8081600-8114400	Weak transcription	Gastric	stomach
4	chr4:8082400-8102600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:8082400-8102800	Weak transcription	Right Atrium	heart
6	chr4:8083400-8097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:8084000-8104400	Weak transcription	Pancreas	Pancrea
8	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:8090200-8092600	Enhancers	HMEC	breast
10	chr4:8090400-8092600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:8090400-8100600	Weak transcription	Left Ventricle	heart
12	chr4:8090800-8092600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:8091000-8092400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:8091000-8093000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:8091600-8092600	Enhancers	NHEK	skin
16	chr4:8091600-8092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:8091600-8092800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr4:8091600-8092800	Enhancers	HUVEC	blood vessel
19	chr4:8091600-8093000	Enhancers	Adipose Nuclei	Adipose
20	chr4:8091600-8093000	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:8091800-8092400	Enhancers	NH-A	brain
22	chr4:8091800-8092600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:8091800-8093000	Enhancers	Spleen	Spleen
24	chr4:8092000-8092400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:8092000-8092800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:8092000-8092800	Enhancers	Hela-S3	cervix
27	chr4:8092000-8096000	Weak transcription	Lung	lung
28	chr4:8092000-8100400	Weak transcription	Right Ventricle	heart
29	chr4:8092200-8092800	Weak transcription	Esophagus	oesophagus
30	chr4:8092200-8093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:8092200-8093000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:8092200-8094200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:8092400-8092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8092400-8092800	Enhancers	Stomach Mucosa	stomach
35	chr4:8092400-8093000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:8092600-8092800	Enhancers	Small Intestine	intestine
37	chr4:8092600-8093000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:8092800-8093000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8092800-8093000	Enhancers	Esophagus	oesophagus
40	chr4:8092800-8093000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr4:8092800-8100800	Weak transcription	Hela-S3	cervix
42	chr4:8093000-8096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:8093000-8097400	Weak transcription	Spleen	Spleen
44	chr4:8093000-8098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8094200-8097400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:8094200-8097400	Weak transcription	Stomach Smooth Muscle	stomach

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