Variant report

Variant	esv3404654
Chromosome Location	chr4:7689552-7693850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
2	chr4:7689481..7691143-chr4:7694709..7696911,2	K562	blood:
3	chr4:7688303..7691143-chr4:7693307..7696911,3	K562	blood:
4	chr4:7692723..7694463-chr4:7698220..7700534,2	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572563712	chr4:7689568-7689569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183490467	chr4:7689582-7689583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375042737	chr4:7689602-7689603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554983117	chr4:7689643-7689644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187759010	chr4:7689644-7689645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577448050	chr4:7689663-7689664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544617288	chr4:7689672-7689673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543818705	chr4:7689714-7689715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376999724	chr4:7689729-7689730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541628250	chr4:7689765-7689766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192371841	chr4:7689774-7689775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559559746	chr4:7689780-7689781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527381562	chr4:7689781-7689782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150090336	chr4:7689793-7689794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182253848	chr4:7689809-7689810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553073673	chr4:7689830-7689831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531173403	chr4:7689851-7689852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549754503	chr4:7689897-7689898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571411888	chr4:7689907-7689908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574445362	chr4:7689919-7689920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186605309	chr4:7689946-7689947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77524846	chr4:7689953-7689954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565912590	chr4:7689974-7689975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192966212	chr4:7689984-7689985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374408419	chr4:7690002-7690003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563350686	chr4:7690010-7690011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113165787	chr4:7690063-7690064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189693936	chr4:7690106-7690107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543402843	chr4:7690108-7690109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558918835	chr4:7690125-7690126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577456819	chr4:7690129-7690130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541371558	chr4:7690154-7690155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74534922	chr4:7690233-7690234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530265012	chr4:7690238-7690239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530691863	chr4:7690285-7690286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192911469	chr4:7690286-7690287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560603613	chr4:7690318-7690319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185173547	chr4:7690332-7690333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546143353	chr4:7690354-7690355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138620457	chr4:7690357-7690358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532286460	chr4:7690358-7690359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80072311	chr4:7690402-7690403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs886376	chr4:7690403-7690404	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189528555	chr4:7690429-7690430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5855977	chr4:7690437-7690438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397722329	chr4:7690441-7690442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202196196	chr4:7690442-7690443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181888967	chr4:7690454-7690455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185433478	chr4:7690470-7690471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532357497	chr4:7690499-7690500	Weak transcription Strong 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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7665200-7694800	Weak transcription	Liver	Liver
2	chr4:7679200-7695000	Weak transcription	Fetal Brain Male	brain
3	chr4:7679800-7715600	Weak transcription	Brain Germinal Matrix	brain
4	chr4:7683200-7691600	Weak transcription	Fetal Kidney	kidney
5	chr4:7683200-7695200	Weak transcription	Fetal Brain Female	brain
6	chr4:7685600-7707000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:7685800-7692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7686000-7690000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:7686000-7698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:7686200-7691000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:7686200-7691200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:7686200-7721000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:7686400-7690600	Weak transcription	Esophagus	oesophagus
14	chr4:7686400-7693600	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:7686600-7691200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:7687000-7698000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:7688200-7695600	Strong transcription	Fetal Stomach	stomach
18	chr4:7688600-7696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7690000-7690200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:7691000-7692400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr4:7691200-7691600	Strong transcription	Brain Angular Gyrus	brain
22	chr4:7691200-7691600	Strong transcription	Brain Substantia Nigra	brain
23	chr4:7691600-7692400	ZNF genes & repeats	Fetal Kidney	kidney
24	chr4:7691600-7705400	Weak transcription	Brain Substantia Nigra	brain
25	chr4:7691600-7716200	Weak transcription	Brain Angular Gyrus	brain
26	chr4:7692200-7692400	ZNF genes & repeats	Pancreas	Pancrea
27	chr4:7692400-7693800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:7692800-7693000	Enhancers	Gastric	stomach
29	chr4:7692800-7693200	Active TSS	Spleen	Spleen
30	chr4:7692800-7694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:7692800-7694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:7693000-7698200	Weak transcription	Gastric	stomach
33	chr4:7693200-7694400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:7693200-7699400	Weak transcription	Spleen	Spleen
35	chr4:7693600-7694000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr4:7693600-7694000	Enhancers	Brain Hippocampus Middle	brain
37	chr4:7693800-7694000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr4:7693800-7694200	Enhancers	Brain Inferior Temporal Lobe	brain

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