Variant report

Variant	esv3388093
Chromosome Location	chr4:7723852-7728550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7724746..7727084-chr4:7966375..7967893,2	K562	blood:
2	chr4:7717845..7720426-chr4:7722093..7724959,2	K562	blood:
3	chr4:7723652..7724312-chr4:7988958..7989693,2	MCF-7	breast:
4	chr4:7723319..7725071-chr4:7788895..7790676,2	K562	blood:

Extended variants
information (count: 352 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80212731	chr4:7723854-7723855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180704826	chr4:7723874-7723875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186369567	chr4:7723884-7723885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73078591	chr4:7723896-7723897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150778559	chr4:7723906-7723907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183518140	chr4:7723907-7723908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369252180	chr4:7723908-7723909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73204724	chr4:7723909-7723910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552687734	chr4:7723931-7723932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561804953	chr4:7723965-7723966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190991579	chr4:7723978-7723979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528876353	chr4:7723998-7723999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183214726	chr4:7724015-7724016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs11727568	chr4:7724021-7724022	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs150841944	chr4:7724062-7724063	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs564277202	chr4:7724100-7724101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs114588227	chr4:7724127-7724128	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540714582	chr4:7724153-7724154	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs554102272	chr4:7724179-7724180	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs529302252	chr4:7724207-7724208	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550993294	chr4:7724208-7724209	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532867180	chr4:7724250-7724251	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533649686	chr4:7724251-7724252	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551803908	chr4:7724273-7724274	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186791530	chr4:7724290-7724291	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534153433	chr4:7724302-7724303	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539362224	chr4:7724314-7724315	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77323664	chr4:7724315-7724316	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551507648	chr4:7724330-7724331	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535205056	chr4:7724335-7724336	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11722616	chr4:7724373-7724374	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566540208	chr4:7724375-7724376	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575152331	chr4:7724380-7724381	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149550066	chr4:7724396-7724397	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534028690	chr4:7724413-7724414	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144259406	chr4:7724457-7724458	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573051690	chr4:7724458-7724459	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191309643	chr4:7724461-7724462	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140177152	chr4:7724464-7724465	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182612201	chr4:7724465-7724466	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143936544	chr4:7724483-7724484	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146358152	chr4:7724511-7724512	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188062364	chr4:7724523-7724524	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533206887	chr4:7724543-7724544	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552030827	chr4:7724562-7724563	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377589365	chr4:7724591-7724592	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553035081	chr4:7724594-7724595	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560497427	chr4:7724610-7724611	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192844417	chr4:7724613-7724614	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185301740	chr4:7724623-7724624	Weak transcription Bivalent Enhancer Enhancers	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7717000-7726200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7717800-7739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:7718600-7729000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:7721200-7726200	Weak transcription	Gastric	stomach
5	chr4:7721400-7726400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7721600-7726800	Weak transcription	Ovary	ovary
7	chr4:7721600-7727400	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:7721800-7724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:7721800-7726000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:7721800-7727800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:7721800-7728600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:7721800-7729200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:7721800-7730200	Weak transcription	Brain Germinal Matrix	brain
14	chr4:7722600-7739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:7724000-7724200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7724000-7724200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr4:7724000-7724200	Bivalent Enhancer	Placenta	Placenta
18	chr4:7724000-7725000	Enhancers	HUVEC	blood vessel
19	chr4:7724000-7725200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:7724200-7725000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr4:7724200-7725200	Enhancers	Fetal Muscle Leg	muscle
22	chr4:7724600-7724800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:7724600-7724800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:7724600-7724800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:7724800-7725000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr4:7724800-7725200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:7724800-7744600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:7725200-7725400	Weak transcription	Fetal Stomach	stomach
29	chr4:7725200-7727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:7725200-7734000	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:7725800-7726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:7725800-7726800	ZNF genes & repeats	Fetal Kidney	kidney
33	chr4:7726000-7726400	Enhancers	Right Ventricle	heart
34	chr4:7726000-7726600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr4:7726000-7726800	Enhancers	Pancreas	Pancrea
36	chr4:7726200-7726600	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr4:7726200-7726800	Active TSS	Fetal Lung	lung
38	chr4:7726200-7726800	ZNF genes & repeats	Gastric	stomach
39	chr4:7726400-7726800	ZNF genes & repeats	Fetal Stomach	stomach
40	chr4:7726400-7727800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr4:7726600-7729600	Weak transcription	Brain Substantia Nigra	brain
42	chr4:7726600-7757200	Weak transcription	Fetal Brain Female	brain
43	chr4:7726800-7730000	Strong transcription	Ovary	ovary
44	chr4:7726800-7730200	Weak transcription	Gastric	stomach
45	chr4:7726800-7732800	Strong transcription	Fetal Stomach	stomach
46	chr4:7726800-7733000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:7727000-7727200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7727000-7739400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:7727200-7727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:7727400-7728000	Enhancers	Brain Hippocampus Middle	brain

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