Variant report

Variant	esv3437934
Chromosome Location	chr4:7400351-7405049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 292 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12500803	chr4:7400369-7400370	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569342812	chr4:7400391-7400392	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs377453046	chr4:7400413-7400414	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs4618312	chr4:7400416-7400417	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375653792	chr4:7400453-7400454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189400145	chr4:7400459-7400460	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs12500834	chr4:7400474-7400475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149955877	chr4:7400479-7400480	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs12512241	chr4:7400484-7400485	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567934310	chr4:7400503-7400504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs535460732	chr4:7400506-7400507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs375896936	chr4:7400620-7400621	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs556645240	chr4:7400640-7400641	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs182133736	chr4:7400668-7400669	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12512986	chr4:7400681-7400682	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557964997	chr4:7400690-7400691	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs13125483	chr4:7400701-7400702	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540009168	chr4:7400711-7400712	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561662130	chr4:7400723-7400724	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs375995315	chr4:7400731-7400732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs529112288	chr4:7400738-7400739	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs544597141	chr4:7400765-7400766	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs5855960	chr4:7400786-7400787	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs186736619	chr4:7400787-7400788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs7676923	chr4:7400793-7400794	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs397744168	chr4:7400795-7400796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs12501740	chr4:7400821-7400822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142804692	chr4:7400830-7400831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146985060	chr4:7400836-7400837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183341276	chr4:7400902-7400903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13150726	chr4:7400907-7400908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538506227	chr4:7400919-7400920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538111282	chr4:7400961-7400962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550588983	chr4:7401028-7401029	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186152871	chr4:7401033-7401034	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189737460	chr4:7401086-7401087	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557588487	chr4:7401087-7401088	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367791966	chr4:7401102-7401103	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10001291	chr4:7401139-7401140	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533747561	chr4:7401165-7401166	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555096006	chr4:7401168-7401169	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369585926	chr4:7401191-7401192	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568435206	chr4:7401204-7401205	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4689726	chr4:7401208-7401209	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376968093	chr4:7401227-7401228	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28612998	chr4:7401228-7401229	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73084227	chr4:7401247-7401248	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182404484	chr4:7401260-7401261	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555812536	chr4:7401282-7401283	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10034552	chr4:7401310-7401311	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7391800-7402000	Enhancers	Brain Germinal Matrix	brain
2	chr4:7393600-7400800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr4:7396800-7401400	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:7397400-7400800	Enhancers	HSMMtube	muscle
5	chr4:7397400-7401200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:7397400-7401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:7397600-7401600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:7398000-7400400	Enhancers	NH-A	brain
9	chr4:7398200-7400800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:7398400-7401200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7398600-7400800	Bivalent Enhancer	Fetal Lung	lung
12	chr4:7398800-7400800	Enhancers	Colon Smooth Muscle	Colon
13	chr4:7398800-7401400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:7399000-7401200	Enhancers	Fetal Brain Male	brain
15	chr4:7399000-7401400	Enhancers	Brain Angular Gyrus	brain
16	chr4:7399400-7400400	Enhancers	Fetal Heart	heart
17	chr4:7399400-7401200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:7399400-7401200	Enhancers	Brain Substantia Nigra	brain
19	chr4:7399400-7401400	Enhancers	Brain Anterior Caudate	brain
20	chr4:7399400-7401400	Enhancers	Brain Hippocampus Middle	brain
21	chr4:7399400-7401600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:7399600-7401800	Enhancers	Fetal Brain Female	brain
23	chr4:7399800-7401000	Enhancers	Fetal Stomach	stomach
24	chr4:7399800-7404200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:7400000-7400600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:7400000-7400800	Enhancers	Stomach Smooth Muscle	stomach
27	chr4:7400000-7400800	Enhancers	HSMM	muscle
28	chr4:7400000-7401000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:7400000-7404800	Weak transcription	Left Ventricle	heart
30	chr4:7400200-7401000	Enhancers	HMEC	breast
31	chr4:7400200-7404800	Weak transcription	Pancreas	Pancrea
32	chr4:7400600-7400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:7400800-7404200	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:7400800-7404200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:7401000-7401200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:7401000-7401200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:7401000-7401600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:7401200-7401400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr4:7401200-7402000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:7403200-7405400	Enhancers	Stomach Mucosa	stomach
41	chr4:7404000-7405400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:7404000-7405400	Enhancers	HMEC	breast
43	chr4:7404200-7405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:7404200-7405400	Enhancers	Colon Smooth Muscle	Colon
45	chr4:7404200-7405400	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:7404200-7405400	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:7404400-7405200	Enhancers	Fetal Stomach	stomach
48	chr4:7404400-7405200	Enhancers	Right Ventricle	heart
49	chr4:7404400-7405200	Enhancers	NHEK	skin
50	chr4:7404600-7405400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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