Variant report

Variant	esv3355080
Chromosome Location	chr4:7657152-7661650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7656713..7658782-chr4:7660668..7662448,2	K562	blood:
2	chr4:7658992..7661318-chr4:7663721..7665550,2	MCF-7	breast:
3	chr4:7656713..7658782-chr4:7660668..7662448,2	K562	blood:

Extended variants
information (count: 283 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:283 , 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	rs553143412	chr4:7657161-7657162	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28643428	chr4:7657172-7657173	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561227924	chr4:7657195-7657196	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138514459	chr4:7657231-7657232	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553709788	chr4:7657238-7657239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550470682	chr4:7657239-7657240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs386671273	chr4:7657306-7657307	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs186415383	chr4:7657307-7657308	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551449135	chr4:7657359-7657360	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114120955	chr4:7657360-7657361	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190875510	chr4:7657368-7657369	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77953448	chr4:7657380-7657381	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573604731	chr4:7657405-7657406	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs144096524	chr4:7657407-7657408	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs150243782	chr4:7657470-7657471	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs138911547	chr4:7657471-7657472	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs545231983	chr4:7657480-7657481	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs560207074	chr4:7657481-7657482	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs367852059	chr4:7657526-7657527	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs572243083	chr4:7657528-7657529	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs542592407	chr4:7657529-7657530	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs560920859	chr4:7657533-7657534	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs180889114	chr4:7657550-7657551	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs112388546	chr4:7657551-7657552	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs565575860	chr4:7657562-7657563	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs545459579	chr4:7657564-7657565	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs547313177	chr4:7657592-7657593	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs532587334	chr4:7657604-7657605	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs548044295	chr4:7657609-7657610	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs10018330	chr4:7657647-7657648	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs375290105	chr4:7657663-7657664	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs533843526	chr4:7657665-7657666	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs10006835	chr4:7657706-7657707	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185197688	chr4:7657710-7657711	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs537848103	chr4:7657736-7657737	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs556178528	chr4:7657737-7657738	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs552851060	chr4:7657744-7657745	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs376699996	chr4:7657772-7657773	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs553581152	chr4:7657778-7657779	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs372065248	chr4:7657794-7657795	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs542678585	chr4:7657808-7657809	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191481964	chr4:7657854-7657855	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576311939	chr4:7657867-7657868	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144511314	chr4:7657868-7657869	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139225415	chr4:7657930-7657931	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs532867689	chr4:7657932-7657933	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62290677	chr4:7657934-7657935	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182919526	chr4:7657946-7657947	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556606976	chr4:7657978-7657979	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs117469559	chr4:7658001-7658002	Weak transcription Enhancers 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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7648400-7658000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr4:7649600-7657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:7649600-7659000	Enhancers	Ovary	ovary
4	chr4:7650000-7658600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:7650600-7658400	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:7651200-7657400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:7651200-7658600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:7651400-7658600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:7651400-7660400	Weak transcription	Colonic Mucosa	Colon
10	chr4:7651800-7658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:7652400-7666000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:7653000-7657600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr4:7654400-7659000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:7655000-7659400	Weak transcription	HepG2	liver
15	chr4:7655400-7658200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr4:7655400-7658800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:7655600-7657200	Weak transcription	HMEC	breast
18	chr4:7655600-7657400	Weak transcription	Esophagus	oesophagus
19	chr4:7655600-7665200	Weak transcription	Spleen	Spleen
20	chr4:7655800-7657200	Weak transcription	Brain Germinal Matrix	brain
21	chr4:7656200-7657200	Weak transcription	Pancreas	Pancrea
22	chr4:7656400-7657600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr4:7656400-7657600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr4:7656600-7657200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:7656600-7657800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:7656600-7658200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:7656600-7658400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:7656600-7658600	Enhancers	Brain Substantia Nigra	brain
29	chr4:7656600-7658800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:7656800-7657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:7656800-7657600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:7656800-7657600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:7656800-7657800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7656800-7657800	Bivalent Enhancer	Fetal Brain Male	brain
35	chr4:7656800-7658000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:7656800-7658200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:7656800-7658400	Enhancers	Brain Angular Gyrus	brain
38	chr4:7656800-7658400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr4:7656800-7658400	Enhancers	NH-A	brain
40	chr4:7656800-7658800	Enhancers	Brain Anterior Caudate	brain
41	chr4:7656800-7658800	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:7656800-7660400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:7657000-7657400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:7657000-7657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:7657000-7657400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:7657000-7657400	Bivalent Enhancer	Fetal Brain Female	brain
47	chr4:7657000-7657600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:7657000-7657600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:7657000-7657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:7657000-7658400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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