Variant report

Variant	esv3371702
Chromosome Location	chr4:7633552-7637750
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	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs374567376	chr4:7633555-7633556	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs77597412	chr4:7633566-7633567	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534689031	chr4:7633603-7633604	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184611515	chr4:7633612-7633613	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568654187	chr4:7633650-7633651	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536146848	chr4:7633654-7633655	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557546332	chr4:7633659-7633660	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73794352	chr4:7633704-7633705	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543514057	chr4:7633715-7633716	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139208616	chr4:7633743-7633744	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188924417	chr4:7633744-7633745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376557362	chr4:7633758-7633759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12509359	chr4:7633831-7633832	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs540661181	chr4:7633838-7633839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs1468250	chr4:7633845-7633846	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529900796	chr4:7633866-7633867	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs34741744	chr4:7633904-7633905	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs62289026	chr4:7633906-7633907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145123495	chr4:7633986-7633987	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35727904	chr4:7633987-7633988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs375210482	chr4:7633988-7633989	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs145003317	chr4:7634002-7634003	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs551984071	chr4:7634076-7634077	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs570598781	chr4:7634096-7634097	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs528631489	chr4:7634098-7634099	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs74973087	chr4:7634145-7634146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371053865	chr4:7634186-7634187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs555212522	chr4:7634190-7634191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs372173668	chr4:7634192-7634193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs535737823	chr4:7634194-7634195	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs557708137	chr4:7634198-7634199	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs569599689	chr4:7634199-7634200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs573575434	chr4:7634200-7634201	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs536764108	chr4:7634249-7634250	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371967110	chr4:7634260-7634261	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540022194	chr4:7634300-7634301	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547895529	chr4:7634320-7634321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193284798	chr4:7634326-7634327	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576863358	chr4:7634365-7634366	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148954837	chr4:7634366-7634367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185554619	chr4:7634403-7634404	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574392922	chr4:7634416-7634417	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs147073348	chr4:7634422-7634423	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs563222936	chr4:7634423-7634424	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575189916	chr4:7634460-7634461	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35258083	chr4:7634465-7634466	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs74375003	chr4:7634509-7634510	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528533953	chr4:7634514-7634515	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147664245	chr4:7634524-7634525	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79589792	chr4:7634528-7634529	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	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:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7631200-7633800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
3	chr4:7631600-7634600	Enhancers	Brain Hippocampus Middle	brain
4	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
5	chr4:7631800-7633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:7631800-7633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:7631800-7633800	Enhancers	HMEC	breast
8	chr4:7631800-7634000	Enhancers	Brain Angular Gyrus	brain
9	chr4:7631800-7634600	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:7631800-7634600	Enhancers	Brain Substantia Nigra	brain
11	chr4:7631800-7634600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:7631800-7634600	Enhancers	Left Ventricle	heart
13	chr4:7631800-7634800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:7632000-7633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:7632000-7634000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr4:7632200-7634600	Enhancers	Right Atrium	heart
20	chr4:7632400-7633600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:7632400-7633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:7632400-7633800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr4:7632400-7634200	Enhancers	Fetal Brain Female	brain
24	chr4:7632400-7634400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:7632800-7633600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:7632800-7633800	Enhancers	HSMMtube	muscle
27	chr4:7632800-7633800	Enhancers	NHDF-Ad	bronchial
28	chr4:7632800-7634000	Enhancers	NHLF	lung
29	chr4:7633000-7633600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr4:7633000-7633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:7633000-7634600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:7633000-7636400	Weak transcription	Spleen	Spleen
33	chr4:7633200-7633800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:7633200-7633800	Enhancers	Osteobl	bone
35	chr4:7633200-7634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:7633200-7634200	Enhancers	HepG2	liver
37	chr4:7633200-7634800	Enhancers	Fetal Heart	heart
38	chr4:7633200-7635400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:7633200-7635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:7633200-7636600	Weak transcription	Esophagus	oesophagus
41	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
42	chr4:7633400-7633600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:7633400-7633600	Enhancers	NH-A	brain
44	chr4:7633400-7633600	Bivalent Enhancer	NHEK	skin
45	chr4:7633400-7635000	Enhancers	Brain Germinal Matrix	brain
46	chr4:7633400-7636400	Weak transcription	HSMM	muscle
47	chr4:7633400-7644400	Weak transcription	Ovary	ovary
48	chr4:7633600-7633800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:7633600-7633800	Flanking Active TSS	NH-A	brain
50	chr4:7633600-7634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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