Variant report

Variant	esv3420338
Chromosome Location	chr4:7296151-7297649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7195636..7196730-chr4:7297372..7298445,9	MCF-7	breast:
2	chr4:7192934..7196110-chr4:7296657..7299976,3	MCF-7	breast:
3	chr4:7193728..7194793-chr4:7297053..7298951,15	MCF-7	breast:
4	chr4:7196173..7199298-chr4:7297617..7300967,3	MCF-7	breast:
5	chr4:7153324..7154166-chr4:7297397..7298037,2	MCF-7	breast:
6	chr4:7195671..7196829-chr4:7297061..7298292,4	MCF-7	breast:
7	chr4:7193590..7194707-chr4:7297338..7298352,5	MCF-7	breast:
8	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555203712	chr4:7296166-7296167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562471201	chr4:7296176-7296177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532916020	chr4:7296193-7296194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545010960	chr4:7296217-7296218	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs547369799	chr4:7296219-7296220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs575951999	chr4:7296257-7296258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs560335299	chr4:7296270-7296271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs527376331	chr4:7296271-7296272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs377699069	chr4:7296284-7296285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs143565268	chr4:7296344-7296345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs567315145	chr4:7296378-7296379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs138190603	chr4:7296395-7296396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs531655702	chr4:7296399-7296400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs567327825	chr4:7296412-7296413	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146801615	chr4:7296444-7296445	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530660510	chr4:7296460-7296461	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371287457	chr4:7296492-7296493	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182165441	chr4:7296530-7296531	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187235101	chr4:7296574-7296575	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549062877	chr4:7296627-7296628	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191646092	chr4:7296657-7296658	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184552754	chr4:7296684-7296685	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567776945	chr4:7296691-7296692	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534694748	chr4:7296693-7296694	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111216320	chr4:7296731-7296732	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193286439	chr4:7296741-7296742	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565014652	chr4:7296804-7296805	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139754452	chr4:7296874-7296875	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538690367	chr4:7296950-7296951	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111726077	chr4:7296985-7296986	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190521551	chr4:7296986-7296987	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565868966	chr4:7297000-7297001	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536312699	chr4:7297002-7297003	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180921727	chr4:7297041-7297042	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369430494	chr4:7297076-7297077	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576513370	chr4:7297119-7297120	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374677783	chr4:7297124-7297125	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544104655	chr4:7297129-7297130	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541257691	chr4:7297158-7297159	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559332812	chr4:7297174-7297175	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538453220	chr4:7297193-7297194	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559308884	chr4:7297206-7297207	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577607447	chr4:7297217-7297218	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367674209	chr4:7297219-7297220	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545052001	chr4:7297228-7297229	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566666613	chr4:7297236-7297237	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560176951	chr4:7297278-7297279	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113098238	chr4:7297286-7297287	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116197846	chr4:7297287-7297288	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542329598	chr4:7297319-7297320	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7283400-7297000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7289200-7296800	Weak transcription	Fetal Brain Male	brain
3	chr4:7290400-7296400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:7291600-7297000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:7291800-7297200	Weak transcription	Liver	Liver
6	chr4:7293600-7300200	Weak transcription	Fetal Lung	lung
7	chr4:7293800-7296400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7293800-7297000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:7293800-7297000	Weak transcription	Right Atrium	heart
10	chr4:7293800-7297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:7293800-7297200	Weak transcription	Brain Angular Gyrus	brain
12	chr4:7293800-7297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:7293800-7304400	Weak transcription	Gastric	stomach
14	chr4:7294000-7297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:7294000-7297000	Weak transcription	Left Ventricle	heart
16	chr4:7294000-7297000	Weak transcription	Ovary	ovary
17	chr4:7294000-7297200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:7294000-7297200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:7294200-7296800	Weak transcription	Right Ventricle	heart
20	chr4:7294200-7297000	Weak transcription	Brain Germinal Matrix	brain
21	chr4:7294200-7297200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:7295400-7297000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:7295600-7297000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:7295600-7297200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:7295800-7296200	Enhancers	Brain Substantia Nigra	brain
26	chr4:7296200-7296400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr4:7296200-7297200	Weak transcription	Brain Substantia Nigra	brain
28	chr4:7296400-7296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:7296400-7297000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:7296400-7297000	Flanking Active TSS	HSMM	muscle
31	chr4:7296800-7297000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:7296800-7297400	Enhancers	Fetal Brain Male	brain
33	chr4:7296800-7297800	Enhancers	Fetal Stomach	stomach
34	chr4:7296800-7298000	Enhancers	Right Ventricle	heart
35	chr4:7296800-7301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:7297000-7297200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:7297000-7297200	Enhancers	Brain Germinal Matrix	brain
38	chr4:7297000-7297200	Active TSS	Brain Hippocampus Middle	brain
39	chr4:7297000-7297200	Enhancers	Colonic Mucosa	Colon
40	chr4:7297000-7297200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:7297000-7297400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:7297000-7297400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr4:7297000-7297400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:7297000-7297400	Active TSS	Colon Smooth Muscle	Colon
45	chr4:7297000-7297400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr4:7297000-7297400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr4:7297000-7297600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:7297000-7297600	Enhancers	Spleen	Spleen
49	chr4:7297000-7297600	Active TSS	HSMM	muscle
50	chr4:7297000-7297800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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