Variant report

Variant	esv3360093
Chromosome Location	chr4:7295751-7298099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7193590..7194707-chr4:7297338..7298352,5	MCF-7	breast:
2	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:
3	chr4:7153324..7154166-chr4:7297397..7298037,2	MCF-7	breast:
4	chr4:7193764..7194622-chr4:7297791..7298316,3	K562	blood:
5	chr4:7195671..7196829-chr4:7297061..7298292,4	MCF-7	breast:
6	chr4:7192934..7196110-chr4:7296657..7299976,3	MCF-7	breast:
7	chr4:7196173..7199298-chr4:7297617..7300967,3	MCF-7	breast:
8	chr4:7193728..7194793-chr4:7297053..7298951,15	MCF-7	breast:
9	chr4:7195636..7196730-chr4:7297372..7298445,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184985	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150551160	chr4:7295769-7295770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79241102	chr4:7295772-7295773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112616411	chr4:7295783-7295784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60147274	chr4:7295792-7295793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181570365	chr4:7295793-7295794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561671125	chr4:7295821-7295822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531888927	chr4:7295852-7295853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149581028	chr4:7295878-7295879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144294506	chr4:7295879-7295880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185674929	chr4:7295891-7295892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79781879	chr4:7295895-7295896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192507206	chr4:7295898-7295899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527521939	chr4:7295929-7295930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10937800	chr4:7295943-7295944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183836500	chr4:7295944-7295945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572727057	chr4:7295949-7295950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140095507	chr4:7295993-7295994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542973504	chr4:7296030-7296031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78673260	chr4:7296065-7296066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571279998	chr4:7296075-7296076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538752145	chr4:7296106-7296107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553810425	chr4:7296126-7296127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79178630	chr4:7296134-7296135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188013727	chr4:7296143-7296144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554847251	chr4:7296146-7296147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111355840	chr4:7296148-7296149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555203712	chr4:7296166-7296167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562471201	chr4:7296176-7296177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532916020	chr4:7296193-7296194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545010960	chr4:7296217-7296218	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547369799	chr4:7296219-7296220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs575951999	chr4:7296257-7296258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs560335299	chr4:7296270-7296271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs527376331	chr4:7296271-7296272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377699069	chr4:7296284-7296285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs143565268	chr4:7296344-7296345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs567315145	chr4:7296378-7296379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs138190603	chr4:7296395-7296396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs531655702	chr4:7296399-7296400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs567327825	chr4:7296412-7296413	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs146801615	chr4:7296444-7296445	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530660510	chr4:7296460-7296461	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371287457	chr4:7296492-7296493	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182165441	chr4:7296530-7296531	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187235101	chr4:7296574-7296575	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549062877	chr4:7296627-7296628	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	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
48	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
49	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
50	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

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:119 , 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	chr4:7294200-7295800	Weak transcription	Brain Substantia Nigra	brain
20	chr4:7294200-7296800	Weak transcription	Right Ventricle	heart
21	chr4:7294200-7297000	Weak transcription	Brain Germinal Matrix	brain
22	chr4:7294200-7297200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:7295400-7297000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:7295600-7296000	Enhancers	Fetal Brain Female	brain
25	chr4:7295600-7297000	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:7295600-7297200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:7295800-7296200	Enhancers	Brain Substantia Nigra	brain
28	chr4:7296200-7296400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr4:7296200-7297200	Weak transcription	Brain Substantia Nigra	brain
30	chr4:7296400-7296800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7296400-7297000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr4:7296400-7297000	Flanking Active TSS	HSMM	muscle
33	chr4:7296800-7297000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:7296800-7297400	Enhancers	Fetal Brain Male	brain
35	chr4:7296800-7297800	Enhancers	Fetal Stomach	stomach
36	chr4:7296800-7298000	Enhancers	Right Ventricle	heart
37	chr4:7296800-7301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:7297000-7297200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:7297000-7297200	Enhancers	Brain Germinal Matrix	brain
40	chr4:7297000-7297200	Active TSS	Brain Hippocampus Middle	brain
41	chr4:7297000-7297200	Enhancers	Colonic Mucosa	Colon
42	chr4:7297000-7297200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:7297000-7297400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:7297000-7297400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:7297000-7297400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:7297000-7297400	Active TSS	Colon Smooth Muscle	Colon
47	chr4:7297000-7297400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr4:7297000-7297400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr4:7297000-7297600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:7297000-7297600	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links