Variant report

Variant	esv11773
Chromosome Location	chr4:3829783-3830793
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	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
2	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
3	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
4	chr4:3829429..3832344-chr4:3838396..3840116,3	K562	blood:
5	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:
6	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
7	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
8	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
9	chr4:3829853..3832669-chr4:3854870..3857494,2	MCF-7	breast:

No data

Extended variants
information (count: 69 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570682550	chr4:3829783-3829784	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539586310	chr4:3829791-3829792	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556416186	chr4:3829799-3829800	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73082738	chr4:3829807-3829808	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535554080	chr4:3829812-3829813	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73082740	chr4:3829842-3829843	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73082742	chr4:3829864-3829865	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542619044	chr4:3829866-3829867	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144328900	chr4:3829872-3829873	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558414802	chr4:3829876-3829877	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs578197247	chr4:3829913-3829914	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73082745	chr4:3829948-3829949	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563540069	chr4:3829966-3829967	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs80092043	chr4:3829979-3829980	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372323833	chr4:3829980-3829981	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146599687	chr4:3829983-3829984	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559467645	chr4:3829994-3829995	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs117981557	chr4:3830000-3830001	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs551517352	chr4:3830001-3830002	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570698266	chr4:3830007-3830008	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188788352	chr4:3830018-3830019	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181222220	chr4:3830057-3830058	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549961690	chr4:3830065-3830066	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569856597	chr4:3830082-3830083	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535697589	chr4:3830097-3830098	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141334367	chr4:3830108-3830109	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529232851	chr4:3830133-3830134	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550490106	chr4:3830152-3830153	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533936320	chr4:3830169-3830170	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145116930	chr4:3830172-3830173	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557488642	chr4:3830173-3830174	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs578160074	chr4:3830191-3830192	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78532445	chr4:3830193-3830194	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28674146	chr4:3830222-3830223	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76220017	chr4:3830260-3830261	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28574962	chr4:3830279-3830280	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs62291155	chr4:3830311-3830312	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62291156	chr4:3830315-3830316	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533723972	chr4:3830319-3830320	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183886280	chr4:3830334-3830335	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565145766	chr4:3830381-3830382	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148365889	chr4:3830401-3830402	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555449267	chr4:3830418-3830419	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567855401	chr4:3830421-3830422	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140605053	chr4:3830429-3830430	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112619931	chr4:3830458-3830459	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112185088	chr4:3830461-3830462	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73082748	chr4:3830469-3830470	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565738239	chr4:3830473-3830474	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34940053	chr4:3830493-3830494	Weak transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3823800-3832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:3824400-3831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:3827200-3831400	Enhancers	Liver	Liver
4	chr4:3828200-3830200	Enhancers	Right Ventricle	heart
5	chr4:3828400-3830200	Flanking Active TSS	HepG2	liver
6	chr4:3828400-3833400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:3828600-3829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:3828600-3830200	Enhancers	Lung	lung
9	chr4:3828600-3830200	Enhancers	Ovary	ovary
10	chr4:3828600-3830400	Enhancers	Spleen	Spleen
11	chr4:3828600-3832200	Enhancers	Fetal Brain Male	brain
12	chr4:3828600-3833400	Enhancers	Brain Germinal Matrix	brain
13	chr4:3828600-3833800	Enhancers	Pancreas	Pancrea
14	chr4:3828800-3829800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:3828800-3830600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:3829000-3829800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr4:3829000-3830000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:3829000-3830000	Enhancers	Adipose Nuclei	Adipose
19	chr4:3829000-3830000	Enhancers	Left Ventricle	heart
20	chr4:3829000-3830000	Enhancers	Right Atrium	heart
21	chr4:3829000-3830000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr4:3829000-3830200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:3829000-3830400	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:3829200-3829800	Enhancers	Esophagus	oesophagus
25	chr4:3829200-3829800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr4:3829200-3830200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:3829200-3830200	Enhancers	Brain Substantia Nigra	brain
28	chr4:3829200-3830200	Enhancers	Colon Smooth Muscle	Colon
29	chr4:3829400-3829800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:3829400-3829800	Enhancers	Brain Angular Gyrus	brain
31	chr4:3829400-3829800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr4:3829400-3829800	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr4:3829400-3830000	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:3829400-3830000	Enhancers	Fetal Brain Female	brain
35	chr4:3829400-3830000	Enhancers	Fetal Lung	lung
36	chr4:3829400-3830000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr4:3829400-3830000	Enhancers	HSMMtube	muscle
38	chr4:3829400-3830200	Bivalent Enhancer	Fetal Stomach	stomach
39	chr4:3829400-3830200	Enhancers	A549	lung
40	chr4:3829400-3832200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:3829600-3829800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr4:3829600-3829800	Enhancers	Colonic Mucosa	Colon
43	chr4:3829600-3830000	Bivalent Enhancer	Placenta	Placenta
44	chr4:3829600-3830000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr4:3829600-3830400	Enhancers	Gastric	stomach
46	chr4:3829600-3833000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:3829600-3835000	Weak transcription	Brain Anterior Caudate	brain
48	chr4:3829800-3830000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:3829800-3830000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:3829800-3830000	Enhancers	Rectal Smooth Muscle	rectum

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