Variant report

Variant	esv18180
Chromosome Location	chr4:6895182-6900570
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
2	chr4:6895522..6898076-chr4:6987277..6989270,2	K562	blood:
3	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
4	chr4:6720097..6722236-chr4:6897699..6899323,2	K562	blood:
5	chr4:6894765..6897271-chr4:7068956..7071796,2	MCF-7	breast:
6	chr4:6883009..6885178-chr4:6892808..6895702,2	K562	blood:
7	chr4:6729953..6732617-chr4:6895419..6897381,2	K562	blood:
8	chr4:6886066..6889013-chr4:6893099..6895187,2	K562	blood:
9	chr4:6892678..6895514-chr4:6919772..6922371,2	K562	blood:
10	chr4:6889053..6892272-chr4:6892737..6895879,4	K562	blood:
11	chr4:6734514..6737444-chr4:6894118..6897087,2	K562	blood:
12	chr4:6891429..6893781-chr4:6896508..6898133,2	K562	blood:
13	chr4:6885538..6887515-chr4:6893779..6896691,2	MCF-7	breast:
14	chr4:6896553..6898148-chr4:7068818..7071167,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	chromatin interactions
ENSG00000109519	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs60869557	chr4:6895185-6895186	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572978740	chr4:6895193-6895194	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572458097	chr4:6895201-6895202	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371119675	chr4:6895217-6895218	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540173455	chr4:6895262-6895263	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191406367	chr4:6895272-6895273	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9999210	chr4:6895280-6895281	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572211582	chr4:6895286-6895287	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370073810	chr4:6895293-6895294	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530042749	chr4:6895322-6895323	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557508402	chr4:6895345-6895346	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141969542	chr4:6895365-6895366	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541783511	chr4:6895370-6895371	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562992586	chr4:6895413-6895414	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573586620	chr4:6895432-6895433	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563335834	chr4:6895462-6895463	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183585273	chr4:6895482-6895483	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552623747	chr4:6895496-6895497	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143048665	chr4:6895512-6895513	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148271760	chr4:6895515-6895516	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570970284	chr4:6895527-6895528	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188726906	chr4:6895533-6895534	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534025016	chr4:6895543-6895544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528654143	chr4:6895544-6895545	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546981821	chr4:6895546-6895547	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs181099788	chr4:6895614-6895615	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533510069	chr4:6895634-6895635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550299425	chr4:6895647-6895648	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546249664	chr4:6895678-6895679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376258509	chr4:6895689-6895690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535856675	chr4:6895729-6895730	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549079567	chr4:6895739-6895740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565992836	chr4:6895746-6895747	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534589792	chr4:6895760-6895761	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557573328	chr4:6895780-6895781	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185316183	chr4:6895800-6895801	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577413722	chr4:6895830-6895831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376165968	chr4:6895844-6895845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs4476597	chr4:6895875-6895876	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141376306	chr4:6895881-6895882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189849319	chr4:6895982-6895983	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs3897958	chr4:6896003-6896004	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564744261	chr4:6896097-6896098	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576816125	chr4:6896104-6896105	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543947179	chr4:6896115-6896116	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368774856	chr4:6896150-6896151	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3864195	chr4:6896151-6896152	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572735595	chr4:6896160-6896161	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73082446	chr4:6896201-6896202	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181749965	chr4:6896215-6896216	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6890400-6895200	Weak transcription	Pancreas	Pancrea
2	chr4:6891400-6896000	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:6892000-6895600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:6892600-6895400	Enhancers	Lung	lung
5	chr4:6893000-6895800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:6893200-6895400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:6893200-6895400	Enhancers	Fetal Thymus	thymus
8	chr4:6893200-6895400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:6893400-6895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:6893400-6895400	Flanking Active TSS	HepG2	liver
11	chr4:6893400-6895400	Enhancers	NH-A	brain
12	chr4:6893400-6895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:6893400-6896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:6893400-6896800	Enhancers	Fetal Intestine Small	intestine
15	chr4:6893400-6897000	Enhancers	Fetal Intestine Large	intestine
16	chr4:6893600-6895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:6893600-6895800	Enhancers	Fetal Kidney	kidney
18	chr4:6893800-6895400	Flanking Active TSS	Liver	Liver
19	chr4:6893800-6895400	Enhancers	Small Intestine	intestine
20	chr4:6893800-6895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:6893800-6895600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:6893800-6896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:6894000-6895400	Enhancers	Gastric	stomach
24	chr4:6894000-6895600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:6894400-6895200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:6894400-6895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:6894400-6895400	Enhancers	GM12878-XiMat	blood
28	chr4:6894400-6895800	Enhancers	Primary B cells from cord blood	blood
29	chr4:6894400-6896000	Enhancers	Stomach Mucosa	stomach
30	chr4:6894400-6896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:6894400-6896400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:6894400-6896400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:6894400-6896400	Enhancers	Colonic Mucosa	Colon
34	chr4:6894400-6896400	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:6894400-6896400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr4:6894400-6896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:6894400-6896800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:6894400-6897000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:6894400-6897400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:6894400-6897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:6894400-6900600	Weak transcription	Primary T cells from cord blood	blood
42	chr4:6894600-6895400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:6894600-6895600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:6894600-6895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:6894600-6895600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:6894600-6895800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:6894600-6895800	Enhancers	Osteobl	bone
48	chr4:6894600-6897000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:6894600-6903000	Weak transcription	HSMM	muscle
50	chr4:6894600-6903600	Weak transcription	Right Atrium	heart

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