Variant report

Variant	esv3491706
Chromosome Location	chr4:6894126-6901649
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6894765..6897271-chr4:7068956..7071796,2	MCF-7	breast:
2	chr4:6900593..6906797-chr4:6907719..6912652,10	MCF-7	breast:
3	chr4:6892678..6895514-chr4:6919772..6922371,2	K562	blood:
4	chr4:6729953..6732617-chr4:6895419..6897381,2	K562	blood:
5	chr4:6895522..6898076-chr4:6987277..6989270,2	K562	blood:
6	chr4:6893893..6894818-chr4:7072137..7072790,2	MCF-7	breast:
7	chr4:6885538..6887515-chr4:6893779..6896691,2	MCF-7	breast:
8	chr4:6734514..6737444-chr4:6894118..6897087,2	K562	blood:
9	chr4:6716842..6719180-chr4:6892770..6894428,2	K562	blood:
10	chr4:6889053..6892272-chr4:6892737..6895879,4	K562	blood:
11	chr4:6894128..6894976-chr8:99305696..99306577,2	NB4	blood:
12	chr4:6891429..6893781-chr4:6896508..6898133,2	K562	blood:
13	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
14	chr4:6883009..6885178-chr4:6892808..6895702,2	K562	blood:
15	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
16	chr4:6720097..6722236-chr4:6897699..6899323,2	K562	blood:
17	chr4:6896553..6898148-chr4:7068818..7071167,2	K562	blood:
18	chr4:6891115..6895158-chr4:6915729..6918708,4	K562	blood:
19	chr4:6891499..6893475-chr4:6901375..6904358,2	K562	blood:
20	chr4:6886066..6889013-chr4:6893099..6895187,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186222	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000104361	chromatin interactions

Extended variants
information (count: 320 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568489378	chr4:6894142-6894143	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534285368	chr4:6894145-6894146	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182240198	chr4:6894157-6894158	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531021011	chr4:6894184-6894185	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77685879	chr4:6894188-6894189	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552538515	chr4:6894193-6894194	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs187321325	chr4:6894202-6894203	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576373230	chr4:6894218-6894219	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190243611	chr4:6894238-6894239	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183701615	chr4:6894272-6894273	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs4482763	chr4:6894305-6894306	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs116719282	chr4:6894398-6894399	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548807198	chr4:6894399-6894400	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532773943	chr4:6894410-6894411	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549332434	chr4:6894427-6894428	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569230575	chr4:6894509-6894510	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141192055	chr4:6894517-6894518	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548535222	chr4:6894519-6894520	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112962414	chr4:6894521-6894522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376452627	chr4:6894549-6894550	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534080502	chr4:6894562-6894563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554245847	chr4:6894631-6894632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188221629	chr4:6894674-6894675	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539860491	chr4:6894705-6894706	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556573338	chr4:6894731-6894732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576436948	chr4:6894752-6894753	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542096614	chr4:6894753-6894754	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555318855	chr4:6894758-6894759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs74885912	chr4:6894769-6894770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs113429821	chr4:6894778-6894779	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs373045598	chr4:6894793-6894794	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs535393841	chr4:6894849-6894850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs111487973	chr4:6894858-6894859	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs193270731	chr4:6894879-6894880	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574829906	chr4:6894922-6894923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs543042334	chr4:6894930-6894931	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs373032216	chr4:6894939-6894940	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs185435327	chr4:6894981-6894982	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146962280	chr4:6894987-6894988	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562199952	chr4:6895022-6895023	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527897753	chr4:6895102-6895103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs377184916	chr4:6895103-6895104	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56162351	chr4:6895110-6895111	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535575061	chr4:6895111-6895112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs554284765	chr4:6895112-6895113	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs386399168	chr4:6895119-6895120	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs397818376	chr4:6895120-6895121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs570981879	chr4:6895125-6895126	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187651785	chr4:6895166-6895167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs60869557	chr4:6895185-6895186	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6890400-6894200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:6890400-6895200	Weak transcription	Pancreas	Pancrea
3	chr4:6891400-6896000	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:6891800-6894200	Weak transcription	Fetal Heart	heart
5	chr4:6891800-6894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:6892000-6895600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:6892600-6894800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:6892600-6895400	Enhancers	Lung	lung
9	chr4:6893000-6895800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:6893200-6894400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:6893200-6894600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr4:6893200-6894600	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:6893200-6894600	Enhancers	Placenta	Placenta
14	chr4:6893200-6894800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:6893200-6894800	Enhancers	NHDF-Ad	bronchial
16	chr4:6893200-6895000	Enhancers	Spleen	Spleen
17	chr4:6893200-6895400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:6893200-6895400	Enhancers	Fetal Thymus	thymus
19	chr4:6893200-6895400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:6893400-6894200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:6893400-6894400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:6893400-6894400	Enhancers	Right Ventricle	heart
23	chr4:6893400-6894600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:6893400-6894600	Enhancers	HSMM	muscle
25	chr4:6893400-6894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:6893400-6894800	Enhancers	Fetal Stomach	stomach
27	chr4:6893400-6894800	Flanking Active TSS	K562	blood
28	chr4:6893400-6894800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:6893400-6895000	Enhancers	NHLF	lung
30	chr4:6893400-6895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:6893400-6895400	Flanking Active TSS	HepG2	liver
32	chr4:6893400-6895400	Enhancers	NH-A	brain
33	chr4:6893400-6895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:6893400-6896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:6893400-6896800	Enhancers	Fetal Intestine Small	intestine
36	chr4:6893400-6897000	Enhancers	Fetal Intestine Large	intestine
37	chr4:6893600-6894200	Enhancers	Brain Hippocampus Middle	brain
38	chr4:6893600-6894200	Enhancers	Thymus	Thymus
39	chr4:6893600-6894400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr4:6893600-6894400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr4:6893600-6894400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:6893600-6894400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr4:6893600-6894600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:6893600-6894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:6893600-6894600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:6893600-6894800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:6893600-6894800	Enhancers	Fetal Lung	lung
48	chr4:6893600-6894800	Flanking Active TSS	A549	lung
49	chr4:6893600-6894800	Enhancers	HSMMtube	muscle
50	chr4:6893600-6895000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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