Variant report

Variant	esv3376319
Chromosome Location	chr4:8263077-8265925
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8261537..8264221-chr4:8264274..8265849,2	MCF-7	breast:
2	chr4:8252135..8255007-chr4:8262927..8264616,3	K562	blood:
3	chr4:8261537..8264221-chr4:8264274..8265849,2	MCF-7	breast:
4	chr4:8261994..8265646-chr4:8266271..8270310,6	MCF-7	breast:
5	chr4:8254660..8257385-chr4:8260489..8263167,2	MCF-7	breast:
6	chr4:8261913..8264810-chr4:8267913..8270603,2	K562	blood:
7	chr4:8252135..8254748-chr4:8262223..8264616,3	K562	blood:
8	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
9	chr4:8242105..8244343-chr4:8260959..8263973,3	MCF-7	breast:
10	chr4:8262200..8264510-chr4:8428848..8430829,2	MCF-7	breast:
11	chr4:8263022..8264524-chr4:8271054..8272671,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125089	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000170801	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568299925	chr4:8263108-8263109	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535758997	chr4:8263110-8263111	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529091006	chr4:8263145-8263146	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs550280029	chr4:8263165-8263166	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568840380	chr4:8263167-8263168	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539500361	chr4:8263188-8263189	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548357005	chr4:8263191-8263192	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113806866	chr4:8263192-8263193	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs563823192	chr4:8263206-8263207	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557927062	chr4:8263211-8263212	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530935071	chr4:8263229-8263230	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs377030173	chr4:8263236-8263237	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534423022	chr4:8263240-8263241	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs150250422	chr4:8263276-8263277	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556078064	chr4:8263281-8263282	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs58637339	chr4:8263282-8263283	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs116027446	chr4:8263283-8263284	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561879031	chr4:8263284-8263285	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs371315499	chr4:8263286-8263287	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs7692203	chr4:8263294-8263295	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs544909791	chr4:8263316-8263317	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557543621	chr4:8263376-8263377	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570551329	chr4:8263389-8263390	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146211584	chr4:8263390-8263391	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7698121	chr4:8263415-8263416	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs59294661	chr4:8263441-8263442	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs367779379	chr4:8263467-8263468	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs62286483	chr4:8263540-8263541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs6447853	chr4:8263567-8263568	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111974300	chr4:8263579-8263580	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs550860728	chr4:8263587-8263588	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs111226915	chr4:8263604-8263605	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs139241007	chr4:8263665-8263666	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs551479319	chr4:8263689-8263690	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs566604774	chr4:8263694-8263695	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs77480663	chr4:8263697-8263698	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555650318	chr4:8263718-8263719	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs62286484	chr4:8263769-8263770	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs112756290	chr4:8263770-8263771	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538113320	chr4:8263787-8263788	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs556854535	chr4:8263799-8263800	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs183948082	chr4:8263810-8263811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545036701	chr4:8263824-8263825	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553767797	chr4:8263826-8263827	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs115469190	chr4:8263837-8263838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs557779510	chr4:8263935-8263936	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs542716981	chr4:8263940-8263941	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs561690870	chr4:8263966-8263967	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529129106	chr4:8263967-8263968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs145922962	chr4:8264002-8264003	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8249800-8268400	Weak transcription	Right Atrium	heart
2	chr4:8249800-8268600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:8254800-8271600	Weak transcription	Gastric	stomach
4	chr4:8256000-8264800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:8258000-8263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:8258000-8271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:8259600-8264800	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:8259600-8264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:8260400-8263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:8260400-8265400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8260800-8263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:8261400-8265400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8261800-8263200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:8261800-8263600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:8261800-8264600	Enhancers	Placenta	Placenta
16	chr4:8261800-8265400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:8262000-8263400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:8262000-8263400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:8262000-8264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:8262200-8263200	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:8262400-8263200	Enhancers	Adipose Nuclei	Adipose
22	chr4:8262400-8263400	Bivalent Enhancer	HepG2	liver
23	chr4:8262400-8264200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:8262600-8263400	Enhancers	NHLF	lung
25	chr4:8262600-8263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:8262600-8263600	Enhancers	HSMM	muscle
27	chr4:8262600-8263600	Enhancers	NH-A	brain
28	chr4:8262600-8263800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:8262600-8263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:8262600-8264200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:8262600-8264200	Enhancers	Osteobl	bone
32	chr4:8262600-8264600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:8262600-8265200	Enhancers	Spleen	Spleen
34	chr4:8262800-8263800	Enhancers	Lung	lung
35	chr4:8262800-8264000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8262800-8264200	Enhancers	Fetal Thymus	thymus
37	chr4:8262800-8264800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:8262800-8265400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:8263000-8263200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:8263000-8263200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:8263000-8264800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr4:8263000-8268200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:8263000-8268400	Weak transcription	Fetal Lung	lung
44	chr4:8263000-8268400	Weak transcription	Right Ventricle	heart
45	chr4:8263000-8268600	Weak transcription	A549	lung
46	chr4:8263000-8269200	Weak transcription	Esophagus	oesophagus
47	chr4:8263200-8265000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:8263200-8268400	Weak transcription	Adipose Nuclei	Adipose
49	chr4:8263200-8268400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:8263400-8263600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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