Variant report

Variant	esv3362074
Chromosome Location	chr4:10181354-10181927
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10179643..10181436-chr4:10389855..10391388,2	K562	blood:
2	chr4:10180991..10184001-chr4:10327240..10329402,3	K562	blood:
3	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
4	chr4:10116716..10122622-chr4:10178049..10187480,27	K562	blood:
5	chr4:10160663..10163901-chr4:10177399..10182680,5	K562	blood:
6	chr4:10181069..10182933-chr4:10345413..10347984,3	K562	blood:
7	chr4:10179915..10182843-chr4:10450700..10452839,2	K562	blood:
8	chr4:10180113..10182537-chr4:10415151..10418343,3	K562	blood:
9	chr4:10179301..10181367-chr4:10408418..10410454,2	K562	blood:
10	chr4:10181502..10184182-chr4:38665329..38667544,2	K562	blood:
11	chr4:10181426..10184302-chr4:10237283..10239761,3	K562	blood:
12	chr4:10181898..10186356-chr4:10317430..10320755,4	K562	blood:
13	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
14	chr4:10180991..10182787-chr4:10327240..10329402,2	K562	blood:
15	chr4:10132922..10135214-chr4:10181103..10182859,2	K562	blood:
16	chr4:10181292..10183606-chr4:10239969..10241672,2	K562	blood:
17	chr4:10181386..10184366-chr4:10364568..10366943,2	K562	blood:
18	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:
19	chr4:10177971..10181867-chr4:10459708..10464611,4	K562	blood:
20	chr4:10112946..10115430-chr4:10181535..10185097,4	K562	blood:
21	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223086	chromatin interactions
ENSG00000231160	chromatin interactions
ENSG00000109787	chromatin interactions
ENSG00000196355	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115383735	chr4:10181361-10181362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs723663	chr4:10181374-10181375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs534996805	chr4:10181385-10181386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12500891	chr4:10181387-10181388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs568646228	chr4:10181394-10181395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74850865	chr4:10181420-10181421	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112487231	chr4:10181423-10181424	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575367694	chr4:10181451-10181452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539424287	chr4:10181464-10181465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140792540	chr4:10181474-10181475	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35150580	chr4:10181492-10181493	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144610159	chr4:10181601-10181602	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs80220208	chr4:10181602-10181603	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs561576473	chr4:10181624-10181625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs541650458	chr4:10181631-10181632	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs73089955	chr4:10181655-10181656	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559791640	chr4:10181662-10181663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs4697956	chr4:10181672-10181673	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs534168313	chr4:10181674-10181675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs377675712	chr4:10181677-10181678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs375311074	chr4:10181678-10181679	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs12642543	chr4:10181681-10181682	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567758976	chr4:10181686-10181687	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs116631997	chr4:10181715-10181716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs372502876	chr4:10181733-10181734	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs190541282	chr4:10181739-10181740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs138419065	chr4:10181744-10181745	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs149277312	chr4:10181754-10181755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs568732473	chr4:10181776-10181777	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs374860080	chr4:10181792-10181793	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs536063943	chr4:10181805-10181806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs551146189	chr4:10181808-10181809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs116031199	chr4:10181812-10181813	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs539152859	chr4:10181844-10181845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs376030298	chr4:10181872-10181873	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs113694765	chr4:10181880-10181881	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs111341932	chr4:10181900-10181901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs62285983	chr4:10181917-10181918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs148346884	chr4:10181918-10181919	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs373809004	chr4:10181919-10181920	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs2068466	chr4:10181921-10181922	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10175200-10189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:10176000-10181400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:10176200-10183600	Weak transcription	Right Atrium	heart
4	chr4:10176400-10182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:10176800-10182600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:10177400-10181600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:10177800-10182400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:10177800-10186400	Weak transcription	Right Ventricle	heart
9	chr4:10178000-10181600	Weak transcription	Osteobl	bone
10	chr4:10178000-10181800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:10178000-10182600	Weak transcription	Placenta	Placenta
12	chr4:10178200-10181400	Weak transcription	HSMMtube	muscle
13	chr4:10178200-10182200	Weak transcription	HMEC	breast
14	chr4:10180800-10181400	Weak transcription	Left Ventricle	heart
15	chr4:10180800-10182200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:10180800-10182200	Enhancers	Fetal Heart	heart
17	chr4:10181000-10182200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:10181000-10182800	Flanking Active TSS	K562	blood
19	chr4:10181200-10182600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:10181200-10186800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:10181200-10189000	Enhancers	HSMM	muscle
22	chr4:10181400-10182800	Enhancers	Left Ventricle	heart
23	chr4:10181400-10183800	Enhancers	HSMMtube	muscle
24	chr4:10181400-10186600	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:10181600-10182200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr4:10181600-10184000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:10181600-10184000	Enhancers	Osteobl	bone
28	chr4:10181600-10185000	Enhancers	NHDF-Ad	bronchial
29	chr4:10181600-10186400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:10181800-10182200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:10181800-10182800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:10181800-10182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:10181800-10183800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:10181800-10184000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:10181800-10184000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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