Variant report

Variant	esv1806286
Chromosome Location	chr4:110837287-110845707
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:
2	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:
3	chr4:110832543..110837844-chr4:110838197..110841134,5	K562	blood:
4	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
5	chr4:110831685..110835620-chr4:110836473..110840110,4	K562	blood:
6	chr4:110833711..110835957-chr4:110841133..110842667,2	MCF-7	breast:
7	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138798	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:332 , 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	rs2250724	chr4:110837287-110837288	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113060502	chr4:110837358-110837359	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533090061	chr4:110837367-110837368	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2282782	chr4:110837382-110837383	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563315361	chr4:110837385-110837386	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187636886	chr4:110837430-110837431	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548817928	chr4:110837444-110837445	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568668577	chr4:110837451-110837452	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534369985	chr4:110837462-110837463	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115391975	chr4:110837489-110837490	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs578047909	chr4:110837496-110837497	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545431972	chr4:110837503-110837504	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113097224	chr4:110837520-110837521	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2347135	chr4:110837530-110837531	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556129784	chr4:110837546-110837547	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2298977	chr4:110837573-110837574	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367854833	chr4:110837579-110837580	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114644571	chr4:110837608-110837609	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555593317	chr4:110837615-110837616	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377622374	chr4:110837645-110837646	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2298978	chr4:110837667-110837668	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561119397	chr4:110837687-110837688	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541190702	chr4:110837715-110837716	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115489477	chr4:110837730-110837731	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75912212	chr4:110837746-110837747	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193055565	chr4:110837778-110837779	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531428464	chr4:110837779-110837780	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147474311	chr4:110837781-110837782	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548719888	chr4:110837791-110837792	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140106078	chr4:110837795-110837796	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549434464	chr4:110837835-110837836	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145530289	chr4:110837859-110837860	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547567644	chr4:110837871-110837872	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10032001	chr4:110837885-110837886	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539543147	chr4:110837898-110837899	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs3831508	chr4:110837903-110837904	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs397825707	chr4:110837906-110837907	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397715714	chr4:110837907-110837908	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112023088	chr4:110837910-110837911	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549813187	chr4:110837940-110837941	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569822040	chr4:110837966-110837967	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12504641	chr4:110837995-110837996	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538206205	chr4:110838003-110838004	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555496935	chr4:110838009-110838010	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2298979	chr4:110838126-110838127	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534653973	chr4:110838128-110838129	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557983876	chr4:110838144-110838145	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577867989	chr4:110838233-110838234	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543651929	chr4:110838247-110838248	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557059056	chr4:110838251-110838252	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110833600-110838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:110833800-110837600	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr4:110834000-110837400	Active TSS	Psoas Muscle	Psoas
4	chr4:110834000-110838400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:110834800-110837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:110835200-110842200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:110835400-110837400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:110835800-110837600	Enhancers	Fetal Heart	heart
11	chr4:110836000-110837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:110836200-110837400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:110836200-110837800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:110836200-110841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:110836400-110837400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:110836400-110837800	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:110836400-110840000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:110836600-110839600	Weak transcription	Right Ventricle	heart
19	chr4:110836600-110842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:110836800-110837600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:110836800-110842400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:110836800-110842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:110837000-110837600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:110837000-110837800	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:110837000-110840400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:110837000-110842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:110837200-110837600	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr4:110837200-110837800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:110837200-110837800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr4:110837200-110838000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:110837200-110839400	Weak transcription	Pancreas	Pancrea
33	chr4:110837200-110842000	Weak transcription	HSMMtube	muscle
34	chr4:110837400-110837600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:110837400-110837600	Enhancers	A549	lung
36	chr4:110837400-110837800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:110837400-110837800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:110837400-110837800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:110837400-110839600	Weak transcription	Psoas Muscle	Psoas
40	chr4:110837400-110842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:110837600-110838000	Enhancers	Fetal Intestine Small	intestine
42	chr4:110837600-110842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:110837800-110838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:110837800-110841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:110837800-110842200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:110838000-110840800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:110838000-110840800	Weak transcription	Fetal Intestine Small	intestine
49	chr4:110838000-110842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:110838200-110838400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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