Variant report

Variant	esv1839653
Chromosome Location	chr4:99814879-99816938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99815239-99815276	MCF-7	breast:	n/a	n/a
2	POLR2A	chr4:99815464-99815478	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:99816245-99816441	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:99815529-99815621	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:99814889-99814910	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:99815308-99815460	MCF-7	breast:	n/a	n/a
7	POLR2A	chr4:99816463-99816560	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:99815726-99815754	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:99815269-99815411	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:99814722-99815029	A549	lung:	n/a	n/a
11	POLR2A	chr4:99814770-99816031	K562	blood:	n/a	n/a
12	POLR2A	chr4:99815238-99815243	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:99815736-99816029	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:99816079-99816206	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:99815534-99815535	MCF-7	breast:	n/a	n/a
16	POLR2A	chr4:99816263-99816797	K562	blood:	n/a	n/a
17	POLR2A	chr4:99815684-99815690	MCF-7	breast:	n/a	n/a
18	TBL1XR1	chr4:99815960-99815986	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99814286..99815884-chr4:99849314..99850925,2	MCF-7	breast:
2	chr4:99815975..99818089-chr4:99818549..99820506,2	MCF-7	breast:
3	chr4:99618025..99620213-chr4:99815126..99816647,2	K562	blood:
4	chr4:99815882..99818717-chr4:99847695..99851571,3	K562	blood:

No data

Variant related genes	Relation type
EIF4E	TF binding region
ENSG00000238449	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000263923	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13113722	chr4:99814879-99814880	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532666670	chr4:99814881-99814882	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186147105	chr4:99814884-99814885	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs190913706	chr4:99814912-99814913	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577177008	chr4:99814982-99814983	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs374723453	chr4:99814988-99814989	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112305537	chr4:99815003-99815004	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567384532	chr4:99815032-99815033	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77203752	chr4:99815058-99815059	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs183508064	chr4:99815127-99815128	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs115861266	chr4:99815186-99815187	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs72893542	chr4:99815247-99815248	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144386910	chr4:99815395-99815396	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568508357	chr4:99815407-99815408	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148807423	chr4:99815410-99815411	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535968778	chr4:99815414-99815415	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs554226728	chr4:99815474-99815475	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs572813275	chr4:99815491-99815492	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs13109000	chr4:99815531-99815532	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143783545	chr4:99815535-99815536	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs577474424	chr4:99815578-99815579	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs528626295	chr4:99815617-99815618	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs562900113	chr4:99815693-99815694	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541951757	chr4:99815771-99815772	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187554195	chr4:99815810-99815811	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150794010	chr4:99815857-99815858	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541109638	chr4:99815899-99815900	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs542211740	chr4:99815926-99815927	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs79940470	chr4:99815950-99815951	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs527740257	chr4:99816001-99816002	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs12643506	chr4:99816003-99816004	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs146855750	chr4:99816023-99816024	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564924634	chr4:99816086-99816087	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532317836	chr4:99816116-99816117	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs72692635	chr4:99816159-99816160	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139591016	chr4:99816170-99816171	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs10004975	chr4:99816227-99816228	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200637354	chr4:99816307-99816308	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs191199216	chr4:99816322-99816323	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs566564172	chr4:99816333-99816334	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs533611048	chr4:99816334-99816335	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs34164768	chr4:99816349-99816350	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182999323	chr4:99816366-99816367	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs376811990	chr4:99816417-99816418	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs116273034	chr4:99816470-99816471	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs556912316	chr4:99816511-99816512	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs144310479	chr4:99816521-99816522	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs542250089	chr4:99816541-99816542	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs528717553	chr4:99816577-99816578	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs567609064	chr4:99816589-99816590	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	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
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:99800000-99815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:99802200-99815200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
17	chr4:99802600-99824400	Strong transcription	Dnd41	blood
18	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
20	chr4:99802800-99830200	Weak transcription	Ovary	ovary
21	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
22	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:99803200-99816000	Weak transcription	Stomach Mucosa	stomach
24	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:99803400-99817400	Weak transcription	NHLF	lung
26	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
28	chr4:99804800-99816800	Strong transcription	HSMM	muscle
29	chr4:99804800-99820600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
32	chr4:99805600-99815200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr4:99805800-99817200	Strong transcription	Osteobl	bone
34	chr4:99806000-99815800	Weak transcription	Small Intestine	intestine
35	chr4:99807200-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
37	chr4:99807400-99822000	Weak transcription	Hela-S3	cervix
38	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:99807800-99817800	Weak transcription	Lung	lung
41	chr4:99807800-99822200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:99807800-99822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:99808000-99815800	Weak transcription	Fetal Intestine Small	intestine
45	chr4:99808000-99817400	Weak transcription	HSMMtube	muscle
46	chr4:99808000-99822000	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:99808200-99816000	Weak transcription	Brain Anterior Caudate	brain
49	chr4:99808400-99817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:99808400-99817400	Weak transcription	Brain Inferior Temporal Lobe	brain

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