Variant report

Variant	esv3467679
Chromosome Location	chr4:107054603-107060101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107057719..107060245-chr4:107065228..107066927,2	K562	blood:

Extended variants
information (count: 161 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs539507766	chr4:107054670-107054671	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183091948	chr4:107054679-107054680	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575992197	chr4:107054682-107054683	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542190926	chr4:107054701-107054702	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143182503	chr4:107054755-107054756	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188167521	chr4:107054763-107054764	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192446656	chr4:107054806-107054807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75104199	chr4:107054818-107054819	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182254399	chr4:107054888-107054889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186622547	chr4:107054894-107054895	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113466448	chr4:107054933-107054934	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12646485	chr4:107054965-107054966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370440348	chr4:107054967-107054968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12643397	chr4:107054976-107054977	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs184784277	chr4:107054998-107054999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376872642	chr4:107055024-107055025	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200301456	chr4:107055035-107055036	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527978229	chr4:107055070-107055071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557719950	chr4:107055082-107055083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371136742	chr4:107055088-107055089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190085888	chr4:107055154-107055155	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539659104	chr4:107055162-107055163	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117861064	chr4:107055163-107055164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546489016	chr4:107055183-107055184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569793432	chr4:107055188-107055189	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535621052	chr4:107055189-107055190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78092586	chr4:107055190-107055191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111773480	chr4:107055191-107055192	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555720668	chr4:107055195-107055196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572356133	chr4:107055238-107055239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541396466	chr4:107055280-107055281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112708592	chr4:107055318-107055319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540473180	chr4:107055329-107055330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554127991	chr4:107055333-107055334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202242552	chr4:107055336-107055337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564672709	chr4:107055337-107055338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532026273	chr4:107055373-107055374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577079630	chr4:107055402-107055403	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374141230	chr4:107055408-107055409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546007383	chr4:107055459-107055460	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528656359	chr4:107055480-107055481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141405895	chr4:107055523-107055524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs531434514	chr4:107055625-107055626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541601710	chr4:107055654-107055655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67854597	chr4:107055661-107055662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571766172	chr4:107055694-107055695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13110325	chr4:107055696-107055697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527293264	chr4:107055699-107055700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73836997	chr4:107055721-107055722	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570793032	chr4:107055738-107055739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107032000-107058200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:107035200-107057200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:107035600-107083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:107037600-107056200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:107037600-107060600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:107037600-107061600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:107037600-107066400	Weak transcription	Fetal Kidney	kidney
8	chr4:107037800-107077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:107038000-107055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:107038000-107056800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:107038000-107112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:107051800-107054800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:107053000-107055200	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr4:107053200-107055200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:107053400-107055200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:107053400-107056200	Strong transcription	Ovary	ovary
17	chr4:107053600-107055200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:107053600-107067600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:107053800-107058200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:107053800-107061400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:107053800-107064200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:107053800-107070000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:107053800-107080000	Weak transcription	Right Ventricle	heart
24	chr4:107053800-107083400	Weak transcription	HSMM	muscle
25	chr4:107053800-107083800	Weak transcription	Left Ventricle	heart
26	chr4:107053800-107101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:107054000-107055200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:107054000-107055400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:107054000-107055600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:107054000-107055600	Weak transcription	Primary T cells from cord blood	blood
31	chr4:107054000-107055600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:107054000-107055600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:107054000-107057600	Weak transcription	Brain Substantia Nigra	brain
34	chr4:107054000-107057800	Weak transcription	Fetal Thymus	thymus
35	chr4:107054000-107057800	Weak transcription	Dnd41	blood
36	chr4:107054000-107063400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:107054000-107066400	Weak transcription	Liver	Liver
38	chr4:107054000-107067000	Weak transcription	Fetal Lung	lung
39	chr4:107054000-107067000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:107054000-107067800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:107054000-107070000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:107054000-107070400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:107054000-107074400	Weak transcription	HepG2	liver
44	chr4:107054000-107076800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr4:107054000-107077000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:107054000-107077000	Weak transcription	Fetal Intestine Large	intestine
47	chr4:107054000-107077400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:107054000-107077400	Weak transcription	Aorta	Aorta
49	chr4:107054000-107077400	Weak transcription	Fetal Stomach	stomach
50	chr4:107054000-107077400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links