Variant report

Variant	esv1803963
Chromosome Location	chr4:74105068-74116012
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74110343..74113153-chr4:74121857..74126145,5	MCF-7	breast:
2	chr4:74003190..74004710-chr4:74112693..74114696,2	MCF-7	breast:
3	chr4:73992431..73994769-chr4:74113758..74115831,2	K562	blood:
4	chr4:74103163..74106414-chr4:74122698..74126217,3	MCF-7	breast:
5	chr4:73433767..73436140-chr4:74111222..74113851,2	K562	blood:
6	chr4:74099463..74102347-chr4:74103511..74105287,2	MCF-7	breast:
7	chr4:74099811..74102120-chr4:74103829..74105781,2	MCF-7	breast:
8	chr4:74086780..74089405-chr4:74114803..74116855,3	K562	blood:
9	chr4:74085378..74089938-chr4:74109585..74113346,7	K562	blood:
10	chr4:74084419..74090074-chr4:74102131..74108477,7	K562	blood:
11	chr4:74078580..74080113-chr4:74115423..74117254,2	K562	blood:
12	chr4:74108645..74112551-chr4:74114263..74118175,3	MCF-7	breast:
13	chr4:74023196..74024938-chr4:74114235..74116444,2	K562	blood:
14	chr4:74094714..74099476-chr4:74109744..74111749,4	K562	blood:
15	chr4:74107320..74110128-chr4:74122442..74124984,2	MCF-7	breast:
16	chr4:74108645..74112551-chr4:74114263..74118175,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132466	chromatin interactions
ENSG00000156140	chromatin interactions
ENSG00000250220	chromatin interactions

Extended variants
information (count: 362 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28635268	chr4:74105068-74105069	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74609407	chr4:74105116-74105117	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575510844	chr4:74105161-74105162	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543026182	chr4:74105175-74105176	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561199885	chr4:74105194-74105195	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573316095	chr4:74105199-74105200	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540814347	chr4:74105231-74105232	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565519977	chr4:74105330-74105331	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532851829	chr4:74105344-74105345	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575352403	chr4:74105346-74105347	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544292250	chr4:74105352-74105353	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146639676	chr4:74105465-74105466	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563204380	chr4:74105478-74105479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191337606	chr4:74105551-74105552	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141190173	chr4:74105641-74105642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566421293	chr4:74105651-74105652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539870188	chr4:74105671-74105672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76584949	chr4:74105691-74105692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145015842	chr4:74105736-74105737	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570267931	chr4:74105739-74105740	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151201540	chr4:74105748-74105749	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111719604	chr4:74105767-74105768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145753647	chr4:74105800-74105801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574700528	chr4:74105867-74105868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559737594	chr4:74105943-74105944	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371639236	chr4:74106022-74106023	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189513520	chr4:74106149-74106150	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369823412	chr4:74106175-74106176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34164034	chr4:74106176-74106177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs397993983	chr4:74106192-74106193	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs62311894	chr4:74106194-74106195	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181942922	chr4:74106275-74106276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550963564	chr4:74106280-74106281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75485526	chr4:74106299-74106300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565381588	chr4:74106314-74106315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115829818	chr4:74106349-74106350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544834163	chr4:74106351-74106352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372405728	chr4:74106356-74106357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532805157	chr4:74106385-74106386	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552603001	chr4:74106394-74106395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs72861885	chr4:74106436-74106437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189967896	chr4:74106458-74106459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530449230	chr4:74106475-74106476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563002735	chr4:74106478-74106479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114290890	chr4:74106514-74106515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111961579	chr4:74106524-74106525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78635661	chr4:74106543-74106544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62311895	chr4:74106545-74106546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114940654	chr4:74106567-74106568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527379559	chr4:74106583-74106584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087600-74116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:74087800-74123400	Weak transcription	Gastric	stomach
6	chr4:74088800-74111000	Weak transcription	Colonic Mucosa	Colon
7	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
8	chr4:74089200-74108800	Weak transcription	Right Ventricle	heart
9	chr4:74089200-74109400	Weak transcription	Fetal Brain Female	brain
10	chr4:74089200-74111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:74089200-74111600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:74089200-74117600	Weak transcription	NHDF-Ad	bronchial
13	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
14	chr4:74089400-74121800	Weak transcription	NHLF	lung
15	chr4:74089600-74111800	Weak transcription	Fetal Heart	heart
16	chr4:74089800-74112000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:74091000-74111000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:74091200-74107800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:74091200-74110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:74093200-74116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:74096600-74111000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:74097000-74105200	Strong transcription	Primary B cells from cord blood	blood
23	chr4:74097800-74111000	Weak transcription	Psoas Muscle	Psoas
24	chr4:74099800-74122400	Weak transcription	Stomach Mucosa	stomach
25	chr4:74100800-74105800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:74100800-74111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:74100800-74117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:74100800-74117600	Weak transcription	Osteobl	bone
29	chr4:74100800-74119800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:74101000-74105400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:74101000-74105800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:74101000-74106200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:74101000-74106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:74101000-74106800	Weak transcription	HUVEC	blood vessel
35	chr4:74101000-74108600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:74101000-74109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:74101000-74109400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:74101000-74110600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:74101000-74110600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:74101000-74111000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:74101000-74111000	Weak transcription	HSMMtube	muscle
42	chr4:74101000-74111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:74101000-74111800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:74101000-74111800	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:74101000-74116000	Weak transcription	Spleen	Spleen
46	chr4:74101000-74117400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:74101000-74117600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:74101000-74118800	Weak transcription	HSMM	muscle
49	chr4:74101000-74119600	Weak transcription	Fetal Brain Male	brain
50	chr4:74101000-74119800	Weak transcription	Fetal Lung	lung

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