Variant report

Variant	esv275189
Chromosome Location	chr4:48204287-48205942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48204459..48206911-chr4:48210318..48213685,3	K562	blood:
2	chr4:48203930..48205918-chr4:48223677..48225744,2	K562	blood:
3	chr4:48204159..48206959-chr4:48343162..48344804,3	K562	blood:
4	chr4:48199323..48202790-chr4:48204123..48207429,4	K562	blood:
5	chr4:48204514..48206447-chr4:48263037..48265705,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369851703	chr4:48204291-48204292	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566115471	chr4:48204311-48204312	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539562654	chr4:48204317-48204318	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551521811	chr4:48204536-48204537	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs207464679	chr4:48204541-48204542	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2017242	chr4:48204594-48204595	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536926796	chr4:48204637-48204638	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111585757	chr4:48204639-48204640	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573292986	chr4:48204644-48204645	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575188016	chr4:48204701-48204702	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534660492	chr4:48204702-48204703	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73138445	chr4:48204716-48204717	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371331676	chr4:48204732-48204733	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73138446	chr4:48204780-48204781	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544797420	chr4:48204876-48204877	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147095135	chr4:48204981-48204982	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192279118	chr4:48205025-48205026	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544116789	chr4:48205055-48205056	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370580781	chr4:48205133-48205134	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562412714	chr4:48205177-48205178	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184664556	chr4:48205198-48205199	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1973578	chr4:48205275-48205276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559506941	chr4:48205276-48205277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572713238	chr4:48205297-48205298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539903244	chr4:48205312-48205313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565015957	chr4:48205355-48205356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551613644	chr4:48205393-48205394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187082255	chr4:48205407-48205408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75438246	chr4:48205416-48205417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191885503	chr4:48205443-48205444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567177146	chr4:48205450-48205451	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534627751	chr4:48205523-48205524	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552904240	chr4:48205526-48205527	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571182909	chr4:48205584-48205585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184395432	chr4:48205586-48205587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550582904	chr4:48205672-48205673	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71614024	chr4:48205689-48205690	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114367377	chr4:48205880-48205881	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576704888	chr4:48205906-48205907	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189146191	chr4:48205911-48205912	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574041136	chr4:48205914-48205915	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11942525	chr4:48205942-48205943	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:48196200-48207200	Weak transcription	Lung	lung
5	chr4:48198200-48207200	Weak transcription	Pancreas	Pancrea
6	chr4:48199000-48205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:48199400-48205200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:48200200-48204800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:48200200-48212400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:48200400-48205400	Weak transcription	Left Ventricle	heart
11	chr4:48200400-48205800	Weak transcription	Right Ventricle	heart
12	chr4:48200600-48204800	Enhancers	GM12878-XiMat	blood
13	chr4:48202000-48205400	Enhancers	K562	blood
14	chr4:48202200-48210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:48203000-48205200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:48203800-48204600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48203800-48212600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:48204000-48204400	Enhancers	Placenta	Placenta
19	chr4:48204000-48206000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:48204000-48206800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:48204000-48206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:48204200-48204800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:48204600-48212600	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:48204800-48205000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:48204800-48205000	Flanking Active TSS	GM12878-XiMat	blood
27	chr4:48204800-48206400	Enhancers	Primary B cells from cord blood	blood
28	chr4:48204800-48206600	Enhancers	Fetal Thymus	thymus
29	chr4:48205000-48205400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:48205000-48205400	Enhancers	GM12878-XiMat	blood
31	chr4:48205200-48205600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:48205200-48205600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48205400-48205600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:48205400-48205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:48205400-48206000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:48205400-48206200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:48205400-48206600	Flanking Active TSS	K562	blood
38	chr4:48205400-48207000	Enhancers	Left Ventricle	heart
39	chr4:48205400-48207400	Flanking Active TSS	GM12878-XiMat	blood
40	chr4:48205400-48207800	Enhancers	Fetal Heart	heart
41	chr4:48205600-48206600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:48205600-48206800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:48205600-48207200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:48205600-48208800	Enhancers	Fetal Brain Male	brain
45	chr4:48205800-48206000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:48205800-48206000	Enhancers	Right Ventricle	heart
47	chr4:48205800-48212600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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