Variant report

Variant	esv3464784
Chromosome Location	chr4:15613969-15626901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15621417..15624141-chr4:15629634..15631169,2	K562	blood:
2	chr4:15596594..15598357-chr4:15612896..15614990,2	K562	blood:
3	chr4:15626638..15628672-chr4:15655533..15657552,3	MCF-7	breast:
4	chr4:15607476..15609952-chr4:15624488..15626808,2	K562	blood:

Variant related genes	Relation type
ENSG00000048342	chromatin interactions
ENSG00000118564	chromatin interactions

Extended variants
information (count: 570 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556476870	chr4:15614040-15614041	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs200326825	chr4:15614059-15614060	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199556631	chr4:15614067-15614068	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201402786	chr4:15614085-15614086	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191263087	chr4:15614136-15614137	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73239175	chr4:15614179-15614180	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373232769	chr4:15614202-15614203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547599231	chr4:15614234-15614235	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567434796	chr4:15614235-15614236	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536081870	chr4:15614248-15614249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555787924	chr4:15614267-15614268	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569263194	chr4:15614286-15614287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544195682	chr4:15614294-15614295	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75867259	chr4:15614320-15614321	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557775646	chr4:15614358-15614359	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577893799	chr4:15614369-15614370	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140249819	chr4:15614409-15614410	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570612087	chr4:15614411-15614412	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554059278	chr4:15614475-15614476	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574149375	chr4:15614523-15614524	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542855042	chr4:15614580-15614581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563983010	chr4:15614651-15614652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183781335	chr4:15614732-15614733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374842689	chr4:15614784-15614785	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531353208	chr4:15614794-15614795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368223647	chr4:15614817-15614818	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544969101	chr4:15614839-15614840	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537186185	chr4:15614843-15614844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369293201	chr4:15614870-15614871	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150303581	chr4:15614883-15614884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564908033	chr4:15614941-15614942	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527299791	chr4:15614970-15614971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138927788	chr4:15615030-15615031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533061786	chr4:15615047-15615048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567571987	chr4:15615071-15615072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114591102	chr4:15615074-15615075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560366204	chr4:15615109-15615110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549752212	chr4:15615141-15615142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189640794	chr4:15615225-15615226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376818825	chr4:15615230-15615231	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567081525	chr4:15615265-15615266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36021865	chr4:15615272-15615273	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112077684	chr4:15615295-15615296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182039580	chr4:15615311-15615312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34162330	chr4:15615344-15615345	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11930259	chr4:15615346-15615347	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569219195	chr4:15615371-15615372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369198582	chr4:15615374-15615375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533953481	chr4:15615393-15615394	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569180283	chr4:15615439-15615440	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
4	chr4:15568400-15655600	Weak transcription	Gastric	stomach
5	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:15590000-15615600	Weak transcription	Lung	lung
8	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
11	chr4:15595400-15614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:15596600-15616400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:15600600-15620800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
16	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
17	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:15602200-15621200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:15602400-15615600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:15602600-15615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
22	chr4:15603000-15624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:15603800-15626800	Weak transcription	NHLF	lung
24	chr4:15604200-15617800	Weak transcription	Spleen	Spleen
25	chr4:15604600-15615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:15604600-15615600	Weak transcription	Aorta	Aorta
27	chr4:15604600-15615600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:15604600-15615600	Weak transcription	Fetal Stomach	stomach
29	chr4:15604800-15615600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:15604800-15615600	Weak transcription	Ovary	ovary
31	chr4:15604800-15617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:15605200-15615600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:15605400-15615600	Weak transcription	Fetal Brain Female	brain
34	chr4:15605400-15615600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:15605400-15625800	Weak transcription	HMEC	breast
36	chr4:15605600-15620400	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:15605600-15624400	Weak transcription	K562	blood
38	chr4:15605800-15615600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:15605800-15618400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:15605800-15621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
42	chr4:15606000-15615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:15606000-15621600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:15606200-15615600	Weak transcription	Brain Germinal Matrix	brain
46	chr4:15606400-15615600	Weak transcription	Left Ventricle	heart
47	chr4:15606400-15618000	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:15606800-15620600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:15607000-15615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:15607000-15620800	Weak transcription	A549	lung

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