Variant report

Variant	esv3464793
Chromosome Location	chr4:15629593-15632316
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	chr4:15621417..15624141-chr4:15629634..15631169,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377059346	chr4:15629596-15629597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370044143	chr4:15629600-15629601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533287883	chr4:15629606-15629607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34792289	chr4:15629643-15629644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41267467	chr4:15629673-15629674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201940128	chr4:15629679-15629680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140479016	chr4:15629719-15629720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536913718	chr4:15629761-15629762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562445555	chr4:15629762-15629763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556860252	chr4:15629798-15629799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4698402	chr4:15629803-15629804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539295378	chr4:15629811-15629812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4698403	chr4:15629827-15629828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7686977	chr4:15629861-15629862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78329910	chr4:15629898-15629899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7662927	chr4:15629908-15629909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541420470	chr4:15629910-15629911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183174279	chr4:15629918-15629919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141108536	chr4:15629938-15629939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115582530	chr4:15629983-15629984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544081053	chr4:15630027-15630028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563834321	chr4:15630037-15630038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370370670	chr4:15630053-15630054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185546970	chr4:15630140-15630141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546128394	chr4:15630151-15630152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189572187	chr4:15630157-15630158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143663548	chr4:15630185-15630186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7663570	chr4:15630195-15630196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547897755	chr4:15630220-15630221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567690778	chr4:15630223-15630224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530429663	chr4:15630231-15630232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7687774	chr4:15630267-15630268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550812752	chr4:15630303-15630304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114759189	chr4:15630306-15630307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539597106	chr4:15630316-15630317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546662889	chr4:15630319-15630320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552925678	chr4:15630360-15630361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371927577	chr4:15630395-15630396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67228055	chr4:15630396-15630397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10682962	chr4:15630408-15630409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34917277	chr4:15630409-15630410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59913889	chr4:15630410-15630411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10676010	chr4:15630411-15630412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62290589	chr4:15630412-15630413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs201169181	chr4:15630418-15630419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73241109	chr4:15630428-15630429	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562116431	chr4:15630432-15630433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376571703	chr4:15630474-15630475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7693111	chr4:15630530-15630531	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7693263	chr4:15630559-15630560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:15613400-15635000	Weak transcription	HSMMtube	muscle
8	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
9	chr4:15621000-15632600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:15622400-15638000	Weak transcription	HepG2	liver
12	chr4:15622400-15639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
14	chr4:15622800-15635200	Weak transcription	Fetal Stomach	stomach
15	chr4:15623400-15638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:15623800-15633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:15624400-15629600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:15624400-15629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:15624600-15630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:15624800-15632800	Strong transcription	Dnd41	blood
24	chr4:15625200-15632600	Strong transcription	HSMM	muscle
25	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:15625400-15632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:15625600-15629600	Strong transcription	GM12878-XiMat	blood
30	chr4:15625600-15629800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:15625600-15630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:15625600-15632400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:15625800-15629600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr4:15625800-15629600	Strong transcription	NH-A	brain
35	chr4:15625800-15629800	Strong transcription	Fetal Thymus	thymus
36	chr4:15625800-15632400	Strong transcription	Liver	Liver
37	chr4:15625800-15632400	Strong transcription	NHDF-Ad	bronchial
38	chr4:15625800-15632600	Strong transcription	Osteobl	bone
39	chr4:15625800-15632800	Strong transcription	Primary B cells from cord blood	blood
40	chr4:15625800-15632800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:15626000-15629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:15626000-15629600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:15626000-15630000	Strong transcription	NHEK	skin
49	chr4:15626000-15630200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr4:15626000-15630800	Strong transcription	Primary T cells fromperipheralblood	blood

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