Variant report

Variant	esv3436881
Chromosome Location	chr5:112921803-112924151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr5:112923850-112924093	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr5:112923767-112924206	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr5:112924016-112924210	K562	blood:	n/a	n/a
4	TAL1	chr5:112923875-112924045	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112919623..112922323-chr5:112924895..112926616,2	MCF-7	breast:
2	chr5:112917130..112919077-chr5:112922484..112924889,2	K562	blood:

Variant related genes	Relation type
YTHDC2	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550207932	chr5:112921830-112921831	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571633389	chr5:112921840-112921841	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576791670	chr5:112921862-112921863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541161056	chr5:112921949-112921950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553027142	chr5:112921982-112921983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539361043	chr5:112921993-112921994	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2900072	chr5:112922054-112922055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs566174215	chr5:112922083-112922084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536841362	chr5:112922122-112922123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554412230	chr5:112922147-112922148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199939983	chr5:112922158-112922159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542398329	chr5:112922177-112922178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2416319	chr5:112922214-112922215	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35364742	chr5:112922254-112922255	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576404227	chr5:112922262-112922263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540701278	chr5:112922291-112922292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57295502	chr5:112922295-112922296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559582992	chr5:112922310-112922311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35077609	chr5:112922316-112922317	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542004873	chr5:112922334-112922335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540525886	chr5:112922336-112922337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188141838	chr5:112922345-112922346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564107300	chr5:112922366-112922367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369498416	chr5:112922371-112922372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60202385	chr5:112922407-112922408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550269243	chr5:112922463-112922464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565306170	chr5:112922550-112922551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367950987	chr5:112922551-112922552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192028841	chr5:112922566-112922567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147747074	chr5:112922568-112922569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2972257	chr5:112922570-112922571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61040618	chr5:112922571-112922572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55803604	chr5:112922572-112922573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187603430	chr5:112922574-112922575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548386636	chr5:112922576-112922577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112458172	chr5:112922592-112922593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367875414	chr5:112922648-112922649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62373768	chr5:112922749-112922750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371597972	chr5:112922929-112922930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569883573	chr5:112923025-112923026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34005953	chr5:112923095-112923096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35150208	chr5:112923097-112923098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547822655	chr5:112923127-112923128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371855192	chr5:112923154-112923155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536773707	chr5:112923180-112923181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11960784	chr5:112923185-112923186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10080059	chr5:112923212-112923213	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs28842543	chr5:112923218-112923219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553039769	chr5:112923232-112923233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574680146	chr5:112923236-112923237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112899400-112929400	Weak transcription	HepG2	liver
6	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
7	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
14	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
16	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:112910800-112924400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112910800-112928400	Weak transcription	A549	lung
20	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
22	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
26	chr5:112910800-112934600	Weak transcription	Gastric	stomach
27	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
28	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
29	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
30	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:112911200-112925400	Weak transcription	Brain Germinal Matrix	brain
34	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:112914000-112922200	Strong transcription	Dnd41	blood
36	chr5:112915200-112922200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:112915200-112922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:112915200-112922200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:112916400-112926800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:112916400-112929200	Weak transcription	Lung	lung
42	chr5:112916400-112930400	Weak transcription	NHLF	lung
43	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
44	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
45	chr5:112916800-112928600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:112916800-112928600	Weak transcription	NH-A	brain
47	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
48	chr5:112917200-112926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:112917200-112926600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:112917200-112942000	Weak transcription	K562	blood

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