Variant report

Variant	esv1797335
Chromosome Location	chr5:106981612-107004761
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:106993178..106995868-chr5:107006750..107009458,3	MCF-7	breast:
2	chr5:107000146..107001878-chr5:107002234..107005030,2	K562	blood:
3	chr5:107002898..107004805-chr5:107006650..107008856,2	MCF-7	breast:
4	chr5:107003897..107004498-chr5:107016319..107016851,2	MCF-7	breast:
5	chr5:107000146..107001878-chr5:107002234..107005030,2	K562	blood:
6	chr5:106971694..106973917-chr5:106984719..106987685,2	MCF-7	breast:
7	chr5:106905731..106907400-chr5:106990438..106992005,2	MCF-7	breast:
8	chr5:106907249..106908833-chr5:107002242..107004376,2	MCF-7	breast:
9	chr5:106992909..106994518-chr5:106998061..107000101,2	MCF-7	breast:
10	chr5:106992909..106994518-chr5:106998061..107000101,2	MCF-7	breast:
11	chr5:106993835..106994335-chr8:80679829..80680715,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000164683	chromatin interactions
ENSG00000272138	chromatin interactions

Extended variants
information (count: 778 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71575450	chr5:106981618-106981619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368017455	chr5:106981625-106981626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146262338	chr5:106981698-106981699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113834386	chr5:106981743-106981744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535084108	chr5:106981788-106981789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191700940	chr5:106981809-106981810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556967530	chr5:106981832-106981833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540395753	chr5:106981855-106981856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548037633	chr5:106981859-106981860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567936710	chr5:106981860-106981861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183368176	chr5:106981901-106981902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551515059	chr5:106981913-106981914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139394527	chr5:106981921-106981922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544283982	chr5:106981943-106981944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551308152	chr5:106982039-106982040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73781152	chr5:106982045-106982046	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575425353	chr5:106982072-106982073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536470515	chr5:106982079-106982080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545874500	chr5:106982168-106982169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566479956	chr5:106982197-106982198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374708088	chr5:106982205-106982206	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558177126	chr5:106982226-106982227	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574902977	chr5:106982254-106982255	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189242105	chr5:106982255-106982256	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554464125	chr5:106982258-106982259	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536991308	chr5:106982296-106982297	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191930194	chr5:106982345-106982346	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560681595	chr5:106982438-106982439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10074258	chr5:106982560-106982561	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
30	rs560271368	chr5:106982580-106982581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372626537	chr5:106982649-106982650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528621983	chr5:106982662-106982663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375572073	chr5:106982679-106982680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1423214	chr5:106982721-106982722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565340832	chr5:106982778-106982779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530933992	chr5:106982792-106982793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550968293	chr5:106982870-106982871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561585343	chr5:106982938-106982939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144111586	chr5:106982972-106982973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182331129	chr5:106983009-106983010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567052063	chr5:106983059-106983060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114323915	chr5:106983067-106983068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551858175	chr5:106983087-106983088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186600040	chr5:106983101-106983102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539073338	chr5:106983150-106983151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146485057	chr5:106983152-106983153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558803307	chr5:106983236-106983237	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537462607	chr5:106983248-106983249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376917018	chr5:106983291-106983292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191844700	chr5:106983317-106983318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106969600-106988600	Weak transcription	Fetal Stomach	stomach
2	chr5:106970200-106985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:106972200-106986000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:106972600-106981800	Weak transcription	HMEC	breast
5	chr5:106972800-106983400	Weak transcription	Fetal Lung	lung
6	chr5:106973400-106982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:106976600-106981800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:106976600-106984600	Weak transcription	A549	lung
9	chr5:106976600-106987200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:106976600-106991600	Weak transcription	Left Ventricle	heart
11	chr5:106979200-106985800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:106979400-106985600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:106979400-106988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:106980800-106982000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:106981200-106982400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:106981200-106983800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:106981600-106982200	Weak transcription	Fetal Heart	heart
18	chr5:106981600-106982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:106981600-106984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:106981800-106982000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:106981800-106982000	Enhancers	HMEC	breast
22	chr5:106981800-106982600	Enhancers	NHEK	skin
23	chr5:106981800-106985800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:106982000-106982400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:106982000-106982600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:106982000-106983400	Weak transcription	HMEC	breast
27	chr5:106982200-106982400	Enhancers	Fetal Heart	heart
28	chr5:106982200-106982400	Active TSS	Stomach Mucosa	stomach
29	chr5:106982200-106982600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:106982400-106983200	Weak transcription	Fetal Heart	heart
31	chr5:106982400-106983400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:106982400-106985800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:106982400-106989000	Weak transcription	Stomach Mucosa	stomach
34	chr5:106982400-106990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:106982600-106983200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:106982600-106983400	Weak transcription	NHEK	skin
37	chr5:106983200-106984800	Enhancers	Fetal Heart	heart
38	chr5:106983200-106985200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:106983400-106983600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:106983400-106983600	Enhancers	HMEC	breast
41	chr5:106983400-106983600	Enhancers	NHEK	skin
42	chr5:106983400-106984000	Enhancers	GM12878-XiMat	blood
43	chr5:106983400-106984600	Enhancers	Fetal Lung	lung
44	chr5:106983600-106983800	Weak transcription	NHEK	skin
45	chr5:106983600-106985400	Weak transcription	HMEC	breast
46	chr5:106983600-106990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:106983800-106989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:106984400-106991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:106984600-106985000	Enhancers	A549	lung
50	chr5:106984600-106988000	Weak transcription	Fetal Lung	lung

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