Variant report

Variant	esv3395434
Chromosome Location	chr5:167655124-167657122
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	chr5:167649331..167651184-chr5:167653596..167655823,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PANK3-2	chr5:167656588-167656865	NR_109894
2	lnc-PANK3-2	chr5:167656663-167656865	NONHSAT104984
3	lnc-PANK3-2	chr5:167656660-167656865	NONHSAT104983
4	lnc-PANK3-2	chr5:167656588-167656865	ENSG00000253978.1

Extended variants
information (count: 102 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548549914	chr5:167655125-167655126	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371129608	chr5:167655183-167655184	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374122866	chr5:167655184-167655185	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201069167	chr5:167655210-167655211	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554860038	chr5:167655211-167655212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574897804	chr5:167655233-167655234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59799353	chr5:167655269-167655270	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533941144	chr5:167655294-167655295	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543768358	chr5:167655299-167655300	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185830280	chr5:167655316-167655317	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556058538	chr5:167655339-167655340	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188199614	chr5:167655359-167655360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546118065	chr5:167655373-167655374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181057584	chr5:167655439-167655440	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528614006	chr5:167655440-167655441	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375521087	chr5:167655538-167655539	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143997698	chr5:167655539-167655540	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554743204	chr5:167655589-167655590	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372737574	chr5:167655596-167655597	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529678915	chr5:167655601-167655602	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs145472002	chr5:167655605-167655606	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372626538	chr5:167655606-167655607	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10672019	chr5:167655611-167655612	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549728082	chr5:167655622-167655623	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs202225085	chr5:167655685-167655686	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577403354	chr5:167655708-167655709	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569685709	chr5:167655725-167655726	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532225279	chr5:167655751-167655752	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552448982	chr5:167655793-167655794	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10067509	chr5:167655796-167655797	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531483781	chr5:167655823-167655824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62383459	chr5:167655840-167655841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534771609	chr5:167655845-167655846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563191411	chr5:167655870-167655871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12658432	chr5:167655872-167655873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568319389	chr5:167655915-167655916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537080961	chr5:167655917-167655918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36206567	chr5:167655925-167655926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191816588	chr5:167655941-167655942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577310890	chr5:167655971-167655972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10059616	chr5:167655982-167655983	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373750728	chr5:167655991-167655992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570083784	chr5:167656022-167656023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72835067	chr5:167656151-167656152	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573115254	chr5:167656156-167656157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148587277	chr5:167656162-167656163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562071906	chr5:167656173-167656174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34848000	chr5:167656207-167656208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11275788	chr5:167656213-167656214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs67189616	chr5:167656214-167656215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Epilepsy	20502679	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
2	chr5:167646200-167661200	Weak transcription	HMEC	breast
3	chr5:167646200-167674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167646600-167664600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:167646800-167658200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:167646800-167672000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:167646800-167674000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:167647000-167657000	Weak transcription	Fetal Brain Male	brain
10	chr5:167647000-167661200	Strong transcription	NHEK	skin
11	chr5:167647200-167655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:167647200-167673600	Weak transcription	Fetal Lung	lung
13	chr5:167648600-167660600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:167649800-167655600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:167649800-167660800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:167650800-167658800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:167651800-167659400	Weak transcription	HSMMtube	muscle
18	chr5:167651800-167661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:167652000-167655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:167652200-167656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:167652200-167656600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:167653000-167655600	Genic enhancers	Right Ventricle	heart
23	chr5:167653000-167655800	Genic enhancers	Left Ventricle	heart
24	chr5:167653600-167656400	Strong transcription	HSMM	muscle
25	chr5:167653600-167656600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:167654000-167655200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:167654000-167655200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:167654000-167655600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:167654000-167655800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:167654000-167655800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:167654200-167655200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:167654200-167655200	Enhancers	Spleen	Spleen
33	chr5:167654200-167661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:167654400-167658000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:167654600-167655200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:167654600-167655800	Enhancers	Right Atrium	heart
37	chr5:167654600-167656400	Enhancers	HUVEC	blood vessel
38	chr5:167654800-167655200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr5:167654800-167655200	Enhancers	Fetal Thymus	thymus
40	chr5:167654800-167655400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:167654800-167655600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:167654800-167655600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:167654800-167655600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:167654800-167655800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:167654800-167655800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:167654800-167655800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:167654800-167655800	Flanking Active TSS	GM12878-XiMat	blood
48	chr5:167655000-167655200	Enhancers	Placenta	Placenta
49	chr5:167655000-167655200	Enhancers	Lung	lung
50	chr5:167655000-167655400	Flanking Active TSS	Primary T cells from cord blood	blood

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