Variant report

Variant	nsv5117
Chromosome Location	chr5:167666701-167711857
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:167696124..167698304-chr5:167913449..167915110,2	MCF-7	breast:
2	chr5:167698241..167700910-chr5:167708360..167710392,2	MCF-7	breast:
3	chr5:167694757..167697092-chr5:167760205..167762595,2	MCF-7	breast:
4	chr5:167696717..167698605-chr5:167846824..167849075,2	MCF-7	breast:
5	chr17:59832671..59833488-chr5:167695013..167695578,2	MCF-7	breast:
6	chr5:167700118..167701888-chr5:167706220..167708102,2	K562	blood:
7	chr5:167696952..167697760-chr5:167717873..167718444,2	MCF-7	breast:
8	chr5:167688954..167689808-chr5:167743024..167744081,6	MCF-7	breast:
9	chr5:167693194..167695905-chr5:167709836..167712679,2	MCF-7	breast:
10	chr5:167707162..167711471-chr5:167712924..167716772,5	MCF-7	breast:
11	chr5:167696280..167696987-chr5:167849196..167849795,2	MCF-7	breast:
12	chr5:167700118..167701888-chr5:167706220..167708102,2	K562	blood:
13	chr5:167704230..167706545-chr5:167707615..167711292,3	MCF-7	breast:
14	chr5:167687788..167689812-chr5:167692711..167695181,2	MCF-7	breast:
15	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
16	chr5:167696432..167696965-chr5:167718465..167719213,2	MCF-7	breast:
17	chr5:167687788..167689812-chr5:167692711..167695181,2	MCF-7	breast:
18	chr5:167702796..167704910-chr5:167723958..167725780,2	MCF-7	breast:
19	chr5:167695446..167697955-chr5:167717142..167719890,3	MCF-7	breast:
20	chr5:167704230..167706545-chr5:167707615..167711292,3	MCF-7	breast:
21	chr5:167699475..167702223-chr5:167717111..167718768,2	MCF-7	breast:
22	chr5:167711313..167714278-chr5:167844839..167847304,2	MCF-7	breast:
23	chr5:167693194..167695905-chr5:167709836..167712679,2	MCF-7	breast:
24	chr5:167691821..167693684-chr5:167841382..167843813,2	K562	blood:
25	chr5:167696133..167697030-chr5:167737887..167738622,2	K562	blood:
26	chr5:167698241..167700910-chr5:167708360..167710392,2	MCF-7	breast:
27	chr5:167695818..167698583-chr5:167740233..167742676,2	MCF-7	breast:
28	chr5:167696093..167697010-chr5:167849229..167850337,8	MCF-7	breast:
29	chr1:222361158..222361756-chr5:167684109..167684858,2	MCF-7	breast:
30	chr5:167692911..167698949-chr5:167714034..167720280,9	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PANK3-1	chr5:167700929-167701025	XLOC_005075
2	lnc-PANK3-1	chr5:167704277-167704729	XLOC_005075

No data

Variant related genes	Relation type
ENSG00000113643	chromatin interactions
ENSG00000113645	chromatin interactions

Extended variants
information (count: 1898 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1898 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55972503	chr5:167666736-167666737	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10079495	chr5:167666757-167666758	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185193384	chr5:167666781-167666782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189902113	chr5:167666804-167666805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572493260	chr5:167666823-167666824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535007856	chr5:167666828-167666829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72835075	chr5:167666858-167666859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371229337	chr5:167666868-167666869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555442051	chr5:167666941-167666942	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575053915	chr5:167666945-167666946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543726777	chr5:167666958-167666959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563504507	chr5:167667025-167667026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536854342	chr5:167667051-167667052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544655391	chr5:167667052-167667053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574782911	chr5:167667060-167667061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564985648	chr5:167667097-167667098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149236842	chr5:167667124-167667125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113815636	chr5:167667210-167667211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560746182	chr5:167667211-167667212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79033334	chr5:167667212-167667213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529982294	chr5:167667249-167667250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71603853	chr5:167667250-167667251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139304602	chr5:167667253-167667254	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532344453	chr5:167667283-167667284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74387103	chr5:167667284-167667285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183322763	chr5:167667285-167667286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143356155	chr5:167667316-167667317	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376774866	chr5:167667447-167667448	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147509169	chr5:167667490-167667491	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554921233	chr5:167667494-167667495	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368120055	chr5:167667518-167667519	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372187519	chr5:167667535-167667536	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534610156	chr5:167667622-167667623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199786987	chr5:167667649-167667650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199691214	chr5:167667651-167667652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201657321	chr5:167667654-167667655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568374767	chr5:167667662-167667663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577649915	chr5:167667676-167667677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537304537	chr5:167667687-167667688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3832364	chr5:167667725-167667726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78363072	chr5:167667733-167667734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397840726	chr5:167667734-167667735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577163074	chr5:167667778-167667779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148569260	chr5:167667781-167667782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572177393	chr5:167667828-167667829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564712131	chr5:167667869-167667870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113585656	chr5:167667873-167667874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186531816	chr5:167667939-167667940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191576187	chr5:167667943-167667944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529719176	chr5:167667957-167667958	Weak transcription Strong transcription	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:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167646200-167674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167646800-167672000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:167646800-167674000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:167647200-167673600	Weak transcription	Fetal Lung	lung
6	chr5:167655600-167669000	Weak transcription	Right Ventricle	heart
7	chr5:167656400-167674000	Weak transcription	HSMM	muscle
8	chr5:167658200-167673600	Weak transcription	Fetal Brain Male	brain
9	chr5:167660400-167668800	Weak transcription	Left Ventricle	heart
10	chr5:167660400-167671400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:167660800-167668600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167661600-167688200	Weak transcription	HMEC	breast
13	chr5:167662200-167673800	Weak transcription	Brain Germinal Matrix	brain
14	chr5:167662800-167666800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:167663600-167673400	Weak transcription	NHEK	skin
16	chr5:167665600-167667600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:167665800-167667200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:167666000-167674000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:167666400-167667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:167666400-167682600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:167666600-167667600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:167666800-167667800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:167666800-167668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:167667200-167667600	Enhancers	GM12878-XiMat	blood
25	chr5:167667200-167673800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:167667200-167679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:167667400-167667600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr5:167667400-167667800	Enhancers	Osteobl	bone
29	chr5:167667600-167668800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:167667600-167669000	Weak transcription	GM12878-XiMat	blood
31	chr5:167667600-167673800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:167667800-167671800	Weak transcription	Osteobl	bone
33	chr5:167668000-167673800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:167668600-167669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:167668600-167679600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:167668800-167669600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:167668800-167669600	Strong transcription	Left Ventricle	heart
38	chr5:167668800-167674000	Weak transcription	Fetal Brain Female	brain
39	chr5:167669000-167669600	Strong transcription	Right Ventricle	heart
40	chr5:167669000-167669600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr5:167669600-167670000	Weak transcription	GM12878-XiMat	blood
42	chr5:167669600-167671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:167669600-167671200	Weak transcription	Left Ventricle	heart
44	chr5:167669600-167671600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:167669600-167673800	Weak transcription	Right Ventricle	heart
46	chr5:167670000-167673000	Enhancers	GM12878-XiMat	blood
47	chr5:167671200-167672000	Strong transcription	Left Ventricle	heart
48	chr5:167671200-167673800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:167671400-167672000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:167671400-167674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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