Variant report

Variant	nsv600257
Chromosome Location	chr5:167672105-167702041
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:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

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

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

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

No data

Variant related genes	Relation type
ENSG00000113645	chromatin interactions
ENSG00000113643	chromatin interactions

Extended variants
information (count: 1283 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1960425	chr5:167672105-167672106	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79456217	chr5:167672133-167672134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551656415	chr5:167672138-167672139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571497350	chr5:167672153-167672154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370053827	chr5:167672201-167672202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2015892	chr5:167672223-167672224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187160040	chr5:167672254-167672255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144342916	chr5:167672255-167672256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574158393	chr5:167672276-167672277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148742143	chr5:167672277-167672278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556558976	chr5:167672313-167672314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576510154	chr5:167672322-167672323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571574803	chr5:167672323-167672324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545121159	chr5:167672382-167672383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112904826	chr5:167672440-167672441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565565737	chr5:167672442-167672443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532132970	chr5:167672476-167672477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550640180	chr5:167672504-167672505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572684021	chr5:167672515-167672516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541592930	chr5:167672518-167672519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561169796	chr5:167672546-167672547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528919811	chr5:167672549-167672550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548677376	chr5:167672550-167672551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562096476	chr5:167672553-167672554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148845439	chr5:167672574-167672575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72438819	chr5:167672578-167672579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11134496	chr5:167672579-167672580	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35630506	chr5:167672595-167672596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553914624	chr5:167672643-167672644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551128536	chr5:167672659-167672660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571500768	chr5:167672689-167672690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142091439	chr5:167672707-167672708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373625588	chr5:167672730-167672731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567480229	chr5:167672737-167672738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536700503	chr5:167672777-167672778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556693753	chr5:167672794-167672795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146296077	chr5:167672795-167672796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539007889	chr5:167672798-167672799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552140364	chr5:167672860-167672861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139554159	chr5:167672863-167672864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562114805	chr5:167672886-167672887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370591280	chr5:167672892-167672893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183891488	chr5:167672943-167672944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112673819	chr5:167673004-167673005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113340928	chr5:167673035-167673036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139622474	chr5:167673036-167673037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529669103	chr5:167673053-167673054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201839368	chr5:167673062-167673063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562235691	chr5:167673067-167673068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531337807	chr5:167673098-167673099	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:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167646200-167674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167646800-167674000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:167646800-167695800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:167647200-167673600	Weak transcription	Fetal Lung	lung
5	chr5:167656400-167674000	Weak transcription	HSMM	muscle
6	chr5:167658200-167673600	Weak transcription	Fetal Brain Male	brain
7	chr5:167661600-167688200	Weak transcription	HMEC	breast
8	chr5:167662200-167673800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:167663600-167673400	Weak transcription	NHEK	skin
10	chr5:167666000-167674000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:167666400-167682600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:167667200-167673800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:167667200-167679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:167667600-167673800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:167668000-167673800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:167668600-167679600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:167668800-167674000	Weak transcription	Fetal Brain Female	brain
18	chr5:167669600-167673800	Weak transcription	Right Ventricle	heart
19	chr5:167670000-167673000	Enhancers	GM12878-XiMat	blood
20	chr5:167671200-167673800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:167671400-167674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:167671600-167672400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:167671600-167673000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:167671800-167672800	Enhancers	Osteobl	bone
25	chr5:167672000-167672800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:167672000-167673000	Enhancers	Brain Anterior Caudate	brain
27	chr5:167672000-167673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:167672000-167673800	Weak transcription	Left Ventricle	heart
29	chr5:167672200-167672800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:167672200-167673800	Weak transcription	Brain Angular Gyrus	brain
31	chr5:167672200-167695800	Weak transcription	Fetal Heart	heart
32	chr5:167672400-167673400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:167672800-167675800	Weak transcription	Osteobl	bone
34	chr5:167673000-167676800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:167673000-167677600	Weak transcription	Liver	Liver
36	chr5:167673000-167678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:167673000-167695600	Weak transcription	Brain Anterior Caudate	brain
38	chr5:167673400-167676400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:167673400-167676600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:167673400-167677800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:167673400-167679200	Strong transcription	NHEK	skin
42	chr5:167673600-167674400	Strong transcription	Fetal Lung	lung
43	chr5:167673600-167674600	Strong transcription	Fetal Brain Male	brain
44	chr5:167673800-167674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:167673800-167674200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:167673800-167674800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:167673800-167675000	Strong transcription	Brain Angular Gyrus	brain
48	chr5:167673800-167675400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:167673800-167675600	Strong transcription	Brain Germinal Matrix	brain
50	chr5:167673800-167675600	Strong transcription	Left Ventricle	heart

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