Variant report

Variant	nsv599528
Chromosome Location	chr5:117643335-117780062
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:4)
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	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
2	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
3	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
4	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
5	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
6	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
7	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
8	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
9	chr14:81686696..81687602-chr5:117664674..117665194,3	HCT-116	colon:
10	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
11	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-9	chr5:117646168-117646321	ucscGeneNc_uc003krz_2
2	lnc-DTWD2-3	chr5:117686661-117687202	NONHSAT103396
3	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610
4	lnc-DMXL1-9	chr5:117647307-117648354	ucscGeneNc_uc003krz_2

No data

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 2469 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2469 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62370320	chr5:117644419-117644420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536329553	chr5:117644436-117644437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184207792	chr5:117644441-117644442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138292311	chr5:117644444-117644445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200583601	chr5:117644446-117644447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547370998	chr5:117644463-117644464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572379572	chr5:117644473-117644474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116254378	chr5:117644489-117644490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561081260	chr5:117644490-117644491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530121249	chr5:117644518-117644519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543652550	chr5:117644566-117644567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72788066	chr5:117644574-117644575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72788067	chr5:117644578-117644579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114570808	chr5:117644648-117644649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149609521	chr5:117644675-117644676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188360788	chr5:117644676-117644677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546764112	chr5:117644696-117644697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72788069	chr5:117644710-117644711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573610680	chr5:117644746-117644747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190642091	chr5:117644807-117644808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182522726	chr5:117644854-117644855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557204071	chr5:117644868-117644869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187223550	chr5:117644916-117644917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191306176	chr5:117644935-117644936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184294825	chr5:117644936-117644937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573041185	chr5:117644954-117644955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369832325	chr5:117644999-117645000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541065009	chr5:117645058-117645059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554537718	chr5:117645073-117645074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574593083	chr5:117645081-117645082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543469016	chr5:117645140-117645141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148218507	chr5:117645144-117645145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142725256	chr5:117645160-117645161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536963414	chr5:117645210-117645211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147357296	chr5:117645241-117645242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560029257	chr5:117645285-117645286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6898040	chr5:117645310-117645311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs72788070	chr5:117645403-117645404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541065494	chr5:117645443-117645444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530639296	chr5:117645485-117645486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139417059	chr5:117645493-117645494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72788071	chr5:117645531-117645532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188039783	chr5:117645536-117645537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539656297	chr5:117645549-117645550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546471149	chr5:117645552-117645553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566473993	chr5:117645578-117645579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566464951	chr5:117645585-117645586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535316315	chr5:117645606-117645607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574632378	chr5:117645616-117645617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541901126	chr5:117645663-117645664	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117644400-117645200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:117644800-117645600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:117644800-117645800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:117644800-117645800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:117644800-117646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:117645000-117647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:117645200-117645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:117645200-117645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:117645600-117645800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:117645800-117647400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:117646000-117647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:117646400-117646800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:117646800-117647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:117647200-117647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:117647200-117647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:117647400-117647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:117647400-117649200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:117649200-117650000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:117650400-117650800	Enhancers	Fetal Lung	lung
20	chr5:117650400-117650800	Enhancers	Ovary	ovary
21	chr5:117660000-117666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:117661200-117662800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:117661200-117663000	Enhancers	NH-A	brain
24	chr5:117661400-117662400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:117661600-117662000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:117661600-117662400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:117661600-117662600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:117661800-117662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:117661800-117662400	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:117661800-117662600	Enhancers	Aorta	Aorta
31	chr5:117661800-117662800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:117662000-117662600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:117662000-117662800	Enhancers	Ovary	ovary
34	chr5:117662200-117662800	Enhancers	Osteobl	bone
35	chr5:117662400-117662800	Enhancers	NHDF-Ad	bronchial
36	chr5:117666000-117666200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:117672600-117673800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:117673200-117673600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:117678600-117678800	Bivalent Enhancer	Fetal Lung	lung
40	chr5:117682600-117683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:117686800-117687000	Enhancers	Ovary	ovary
42	chr5:117687000-117687200	ZNF genes & repeats	Aorta	Aorta
43	chr5:117687000-117690400	Weak transcription	Ovary	ovary
44	chr5:117688000-117688400	Enhancers	Fetal Lung	lung
45	chr5:117689000-117691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:117689200-117691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:117689200-117691800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:117689400-117690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:117689400-117691000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:117690200-117690800	Enhancers	Brain Cingulate Gyrus	brain

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