Variant report

Variant	esv3470359
Chromosome Location	chr5:16998712-17012413
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
2	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
3	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
4	chr5:17004434..17006256-chr5:17007845..17010404,2	K562	blood:
5	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:
6	chr5:16935331..16937898-chr5:17010889..17014144,4	MCF-7	breast:
7	chr5:17005526..17008394-chr5:17011075..17012616,2	MCF-7	breast:
8	chr5:16995098..16996958-chr5:17000346..17002199,2	MCF-7	breast:
9	chr5:16999937..17003903-chr5:17005517..17010107,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 609 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371530023	chr5:16998723-16998724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7727270	chr5:16998729-16998730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572373519	chr5:16998751-16998752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545853842	chr5:16998755-16998756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564438229	chr5:16998764-16998765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576244672	chr5:16998766-16998767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543686546	chr5:16998810-16998811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11959127	chr5:16998843-16998844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570600783	chr5:16998852-16998853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200503181	chr5:16998899-16998900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59805910	chr5:16998906-16998907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184179334	chr5:16998931-16998932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11949513	chr5:16998947-16998948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140459212	chr5:16998949-16998950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35525756	chr5:16999025-16999026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551073780	chr5:16999031-16999032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115731053	chr5:16999059-16999060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190575040	chr5:16999083-16999084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535709167	chr5:16999094-16999095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549968312	chr5:16999131-16999132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13180256	chr5:16999134-16999135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535571425	chr5:16999167-16999168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116667892	chr5:16999172-16999173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566024220	chr5:16999173-16999174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373374134	chr5:16999186-16999187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539859543	chr5:16999190-16999191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375124164	chr5:16999233-16999234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557860911	chr5:16999284-16999285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139086019	chr5:16999294-16999295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116041796	chr5:16999295-16999296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201933825	chr5:16999304-16999305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368998881	chr5:16999340-16999341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555616268	chr5:16999341-16999342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544369627	chr5:16999343-16999344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182362592	chr5:16999373-16999374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541206613	chr5:16999374-16999375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559432785	chr5:16999432-16999433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13184434	chr5:16999447-16999448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532878030	chr5:16999463-16999464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186096059	chr5:16999473-16999474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563092504	chr5:16999480-16999481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7732353	chr5:16999481-16999482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs137936237	chr5:16999489-16999490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113359239	chr5:16999548-16999549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62369738	chr5:16999551-16999552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62369739	chr5:16999554-16999555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189375273	chr5:16999575-16999576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373442582	chr5:16999577-16999578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566209488	chr5:16999580-16999581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539499171	chr5:16999585-16999586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16995000-16998800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:16995200-16999800	Weak transcription	NHLF	lung
3	chr5:16995200-17000400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:16995400-16999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:16995400-17007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:16995600-17000600	Weak transcription	HMEC	breast
7	chr5:16995600-17000600	Weak transcription	NHDF-Ad	bronchial
8	chr5:16995800-17000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:16995800-17000200	Weak transcription	Osteobl	bone
10	chr5:16995800-17000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:16995800-17000800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:16995800-17000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:16995800-17000800	Weak transcription	HSMM	muscle
14	chr5:16996000-16999600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:16996000-16999600	Weak transcription	A549	lung
16	chr5:16996000-16999800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:16996000-17000000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:16996000-17000200	Weak transcription	HSMMtube	muscle
19	chr5:16996000-17000400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:16996000-17000600	Weak transcription	NH-A	brain
21	chr5:16996600-17000000	Weak transcription	HUVEC	blood vessel
22	chr5:16998200-16998800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:16998600-16999600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:16998800-16999600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:16998800-17001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:16999600-16999800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:16999600-17000400	Enhancers	A549	lung
28	chr5:16999600-17000600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:16999600-17006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:16999800-17000200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:16999800-17000600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:16999800-17001800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:16999800-17002200	Enhancers	NHLF	lung
34	chr5:17000000-17000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:17000000-17001200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:17000000-17001400	Enhancers	HUVEC	blood vessel
37	chr5:17000000-17001400	Enhancers	NHEK	skin
38	chr5:17000000-17001600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:17000200-17000600	Enhancers	Osteobl	bone
40	chr5:17000200-17000800	Enhancers	HSMMtube	muscle
41	chr5:17000200-17001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:17000200-17001800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:17000400-17000800	Flanking Active TSS	A549	lung
44	chr5:17000400-17001000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:17000400-17001000	Enhancers	Hela-S3	cervix
46	chr5:17000400-17001200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:17000400-17001200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:17000600-17001000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:17000600-17001000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:17000600-17001000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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