Variant report

Variant	nsv881368
Chromosome Location	chr5:28489902-28604170
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:5)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:28374945..28377602-chr5:28528241..28531132,2	MCF-7	breast:
2	chr5:28473713..28474256-chr5:28575899..28576440,2	MCF-7	breast:
3	chr5:28344853..28345525-chr5:28576087..28576818,2	MCF-7	breast:
4	chr5:28344802..28345403-chr5:28575923..28576762,2	MCF-7	breast:
5	chr5:28556590..28559536-chr7:6098281..6100048,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-17	chr5:28603723-28604954	NONHSAT100817
2	lnc-CDH6-18	chr5:28524293-28524641	FPKM1_group_25126_transcript_1
3	lnc-CDH6-18	chr5:28602704-28602704	FPKM1_group_25126_transcript_1
4	lnc-CDH6-18	chr5:28602704-28602803	NONHSAT100815
5	lnc-CDH6-18	chr5:28524293-28524641	NONHSAT100815

No data

Variant related genes	Relation type
ENSG00000086232	chromatin interactions

Extended variants
information (count: 972 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10062215	chr5:28489902-28489903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139774755	chr5:28489926-28489927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527699558	chr5:28489938-28489939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532229606	chr5:28495828-28495829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10940731	chr5:28495829-28495830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568768516	chr5:28495841-28495842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34301231	chr5:28495847-28495848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534447913	chr5:28495863-28495864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565343943	chr5:28495881-28495882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567922690	chr5:28495946-28495947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535809445	chr5:28495962-28495963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372561660	chr5:28496015-28496016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537039551	chr5:28496054-28496055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548097753	chr5:28496071-28496072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4560558	chr5:28496086-28496087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369933363	chr5:28496121-28496122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536885800	chr5:28496143-28496144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191718635	chr5:28496159-28496160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184020802	chr5:28496160-28496161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539128209	chr5:28496166-28496167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372628577	chr5:28496206-28496207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375018216	chr5:28496258-28496259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143191372	chr5:28496271-28496272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554268875	chr5:28496285-28496286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572489939	chr5:28496357-28496358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543015260	chr5:28496389-28496390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561595740	chr5:28496514-28496515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576664474	chr5:28496526-28496527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76369554	chr5:28496528-28496529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565477930	chr5:28496534-28496535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553123247	chr5:28496541-28496542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532554660	chr5:28496555-28496556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148264534	chr5:28496587-28496588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117064586	chr5:28496588-28496589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529665508	chr5:28496589-28496590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368844258	chr5:28496597-28496598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547770491	chr5:28496605-28496606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572718398	chr5:28496632-28496633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7722886	chr5:28496657-28496658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7702820	chr5:28496666-28496667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187248457	chr5:28496694-28496695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552142600	chr5:28496704-28496705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11742204	chr5:28496787-28496788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191234488	chr5:28496801-28496802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558351052	chr5:28496807-28496808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576000237	chr5:28496813-28496814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536686187	chr5:28496848-28496849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184512490	chr5:28496877-28496878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76546165	chr5:28496884-28496885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554999430	chr5:28496918-28496919	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28488600-28490000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr5:28495800-28496200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:28496200-28496600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:28496200-28496800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:28496400-28497200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:28496400-28497600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:28496800-28497200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:28496800-28497200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:28500000-28500800	Enhancers	NH-A	brain
10	chr5:28505000-28505600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:28505200-28506000	Enhancers	Hela-S3	cervix
12	chr5:28505400-28506200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:28506200-28506400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:28512600-28513400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:28512800-28513000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:28513000-28513200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:28513000-28513800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:28513400-28513800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:28513800-28514000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:28513800-28516600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:28514000-28517400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:28516200-28517800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:28516600-28517400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:28516800-28517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:28516800-28517400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:28516800-28518000	Enhancers	NH-A	brain
27	chr5:28517000-28517400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:28517200-28517800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:28517200-28518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:28517400-28518000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:28517400-28523800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:28517600-28518200	Enhancers	Hela-S3	cervix
33	chr5:28517800-28518200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:28517800-28518200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:28518200-28523000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:28518200-28523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:28523000-28523400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:28523400-28523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:28523600-28524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:28523600-28525000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:28523600-28525400	Enhancers	NH-A	brain
42	chr5:28523800-28524600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:28523800-28524600	Enhancers	Fetal Kidney	kidney
44	chr5:28523800-28524800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:28523800-28524800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:28523800-28525000	Enhancers	HUVEC	blood vessel
47	chr5:28524000-28524200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:28524000-28524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:28524000-28524600	Enhancers	Hela-S3	cervix
50	chr5:28524000-28525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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