Variant report

Variant	nsv1028717
Chromosome Location	chr5:4954566-4993583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:4959345-4959707	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:4975294-4975616	HepG2	liver:	n/a	chr5:4975455-4975468 chr5:4975455-4975466
3	CEBPB	chr5:4964197-4964534	HepG2	liver:	n/a	chr5:4964357-4964368
4	CEBPB	chr5:4987798-4988222	K562	blood:	n/a	chr5:4988140-4988151
5	CEBPB	chr5:4964210-4964540	IMR90	lung:	n/a	chr5:4964357-4964368
6	CEBPB	chr5:4964256-4964456	H1-hESC	embryonic stem cell:	n/a	chr5:4964357-4964368
7	CEBPB	chr5:4988071-4988204	A549	lung:	n/a	chr5:4988140-4988151
8	CEBPB	chr5:4987976-4988319	HepG2	liver:	n/a	chr5:4988140-4988151
9	CEBPB	chr5:4964187-4964487	A549	lung:	n/a	chr5:4964357-4964368
10	CEBPB	chr5:4975425-4975608	K562	blood:	n/a	chr5:4975455-4975468 chr5:4975455-4975466
11	CEBPB	chr5:4964179-4964507	K562	blood:	n/a	chr5:4964357-4964368
12	CTCF	chr5:4982399-4982443	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:4979756-4979781	GM13976	blood:	n/a	n/a
14	CTCF	chr5:4979918-4979976	GM13976	blood:	n/a	n/a
15	CTCF	chr5:4956891-4956937	Fibrobl	skin:	n/a	n/a
16	CTCF	chr5:4987940-4988090	Caco-2	colon:	n/a	n/a
17	CTCF	chr5:4973200-4973350	WERI-Rb-1	eye:	n/a	n/a
18	EP300	chr5:4963637-4964002	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr5:4963745-4963962	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr5:4954047-4954902	SK-N-SH	brain:	n/a	n/a
21	EP300	chr5:4954315-4954581	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr5:4962987-4964180	SK-N-SH	brain:	n/a	n/a
23	FOS	chr5:4978010-4978209	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:4978009-4978171	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:4989312-4989711	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:4989133-4989466	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr5:4989469-4989808	HepG2	liver:	n/a	n/a
28	FOXA2	chr5:4989454-4989627	HepG2	liver:	n/a	n/a
29	GATA2	chr5:4954257-4955110	SH-SY5Y	brain:	n/a	chr5:4954728-4954735 chr5:4954460-4954469 chr5:4954457-4954473 chr5:4954880-4954893
30	GATA2	chr5:4991986-4992384	SH-SY5Y	brain:	n/a	n/a
31	GATA2	chr5:4963359-4963898	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr5:4963320-4963898	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr5:4970484-4970684	SH-SY5Y	brain:	n/a	chr5:4970568-4970575 chr5:4970561-4970577
34	GATA3	chr5:4954390-4955094	SH-SY5Y	brain:	n/a	chr5:4954728-4954735 chr5:4954460-4954469 chr5:4954457-4954473 chr5:4954880-4954893
35	GATA3	chr5:4963036-4964374	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr5:4963340-4964020	SK-N-SH	brain:	n/a	n/a
37	JUND	chr5:4979301-4979531	HepG2	liver:	n/a	n/a
38	JUND	chr5:4959403-4959411	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFF	chr5:4961373-4961669	HepG2	liver:	n/a	n/a
40	MAFF	chr5:4956607-4956888	HepG2	liver:	n/a	chr5:4956816-4956830
41	MAFF	chr5:4989357-4989655	HepG2	liver:	n/a	n/a
42	MAFK	chr5:4956504-4956978	HepG2	liver:	n/a	chr5:4956813-4956833 chr5:4956615-4956626 chr5:4956822-4956833 chr5:4956817-4956826 chr5:4956816-4956830 chr5:4956818-4956833 chr5:4956815-4956831 chr5:4956821-4956835 chr5:4956615-4956631 chr5:4956820-4956829 chr5:4956615-4956626 chr5:4956817-4956827
43	MAFK	chr5:4989324-4989644	HepG2	liver:	n/a	n/a
44	MAFK	chr5:4956733-4956794	IMR90	lung:	n/a	n/a
45	MAFK	chr5:4956637-4956924	HepG2	liver:	n/a	chr5:4956813-4956833 chr5:4956822-4956833 chr5:4956817-4956826 chr5:4956816-4956830 chr5:4956818-4956833 chr5:4956815-4956831 chr5:4956821-4956835 chr5:4956820-4956829 chr5:4956817-4956827
46	MAFK	chr5:4989366-4989688	HepG2	liver:	n/a	n/a
47	MAX	chr5:4969549-4969558	NB4	blood:	n/a	n/a
48	MAX	chr5:4967981-4968084	NB4	blood:	n/a	n/a
49	MAX	chr5:4990087-4990094	NB4	blood:	n/a	n/a
50	MXI1	chr5:4965676-4965726	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:4959951..4963503-chr5:4964562..4967958,3	K562	blood:
2	chr5:4959951..4963503-chr5:4964562..4967958,3	K562	blood:
3	chr5:4989838..4992818-chr5:5420567..5423563,2	K562	blood:
4	chr5:4950277..4952171-chr5:4952831..4955441,2	K562	blood:
5	chr5:4948979..4951309-chr5:4958589..4960868,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED10-10	chr5:4970443-4970538	ENSG00000251506
2	lnc-MED10-10	chr5:4968916-4969023	ENSG00000251506
3	lnc-MED10-9	chr5:4975124-4975373	XLOC_004717
4	lnc-MED10-9	chr5:4974803-4974880	XLOC_004717
5	lnc-ADAMTS16-1	chr5:4987238-4987943	NONHSAT100152
6	lnc-MED10-10	chr5:4967877-4968116	ENSG00000251506

Variant related genes	Relation type
ENSG00000251506	TF binding region
ENSG00000164151	chromatin interactions
NR0B2	miRNA target sites
MAPK14	miRNA target sites

Extended variants
information (count: 1082 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs406402	chr5:4957017-4957018	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73735449	chr5:4957018-4957019	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529549271	chr5:4957027-4957028	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549451321	chr5:4957089-4957090	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs891003	chr5:4957104-4957105	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs891002	chr5:4957131-4957132	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376495522	chr5:4957134-4957135	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs570526291	chr5:4957139-4957140	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs539559270	chr5:4957164-4957165	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553094031	chr5:4957165-4957166	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs566592141	chr5:4957178-4957179	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs372355007	chr5:4957180-4957181	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs552455718	chr5:4958820-4958821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566305747	chr5:4958846-4958847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115597537	chr5:4958855-4958856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139245174	chr5:4958857-4958858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573284956	chr5:4958869-4958870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532484202	chr5:4958892-4958893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574434005	chr5:4958898-4958899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535811468	chr5:4958921-4958922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144041982	chr5:4958922-4958923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562992684	chr5:4958928-4958929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575683211	chr5:4958931-4958932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76010360	chr5:4958948-4958949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181219696	chr5:4958965-4958966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185808298	chr5:4958990-4958991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540954212	chr5:4958993-4958994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561205065	chr5:4958997-4958998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74935156	chr5:4959023-4959024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552488894	chr5:4959036-4959037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373112259	chr5:4959086-4959087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564408403	chr5:4959090-4959091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563682529	chr5:4959094-4959095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549139091	chr5:4959106-4959107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532643025	chr5:4959143-4959144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552687404	chr5:4959157-4959158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534527520	chr5:4960419-4960420	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs192775687	chr5:4960482-4960483	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs113026075	chr5:4960503-4960504	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182279124	chr5:4960549-4960550	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs186892135	chr5:4960588-4960589	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs183438168	chr5:4967889-4967890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs561598251	chr5:4967927-4967928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs530630701	chr5:4967942-4967943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs550461429	chr5:4967956-4967957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs570665299	chr5:4967968-4967969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs144503783	chr5:4967980-4967981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs530129420	chr5:4967994-4967995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs1452027	chr5:4968029-4968030	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs6882291	chr5:4968065-4968066	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:4957000-4957200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:4958800-4959200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:4959000-4959200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:4960400-4960600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:4969200-4970400	Enhancers	Fetal Lung	lung
6	chr5:4970400-4976800	Weak transcription	Fetal Lung	lung
7	chr5:4973600-4974200	Enhancers	Fetal Kidney	kidney
8	chr5:4974200-4976400	Weak transcription	Fetal Kidney	kidney
9	chr5:4974400-4974600	Enhancers	Pancreas	Pancrea
10	chr5:4974400-4975200	Enhancers	Ovary	ovary
11	chr5:4974600-4976800	Weak transcription	Pancreas	Pancrea
12	chr5:4975200-4976600	Weak transcription	Ovary	ovary
13	chr5:4976200-4978400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:4976400-4977000	Enhancers	Fetal Stomach	stomach
15	chr5:4976400-4977200	Enhancers	Fetal Kidney	kidney
16	chr5:4976600-4977200	Enhancers	Ovary	ovary
17	chr5:4976600-4977400	Enhancers	Fetal Muscle Leg	muscle
18	chr5:4976600-4978200	Enhancers	NH-A	brain
19	chr5:4976800-4977000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:4976800-4977000	Enhancers	Pancreas	Pancrea
21	chr5:4976800-4977200	Enhancers	Fetal Lung	lung
22	chr5:4976800-4978400	Enhancers	Osteobl	bone
23	chr5:4977000-4977200	Enhancers	Brain Angular Gyrus	brain
24	chr5:4977000-4977200	Enhancers	Brain Substantia Nigra	brain
25	chr5:4977000-4977600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:4977000-4977800	Weak transcription	Pancreas	Pancrea
27	chr5:4977200-4977600	Weak transcription	Ovary	ovary
28	chr5:4977200-4977800	Weak transcription	Brain Substantia Nigra	brain
29	chr5:4977200-4981000	Weak transcription	Fetal Kidney	kidney
30	chr5:4977400-4978000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:4977600-4978000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:4977600-4978000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:4977600-4978600	Enhancers	Ovary	ovary
34	chr5:4977800-4978000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:4977800-4978200	Enhancers	Pancreas	Pancrea
36	chr5:4977800-4978400	Enhancers	Brain Substantia Nigra	brain
37	chr5:4978000-4978200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:4978000-4978200	Enhancers	Brain Angular Gyrus	brain
39	chr5:4978000-4978200	Enhancers	Fetal Muscle Leg	muscle
40	chr5:4978000-4978400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:4978600-4982800	Weak transcription	Ovary	ovary
42	chr5:4981000-4981800	Enhancers	Fetal Kidney	kidney
43	chr5:4981800-4982800	Weak transcription	Fetal Kidney	kidney
44	chr5:4982800-4983800	Enhancers	Fetal Kidney	kidney
45	chr5:4982800-4984400	Enhancers	Ovary	ovary
46	chr5:4983200-4983800	Enhancers	Fetal Lung	lung
47	chr5:4983400-4984000	Enhancers	Fetal Stomach	stomach
48	chr5:4983800-4984200	Weak transcription	Fetal Kidney	kidney
49	chr5:4984000-4984200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:4984000-4984200	Enhancers	Brain Hippocampus Middle	brain

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