Variant report

Variant	nsv968229
Chromosome Location	chr5:99729149-99740034
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	CEBPB	chr5:99734563-99734858	K562	blood:	n/a	chr5:99734716-99734725 chr5:99734716-99734725 chr5:99734716-99734725 chr5:99734716-99734727 chr5:99734714-99734727 chr5:99734714-99734727 chr5:99734716-99734725
2	CTCF	chr5:99734932-99734978	ProgFib	skin:	n/a	n/a
3	CTCF	chr5:99733797-99733864	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr5:99733513-99733538	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:99733487-99733594	MCF-7	breast:	n/a	n/a
6	FOXA1	chr5:99737255-99737445	T-47D	breast:	n/a	chr5:99737322-99737337 chr5:99737357-99737372
7	FOXA2	chr5:99737262-99737499	A549	lung:	n/a	n/a
8	GATA2	chr5:99730840-99731086	K562	blood:	n/a	n/a
9	MAFF	chr5:99738731-99738983	HepG2	liver:	n/a	n/a
10	MAFK	chr5:99732365-99732541	HepG2	liver:	n/a	chr5:99732486-99732497 chr5:99732485-99732501 chr5:99732486-99732497 chr5:99732484-99732498 chr5:99732485-99732496 chr5:99732485-99732496
11	MAFK	chr5:99738713-99738949	HepG2	liver:	n/a	n/a
12	MAFK	chr5:99738707-99738907	HepG2	liver:	n/a	n/a
13	MAFK	chr5:99738612-99738628	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr5:99738707-99738862	MCF10A-Er-Src	breast:	n/a	n/a
15	NRF1	chr5:99739199-99739200	H1-hESC	embryonic stem cell:	n/a	n/a
16	PAX5	chr5:99730810-99731201	GM12878	blood:	n/a	n/a
17	PBX3	chr5:99729597-99729733	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:99738233-99738386	K562	blood:	n/a	n/a
19	POLR2A	chr5:99737041-99737219	MCF10A-Er-Src	breast:	n/a	n/a
20	POU2F2	chr5:99730885-99731067	GM12878	blood:	n/a	n/a
21	SP1	chr5:99730815-99731094	GM12878	blood:	n/a	n/a
22	SPI1	chr5:99734570-99734747	K562	blood:	n/a	chr5:99734655-99734668 chr5:99734698-99734705 chr5:99734657-99734666
23	SPI1	chr5:99734571-99734778	GM12878	blood:	n/a	chr5:99734655-99734668 chr5:99734698-99734705 chr5:99734657-99734666
24	SPI1	chr5:99734537-99734816	GM12891	blood:	n/a	chr5:99734655-99734668 chr5:99734698-99734705 chr5:99734657-99734666
25	SPI1	chr5:99732893-99733207	GM12891	blood:	n/a	n/a
26	SPI1	chr5:99732888-99733205	GM12878	blood:	n/a	n/a
27	SPI1	chr5:99732942-99733147	GM12878	blood:	n/a	n/a
28	SPI1	chr5:99732826-99733189	GM12891	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-1	chr5:99737145-99737487	XLOC_004490
2	lnc-FAM174A-1	chr5:99737164-99737487	XLOC_004490
3	lnc-FAM174A-1	chr5:99737280-99737487	NONHSAT103000

Variant related genes	Relation type
ENSG00000249787	TF binding region
DMD	miRNA target sites
FAM81A	miRNA target sites

Extended variants
information (count: 181 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544575352	chr5:99732461-99732462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556601601	chr5:99732509-99732510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574934690	chr5:99732522-99732523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189240084	chr5:99732846-99732847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543888417	chr5:99732862-99732863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368169408	chr5:99732879-99732880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561335683	chr5:99732906-99732907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528914282	chr5:99732972-99732973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200838077	chr5:99733040-99733041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201860906	chr5:99733085-99733086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559343327	chr5:99733862-99733863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532830021	chr5:99734402-99734403	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2927011	chr5:99734444-99734445	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563603653	chr5:99734458-99734459	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181346014	chr5:99734476-99734477	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370570210	chr5:99734539-99734540	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568424540	chr5:99734599-99734600	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529394773	chr5:99734608-99734609	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183603891	chr5:99734609-99734610	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547614508	chr5:99734614-99734615	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372290121	chr5:99734651-99734652	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566047987	chr5:99734666-99734667	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539472994	chr5:99734701-99734702	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557999177	chr5:99734718-99734719	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570028785	chr5:99734740-99734741	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367703390	chr5:99734756-99734757	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs537208436	chr5:99734778-99734779	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551426529	chr5:99734819-99734820	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555929657	chr5:99734820-99734821	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574197956	chr5:99734827-99734828	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541113002	chr5:99734840-99734841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552829146	chr5:99734857-99734858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374815708	chr5:99734875-99734876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577690956	chr5:99734879-99734880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188316795	chr5:99734934-99734935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563542636	chr5:99734950-99734951	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530838132	chr5:99734991-99734992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56060625	chr5:99735045-99735046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560100435	chr5:99735078-99735079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542413132	chr5:99735091-99735092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369103621	chr5:99735104-99735105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561135703	chr5:99735173-99735174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56031114	chr5:99735174-99735175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13167564	chr5:99735178-99735179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs202177611	chr5:99735186-99735187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71586523	chr5:99735203-99735204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149781377	chr5:99735220-99735221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550279255	chr5:99735225-99735226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551369171	chr5:99735259-99735260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181072538	chr5:99735263-99735264	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99734400-99734800	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:99734400-99735400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:99736800-99738200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:99737000-99738000	Enhancers	Fetal Lung	lung
5	chr5:99737200-99738200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:99737400-99738000	Active TSS	Fetal Brain Male	brain
7	chr5:99738000-99738800	Weak transcription	Fetal Brain Male	brain
8	chr5:99738000-99740000	Weak transcription	Fetal Lung	lung
9	chr5:99738200-99739200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:99739200-99739400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:99740000-99740600	Enhancers	Fetal Lung	lung

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