Variant report

Variant	nsv1033381
Chromosome Location	chr5:99487408-99567569
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	ATF2	chr5:99500941-99501405	GM12878	blood:	n/a	n/a
2	BACH1	chr5:99563415-99563480	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr5:99501052-99501415	GM12878	blood:	n/a	chr5:99501194-99501205
4	BATF	chr5:99501068-99501408	GM12878	blood:	n/a	chr5:99501194-99501205
5	BCL11A	chr5:99501044-99501395	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:99501084-99501317	GM12878	blood:	n/a	n/a
7	BCL3	chr5:99501083-99501319	GM12878	blood:	n/a	n/a
8	BCLAF1	chr5:99501079-99501347	GM12878	blood:	n/a	n/a
9	BCLAF1	chr5:99501053-99501362	GM12878	blood:	n/a	n/a
10	CBX3	chr5:99497665-99498015	HCT-116	colon:	n/a	n/a
11	CEBPB	chr5:99535758-99535912	HepG2	liver:	n/a	n/a
12	CEBPB	chr5:99524068-99524370	IMR90	lung:	n/a	n/a
13	CEBPB	chr5:99524048-99524422	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr5:99524041-99524419	A549	lung:	n/a	n/a
15	CEBPB	chr5:99524062-99524391	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:99523928-99524503	MCF-7	breast:	n/a	n/a
17	CEBPB	chr5:99524038-99524345	A549	lung:	n/a	n/a
18	CEBPB	chr5:99524056-99524423	A549	lung:	n/a	n/a
19	CEBPB	chr5:99524035-99524420	MCF-7	breast:	n/a	n/a
20	CEBPB	chr5:99524073-99524398	K562	blood:	n/a	n/a
21	CEBPB	chr5:99524051-99524404	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:99524021-99524451	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr5:99552430-99552649	HepG2	liver:	n/a	chr5:99552488-99552499
24	CEBPB	chr5:99494768-99494900	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:99524070-99524414	HepG2	liver:	n/a	n/a
26	CTCF	chr5:99494559-99494603	GM10248	blood:	n/a	n/a
27	CTCF	chr5:99501304-99501321	IMR90	lung:	n/a	n/a
28	CTCF	chr5:99552195-99552240	GM13976	blood:	n/a	n/a
29	CTCF	chr5:99565340-99565490	NHLF	lung:	n/a	n/a
30	CTCF	chr5:99501152-99501184	ProgFib	skin:	n/a	n/a
31	CUX1	chr5:99541625-99541637	GM12878	blood:	n/a	n/a
32	E2F4	chr5:99487967-99488409	MCF10A-Er-Src	breast:	n/a	chr5:99488169-99488178
33	E2F4	chr5:99543375-99543575	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr5:99501049-99501309	GM12878	blood:	n/a	n/a
35	EBF1	chr5:99501114-99501348	GM12878	blood:	n/a	n/a
36	EP300	chr5:99501020-99501355	GM12878	blood:	n/a	chr5:99501043-99501057
37	EP300	chr5:99501078-99501373	GM12878	blood:	n/a	n/a
38	EP300	chr5:99519700-99519725	GM12878	blood:	n/a	n/a
39	FAM48A	chr5:99524190-99524316	GM12878	blood:	n/a	n/a
40	FOS	chr5:99533165-99533168	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr5:99524202-99524275	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr5:99548793-99549130	MCF10A-Er-Src	breast:	n/a	chr5:99548944-99548954 chr5:99548944-99548953 chr5:99548944-99548954 chr5:99548944-99548954 chr5:99548944-99548954
43	FOS	chr5:99548810-99549066	MCF10A-Er-Src	breast:	n/a	chr5:99548944-99548954 chr5:99548944-99548953 chr5:99548944-99548954 chr5:99548944-99548954 chr5:99548944-99548954
44	FOS	chr5:99548865-99549088	MCF10A-Er-Src	breast:	n/a	chr5:99548944-99548954 chr5:99548944-99548953 chr5:99548944-99548954 chr5:99548944-99548954 chr5:99548944-99548954
45	GATA3	chr5:99523968-99524370	MCF-7	breast:	n/a	n/a
46	GATA3	chr5:99523892-99524568	MCF-7	breast:	n/a	n/a
47	GTF2F1	chr5:99563647-99563672	H1-hESC	embryonic stem cell:	n/a	n/a
48	IKZF1	chr5:99501132-99501295	GM12878	blood:	n/a	n/a
49	IRF1	chr5:99541138-99541178	K562	blood:	n/a	n/a
50	IRF4	chr5:99501026-99501394	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1119P	TF binding region

Extended variants
information (count: 749 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558385010	chr5:99488004-99488005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181634647	chr5:99488020-99488021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543375887	chr5:99488035-99488036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs61498481	chr5:99488061-99488062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529498498	chr5:99488071-99488072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185529150	chr5:99488077-99488078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573433435	chr5:99488149-99488150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540715138	chr5:99488223-99488224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559169421	chr5:99488227-99488228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532913366	chr5:99488270-99488271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544983078	chr5:99488318-99488319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563565454	chr5:99488322-99488323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11746218	chr5:99488359-99488360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372917414	chr5:99488390-99488391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs114615961	chr5:99494024-99494025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73150910	chr5:99494107-99494108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564432465	chr5:99494145-99494146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577716361	chr5:99494149-99494150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545297466	chr5:99494155-99494156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563403441	chr5:99494171-99494172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192138398	chr5:99494212-99494213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149453643	chr5:99494246-99494247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562050802	chr5:99494247-99494248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76835079	chr5:99494248-99494249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374959098	chr5:99494279-99494280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547574863	chr5:99494285-99494286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559904024	chr5:99494301-99494302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533328394	chr5:99494318-99494319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552071401	chr5:99494419-99494420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570040718	chr5:99494444-99494445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77190403	chr5:99494452-99494453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73150913	chr5:99494479-99494480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183762150	chr5:99494632-99494633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188431319	chr5:99494647-99494648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143901184	chr5:99494655-99494656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73150915	chr5:99494657-99494658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566867481	chr5:99494679-99494680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577783755	chr5:99494705-99494706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386690471	chr5:99494723-99494724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10052414	chr5:99494739-99494740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111263198	chr5:99494768-99494769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542935571	chr5:99494777-99494778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76998525	chr5:99494793-99494794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527395777	chr5:99503202-99503203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545719223	chr5:99503219-99503220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564061566	chr5:99503283-99503284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531467176	chr5:99503292-99503293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4389662	chr5:99503303-99503304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs201667317	chr5:99503306-99503307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185524708	chr5:99503307-99503308	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99494000-99494800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99503200-99503800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:99503200-99503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:99503400-99503800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:99503400-99503800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:99503400-99503800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:99509800-99510200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:99510200-99510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:99510600-99512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:99510800-99511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:99510800-99512000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:99521400-99523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:99521600-99522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:99521600-99523200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:99521800-99522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:99521800-99522800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:99521800-99523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:99521800-99523200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:99522000-99522400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:99542600-99543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:99542800-99543200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:99543000-99543400	Active TSS	Fetal Lung	lung
25	chr5:99546200-99546600	Active TSS	Fetal Heart	heart
26	chr5:99558200-99559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:99558200-99560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:99564800-99567800	Weak transcription	Fetal Brain Male	brain

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