Variant report

Variant	nsv537879
Chromosome Location	chr5:117148087-117274792
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	BACH1	chr5:117188782-117188783	K562	blood:	n/a	n/a
2	BRCA1	chr5:117225271-117225273	GM12878	blood:	n/a	n/a
3	BRCA1	chr5:117192690-117192791	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr5:117173830-117173997	K562	blood:	n/a	n/a
5	CCNT2	chr5:117264356-117264536	K562	blood:	n/a	n/a
6	CEBPB	chr5:117172935-117173233	HepG2	liver:	n/a	chr5:117173066-117173079 chr5:117173067-117173078
7	CEBPB	chr5:117172354-117172704	A549	lung:	n/a	chr5:117172536-117172547
8	CEBPB	chr5:117238164-117238250	A549	lung:	n/a	n/a
9	CEBPB	chr5:117225285-117225673	IMR90	lung:	n/a	n/a
10	CEBPB	chr5:117172356-117172719	HepG2	liver:	n/a	chr5:117172536-117172547
11	CEBPB	chr5:117172423-117172650	H1-hESC	embryonic stem cell:	n/a	chr5:117172536-117172547
12	CEBPB	chr5:117172347-117172719	IMR90	lung:	n/a	chr5:117172536-117172547
13	CEBPB	chr5:117228871-117229261	IMR90	lung:	n/a	n/a
14	CEBPB	chr5:117265625-117265899	HepG2	liver:	n/a	chr5:117265754-117265765
15	CEBPB	chr5:117168507-117168774	A549	lung:	n/a	chr5:117168641-117168652
16	CEBPB	chr5:117168511-117168821	IMR90	lung:	n/a	chr5:117168641-117168652
17	CEBPB	chr5:117168502-117168804	HepG2	liver:	n/a	chr5:117168641-117168652
18	CEBPB	chr5:117265654-117265907	IMR90	lung:	n/a	chr5:117265754-117265765
19	CTCF	chr5:117165720-117165870	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr5:117267736-117267849	GM20000	blood:	n/a	n/a
21	CTCF	chr5:117219393-117219493	GM20000	blood:	n/a	n/a
22	CTCF	chr5:117242230-117242302	GM10248	blood:	n/a	n/a
23	CTCF	chr5:117158477-117158527	GM10248	blood:	n/a	n/a
24	CUX1	chr5:117251573-117251663	GM12878	blood:	n/a	n/a
25	E2F4	chr5:117241110-117241297	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr5:117238676-117238808	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr5:117255351-117255488	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr5:117229639-117229839	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr5:117180648-117180853	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr5:117224614-117224716	GM12878	blood:	n/a	n/a
31	EP300	chr5:117261400-117261801	T-47D	breast:	n/a	n/a
32	FOS	chr5:117264385-117264533	MCF10A-Er-Src	breast:	n/a	chr5:117264476-117264485 chr5:117264475-117264484
33	FOS	chr5:117225366-117225666	MCF10A-Er-Src	breast:	n/a	chr5:117225487-117225496 chr5:117225609-117225618
34	FOS	chr5:117225305-117225619	MCF10A-Er-Src	breast:	n/a	chr5:117225487-117225496 chr5:117225609-117225618
35	FOS	chr5:117204811-117205203	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr5:117204883-117205245	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr5:117225326-117225702	MCF10A-Er-Src	breast:	n/a	chr5:117225487-117225496 chr5:117225609-117225618
38	FOXA1	chr5:117216529-117216931	T-47D	breast:	n/a	chr5:117216843-117216855
39	FOXA1	chr5:117196892-117197187	T-47D	breast:	n/a	n/a
40	FOXA1	chr5:117196833-117197097	T-47D	breast:	n/a	n/a
41	GATA2	chr5:117201927-117202134	SH-SY5Y	brain:	n/a	chr5:117202006-117202022
42	GATA3	chr5:117179421-117179487	SH-SY5Y	brain:	n/a	chr5:117179425-117179446 chr5:117179427-117179443
43	GATA3	chr5:117192412-117192574	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr5:117239495-117239650	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr5:117195693-117195851	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr5:117201879-117202157	SH-SY5Y	brain:	n/a	chr5:117202006-117202022
47	IRF3	chr5:117170754-117170800	GM12878	blood:	n/a	n/a
48	JUN	chr5:117188699-117188882	K562	blood:	n/a	n/a
49	JUN	chr5:117192523-117192733	HepG2	liver:	n/a	chr5:117192578-117192591 chr5:117192582-117192591 chr5:117192620-117192629 chr5:117192616-117192629
50	JUN	chr5:117263135-117263191	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
2	chr5:117201656..117203414-chr5:117208664..117210271,2	MCF-7	breast:
3	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:
4	chr5:117268408..117270558-chr5:117281285..117282851,2	MCF-7	breast:
5	chr5:117149206..117151782-chr5:117152643..117155518,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117260705-117260826	NR_104997
2	lnc-DMXL1-4	chr5:117260703-117260826	XLOC_004524
3	lnc-DMXL1-4	chr5:117260715-117260826	XLOC_004524

Variant related genes	Relation type
ENSG00000249797	TF binding region

Extended variants
information (count: 1072 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1072 , 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	rs74759410	chr5:117148442-117148443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540078790	chr5:117148445-117148446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34233961	chr5:117148463-117148464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537986520	chr5:117148507-117148508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190030962	chr5:117148546-117148547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571453796	chr5:117148547-117148548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144114527	chr5:117148562-117148563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561530839	chr5:117148563-117148564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183300489	chr5:117148564-117148565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529203358	chr5:117148565-117148566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550825847	chr5:117148626-117148627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146490003	chr5:117148630-117148631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367669386	chr5:117148642-117148643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560318415	chr5:117148690-117148691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73785281	chr5:117148715-117148716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114035413	chr5:117148804-117148805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575328376	chr5:117148805-117148806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150009817	chr5:117148815-117148816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188024484	chr5:117148816-117148817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533599293	chr5:117148822-117148823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540537541	chr5:117148845-117148846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145224387	chr5:117148854-117148855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528849101	chr5:117148883-117148884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75761138	chr5:117148897-117148898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562508413	chr5:117148900-117148901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149151581	chr5:117148919-117148920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566615246	chr5:117148929-117148930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551482676	chr5:117149011-117149012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113976169	chr5:117149013-117149014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534006515	chr5:117149078-117149079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547332469	chr5:117149083-117149084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200962432	chr5:117149093-117149094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143227521	chr5:117149131-117149132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151335521	chr5:117149143-117149144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555329752	chr5:117149161-117149162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534533204	chr5:117165022-117165023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6869085	chr5:117165051-117165052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10060311	chr5:117165057-117165058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535905837	chr5:117165081-117165082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533079206	chr5:117165083-117165084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575780673	chr5:117165128-117165129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544796392	chr5:117165134-117165135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558751565	chr5:117165142-117165143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190673471	chr5:117165171-117165172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146167546	chr5:117165177-117165178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560252839	chr5:117165207-117165208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139004401	chr5:117165259-117165260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543090664	chr5:117165267-117165268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115148295	chr5:117165269-117165270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531874535	chr5:117165274-117165275	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117148400-117149200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:117165000-117165400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:117165000-117165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:117165000-117166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:117165200-117165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:117165200-117166000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:117165200-117166000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:117165200-117166000	Enhancers	Spleen	Spleen
9	chr5:117165200-117166400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:117165400-117165800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:117165400-117166000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:117165400-117166000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:117165400-117166000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:117165400-117166400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:117165600-117166000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:117166000-117166200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:117166000-117167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:117167200-117167400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:117169400-117170000	Enhancers	Adipose Nuclei	Adipose
20	chr5:117180600-117181000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:117193800-117194600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:117193800-117200800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:117194000-117195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:117194400-117195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:117194400-117195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:117194600-117195000	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:117194600-117195800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:117194800-117195200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:117195200-117199000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:117195600-117197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:117195800-117196200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:117195800-117198800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:117195800-117198800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:117196000-117196600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:117196200-117196400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:117196400-117198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:117197600-117197800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:117197800-117198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:117198200-117199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:117198400-117200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:117198800-117199200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:117198800-117199400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr5:117199000-117200200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:117199400-117199600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr5:117199600-117200600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:117200600-117201000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:117202600-117202800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:117205400-117206400	Enhancers	Fetal Brain Female	brain
49	chr5:117208000-117208600	Enhancers	Fetal Muscle Leg	muscle
50	chr5:117208400-117208800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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