Variant report

Variant	nsv1035363
Chromosome Location	chr9:115881588-115909536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:115901124-115902211	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:115905739-115905943	HepG2	liver:	n/a	n/a
3	BHLHE40	chr9:115901592-115902043	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:115900015-115900371	HepG2	liver:	n/a	chr9:115900196-115900207
5	CEBPB	chr9:115905580-115905832	H1-hESC	embryonic stem cell:	n/a	chr9:115905698-115905709
6	CEBPB	chr9:115905565-115905847	A549	lung:	n/a	chr9:115905698-115905709
7	CEBPB	chr9:115905629-115905817	Hela-S3	cervix:	n/a	chr9:115905698-115905709
8	CEBPB	chr9:115905531-115905836	IMR90	lung:	n/a	chr9:115905698-115905709
9	CEBPB	chr9:115901681-115902131	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:115900103-115900282	Hela-S3	cervix:	n/a	chr9:115900196-115900207
11	CEBPB	chr9:115905520-115905886	HepG2	liver:	n/a	chr9:115905698-115905709
12	CEBPB	chr9:115905556-115905870	K562	blood:	n/a	chr9:115905698-115905709
13	CEBPB	chr9:115899642-115900410	MCF-7	breast:	n/a	chr9:115900196-115900207 chr9:115899687-115899698
14	CEBPZ	chr9:115890537-115890588	HepG2	liver:	n/a	n/a
15	CTCF	chr9:115905899-115905961	MCF-7	breast:	n/a	n/a
16	CTCF	chr9:115905820-115905970	HMEC	breast:	n/a	n/a
17	CTCF	chr9:115905780-115905930	HCT-116	colon:	n/a	n/a
18	CTCF	chr9:115893880-115894030	GM12873	blood:	n/a	n/a
19	CTCF	chr9:115905820-115905970	Caco-2	colon:	n/a	n/a
20	CTCF	chr9:115905740-115905890	HCT-116	colon:	n/a	n/a
21	CTCF	chr9:115909426-115909758	H1-hESC	embryonic stem cell:	n/a	chr9:115909632-115909645
22	CTCF	chr9:115887880-115888030	GM06990	blood:	n/a	n/a
23	CTCF	chr9:115905800-115905950	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr9:115905840-115905990	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr9:115905800-115905950	A549	lung:	n/a	n/a
26	CTCF	chr9:115905760-115905910	HEK293	kidney:	n/a	n/a
27	CTCF	chr9:115905823-115905972	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr9:115909520-115909670	BE2_C	brain:	n/a	chr9:115909632-115909645
29	CTCF	chr9:115905820-115905970	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:115905820-115905970	HepG2	liver:	n/a	n/a
31	CTCF	chr9:115905840-115905990	BE2_C	brain:	n/a	n/a
32	CTCF	chr9:115905856-115905900	LNCaP	prostate:	n/a	n/a
33	CTCF	chr9:115905780-115905930	HepG2	liver:	n/a	n/a
34	CTCF	chr9:115905843-115905976	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:115905846-115905950	HepG2	liver:	n/a	n/a
36	CTCF	chr9:115905860-115906010	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:115905819-115905979	MCF-7	breast:	n/a	n/a
38	ELF1	chr9:115899544-115900453	MCF-7	breast:	n/a	n/a
39	EP300	chr9:115901719-115902508	HepG2	liver:	n/a	n/a
40	EP300	chr9:115899803-115900286	MCF-7	breast:	n/a	chr9:115900193-115900207
41	EP300	chr9:115899743-115900473	T-47D	breast:	n/a	chr9:115900193-115900207
42	EP300	chr9:115909499-115910338	SK-N-SH	brain:	n/a	chr9:115909544-115909554 chr9:115909871-115909881
43	EP300	chr9:115901590-115902228	HepG2	liver:	n/a	chr9:115901657-115901671
44	EP300	chr9:115901591-115902202	HepG2	liver:	n/a	chr9:115901657-115901671
45	EP300	chr9:115899616-115900486	T-47D	breast:	n/a	chr9:115900193-115900207
46	ESR1	chr9:115901709-115902261	T-47D	breast:	n/a	n/a
47	ESR1	chr9:115901674-115902211	T-47D	breast:	n/a	n/a
48	ESR1	chr9:115899767-115900387	T-47D	breast:	n/a	n/a
49	ESR1	chr9:115899451-115900156	T-47D	breast:	n/a	n/a
50	ESR1	chr9:115901724-115902229	T-47D	breast:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:115887611..115890231-chr9:115913519..115916345,2	MCF-7	breast:
2	chr9:115884518..115887843-chr9:115899953..115901831,3	MCF-7	breast:
3	chr9:115888226..115890685-chr9:115891498..115893833,2	MCF-7	breast:
4	chr9:115890845..115895225-chr9:115895362..115900277,5	MCF-7	breast:
5	chr9:115892442..115895400-chr9:115904212..115906056,3	MCF-7	breast:
6	chr9:115886679..115889181-chr9:115895702..115897217,2	MCF-7	breast:
7	chr9:115888448..115891950-chr9:115898465..115901029,3	MCF-7	breast:
8	chr9:115886125..115889063-chr9:115896987..115899858,2	K562	blood:
9	chr9:115898948..115900526-chr9:115901136..115903192,2	K562	blood:
10	chr9:115900227..115901850-chr9:115926488..115929015,2	MCF-7	breast:
11	chr9:115899892..115901950-chr9:115925051..115926804,2	MCF-7	breast:
12	chr9:115904166..115905985-chr9:115907508..115909495,2	K562	blood:
13	chr9:115888448..115891950-chr9:115898465..115901029,3	MCF-7	breast:
14	chr9:115890546..115893506-chr9:115895057..115896950,2	K562	blood:
15	chr9:115880293..115882518-chr9:115890659..115892988,2	K562	blood:
16	chr9:115898948..115900526-chr9:115901136..115903192,2	K562	blood:
17	chr9:115893647..115895768-chr9:115898797..115900868,2	K562	blood:
18	chr9:115882894..115884462-chr9:115915677..115917990,2	MCF-7	breast:
19	chr9:115892442..115895400-chr9:115904212..115906056,3	MCF-7	breast:
20	chr9:115886679..115889181-chr9:115895702..115897217,2	MCF-7	breast:
21	chr9:115873480..115874076-chr9:115899935..115900570,3	MCF-7	breast:
22	chr9:115904166..115905985-chr9:115907508..115909495,2	K562	blood:
23	chr9:115890546..115893506-chr9:115895057..115896950,2	K562	blood:
24	chr9:115884874..115886487-chr9:115927190..115929312,2	K562	blood:
25	chr9:115881515..115883241-chr9:115913395..115914943,2	MCF-7	breast:
26	chr19:13262562..13265292-chr9:115900215..115901888,2	MCF-7	breast:
27	chr9:115890845..115895225-chr9:115895362..115900277,5	MCF-7	breast:
28	chr9:115882399..115884999-chr9:115891613..115894561,3	MCF-7	breast:
29	chr9:115890878..115893257-chr9:115912029..115915211,3	MCF-7	breast:
30	chr9:115893647..115895768-chr9:115898797..115900868,2	K562	blood:
31	chr9:115888226..115890685-chr9:115891498..115893833,2	MCF-7	breast:
32	chr9:115887976..115889749-chr9:115910119..115911972,2	MCF-7	breast:
33	chr9:115886125..115889063-chr9:115896987..115899858,2	K562	blood:
34	chr9:115905644..115908349-chr9:115914691..115916468,2	K562	blood:
35	chr9:115880293..115882518-chr9:115890659..115892988,2	K562	blood:
36	chr9:115905880..115908127-chr9:115911738..115913287,2	K562	blood:
37	chr9:115882399..115884999-chr9:115891613..115894561,3	MCF-7	breast:
38	chr9:115904438..115911145-chr9:115911174..115916685,7	K562	blood:
39	chr9:115884518..115887843-chr9:115899953..115901831,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC31A2-1	chr9:115876700-115882126	NONHSAT134170
2	lnc-SLC31A2-1	chr9:115876700-115882126	ENSG00000231528

No data

Variant related genes	Relation type
SLC31A2	TF binding region
ENSG00000225684	chromatin interactions
ENSG00000267598	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000136867	chromatin interactions

Extended variants
information (count: 1157 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141797074	chr9:115881591-115881592	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs190518338	chr9:115881627-115881628	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540765059	chr9:115881653-115881654	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs12236936	chr9:115881664-115881665	Strong transcription Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146237409	chr9:115881668-115881669	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533628372	chr9:115881680-115881681	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565196069	chr9:115881687-115881688	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530671084	chr9:115881688-115881689	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs41280205	chr9:115881708-115881709	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566964175	chr9:115881752-115881753	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs529629005	chr9:115881760-115881761	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546706407	chr9:115881768-115881769	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs201393210	chr9:115881779-115881780	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs566419300	chr9:115881787-115881788	Strong transcription Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs547323351	chr9:115881869-115881870	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558835342	chr9:115881874-115881875	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs569428672	chr9:115881918-115881919	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570754049	chr9:115881934-115881935	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538575802	chr9:115882004-115882005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs149861270	chr9:115882018-115882019	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs556246510	chr9:115882042-115882043	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs555285856	chr9:115882051-115882052	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs574914279	chr9:115882052-115882053	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs7041987	chr9:115882060-115882061	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554255898	chr9:115882062-115882063	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs577228756	chr9:115882129-115882130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545192975	chr9:115882136-115882137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141770948	chr9:115882141-115882142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574543681	chr9:115882160-115882161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575087310	chr9:115882177-115882178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181118749	chr9:115882193-115882194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80072761	chr9:115882199-115882200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186401927	chr9:115882206-115882207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs41280207	chr9:115882250-115882251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560194582	chr9:115882254-115882255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532151994	chr9:115882291-115882292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552237692	chr9:115882310-115882311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566951395	chr9:115882317-115882318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199592330	chr9:115882318-115882319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538419976	chr9:115882354-115882355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548921067	chr9:115882381-115882382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539778243	chr9:115882397-115882398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373001547	chr9:115882398-115882399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536087058	chr9:115882428-115882429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190921493	chr9:115882451-115882452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557713343	chr9:115882458-115882459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376101217	chr9:115882468-115882469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182486764	chr9:115882479-115882480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577006854	chr9:115882496-115882497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374029288	chr9:115882497-115882498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115875200-115881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:115875200-115884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:115881400-115881800	Enhancers	Liver	Liver
4	chr9:115881400-115881800	Enhancers	Placenta	Placenta
5	chr9:115881600-115882000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:115882000-115884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:115883600-115884200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr9:115883800-115884000	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:115884200-115892200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:115884600-115884800	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:115886600-115886800	Enhancers	Left Ventricle	heart
12	chr9:115887200-115888000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr9:115887200-115888400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr9:115887600-115888000	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:115887600-115888000	Enhancers	GM12878-XiMat	blood
16	chr9:115892000-115892600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:115892000-115893200	Enhancers	Placenta	Placenta
18	chr9:115892000-115894800	Enhancers	Brain Hippocampus Middle	brain
19	chr9:115892200-115894800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:115892800-115893000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr9:115892800-115893200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:115892800-115894800	Enhancers	Brain Substantia Nigra	brain
23	chr9:115893000-115894800	Enhancers	Brain Angular Gyrus	brain
24	chr9:115893000-115894800	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:115893000-115895000	Enhancers	Brain Anterior Caudate	brain
26	chr9:115893200-115893600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:115893200-115893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:115893200-115897400	Weak transcription	Placenta	Placenta
29	chr9:115893600-115894400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:115893600-115894800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:115893800-115894000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr9:115893800-115894600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:115893800-115894800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:115894000-115894200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr9:115894000-115894600	Enhancers	Right Ventricle	heart
36	chr9:115894000-115894800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:115894000-115894800	Enhancers	Fetal Heart	heart
38	chr9:115894400-115894600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:115894800-115896000	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:115894800-115896200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:115894800-115896400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:115894800-115896400	Weak transcription	Brain Substantia Nigra	brain
43	chr9:115894800-115899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:115894800-115900000	Weak transcription	Brain Angular Gyrus	brain
45	chr9:115895000-115896000	Weak transcription	Brain Anterior Caudate	brain
46	chr9:115896000-115896600	Enhancers	Brain Hippocampus Middle	brain
47	chr9:115896000-115897000	Enhancers	Brain Anterior Caudate	brain
48	chr9:115896200-115896800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr9:115896400-115897400	Enhancers	Brain Substantia Nigra	brain
50	chr9:115896400-115897600	Enhancers	Brain Cingulate Gyrus	brain

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