Variant report

Variant	nsv8590
Chromosome Location	chr9:141035454-141131149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1391)
CpG islands
(count:672)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1391 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:141054176-141054450	A549	lung:	n/a	n/a
2	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
3	BATF	chr9:141128455-141128723	GM12878	blood:	n/a	n/a
4	BATF	chr9:141128400-141128680	GM12878	blood:	n/a	n/a
5	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
6	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
7	BATF	chr9:141054182-141054368	GM12878	blood:	n/a	n/a
8	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
9	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
10	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
11	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
12	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
13	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
14	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
15	BATF	chr9:141050185-141050584	GM12878	blood:	n/a	n/a
16	BATF	chr9:141064102-141064298	GM12878	blood:	n/a	n/a
17	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:141067698-141067987	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:141122785-141122963	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:141054194-141054361	GM12878	blood:	n/a	n/a
22	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
24	BCL11A	chr9:141129767-141129926	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:141128443-141128816	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:141054141-141054402	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:141126990-141127300	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:141128328-141128725	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:141061417-141061666	HepG2	liver:	n/a	n/a
35	BHLHE40	chr9:141044398-141044667	HepG2	liver:	n/a	n/a
36	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
37	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
38	CBX3	chr9:141128381-141128955	K562	blood:	n/a	n/a
39	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
40	CBX3	chr9:141044327-141044724	K562	blood:	n/a	n/a
41	CBX3	chr9:141041994-141042355	K562	blood:	n/a	n/a
42	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
43	CEBPB	chr9:141066417-141066641	MCF-7	breast:	n/a	n/a
44	CEBPD	chr9:141122140-141123758	K562	blood:	n/a	n/a
45	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
46	CTCF	chr9:141044769-141044822	Gliobla	brain:	n/a	n/a
47	CTCF	chr9:141121331-141121540	Fibrobl	skin:	n/a	n/a
48	CTCF	chr9:141044400-141044550	WERI-Rb-1	eye:	n/a	chr9:141044508-141044521 chr9:141044506-141044522 chr9:141044505-141044523
49	CTCF	chr9:141121323-141121535	NHEK	skin:	n/a	n/a
50	CTCF	chr9:141042120-141042270	GM12869	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141111396-141111446	AG04450	lung:	fetal
2	chr9:141111396-141111446	AG04450	lung:	fetal
3	chr9:141109427-141109477	AG09319	gingival:	n/a
4	chr9:141044509-141044559	SK-N-MC	brain:	n/a
5	chr9:141105202-141105252	MCF10A-Er-Src	breast:	n/a
6	chr9:141045017-141045067	BE2_C	brain:	n/a
7	chr9:141111141-141111191	SAEC	small airway:	n/a
8	chr9:141042435-141042485	NHBE	bronchial:	n/a
9	chr9:141105974-141106024	HMEC	breast:	n/a
10	chr9:141045017-141045067	NH-A	brain:	n/a
11	chr9:141042453-141042503	HCPEpiC	choroid plexus:	n/a
12	chr9:141111396-141111446	HIPEpiC	eye:	n/a
13	chr9:141067944-141067994	MCF10A-Er-Src	breast:	n/a
14	chr9:141042435-141042485	HMEC	breast:	n/a
15	chr9:141109427-141109477	HUVEC	blood vessel:	n/a
16	chr9:141044509-141044559	HCF	heart:	n/a
17	chr9:141069847-141069897	GM12878	blood:	n/a
18	chr9:141045017-141045067	AoSMC	blood vessel:	n/a
19	chr9:141067944-141067994	HCF	heart:	n/a
20	chr9:141109427-141109477	HRE	kidney:	n/a
21	chr9:141105974-141106024	CMK	blood:	n/a
22	chr9:141111141-141111191	U87	brain:	n/a
23	chr9:141045017-141045067	HAEpiC	amniotic membrane:	n/a
24	chr9:141045017-141045067	MCF10A-Er-Src	breast:	n/a
25	chr9:141111396-141111446	HCF	heart:	n/a
26	chr9:141069847-141069897	GM19239	blood:	n/a
27	chr9:141042453-141042503	NHBE	bronchial:	n/a
28	chr9:141042453-141042503	GM06990	blood:	n/a
29	chr9:141105974-141106024	GM19239	blood:	n/a
30	chr9:141042453-141042503	AG10803	skin:	n/a
31	chr9:141111396-141111446	HNPCEpiC	eye:	n/a
32	chr9:141109427-141109477	PFSK-1	brain:	n/a
33	chr9:141111141-141111191	Jurkat	blood:	n/a
34	chr9:141067944-141067994	H1-hESC	embryonic stem cell:	embryo
35	chr9:141045017-141045067	A549	lung:	n/a
36	chr9:141105202-141105252	HUVEC	blood vessel:	n/a
37	chr9:141105202-141105252	RPTEC	kidney:	n/a
38	chr9:141111396-141111446	HCPEpiC	choroid plexus:	n/a
39	chr9:141111141-141111191	IMR90	lung:	fetal
40	chr9:141042453-141042503	HNPCEpiC	eye:	n/a
41	chr9:141042435-141042485	HCT-116	colon:	n/a
42	chr9:141042435-141042485	HAEpiC	amniotic membrane:	n/a
43	chr9:141111396-141111446	U87	brain:	n/a
44	chr9:141067944-141067994	HepG2	liver:	n/a
45	chr9:141105202-141105252	SAEC	small airway:	n/a
46	chr9:141045017-141045067	PFSK-1	brain:	n/a
47	chr9:141105202-141105252	AG09309	skin:	n/a
48	chr9:141105974-141106024	NH-A	brain:	n/a
49	chr9:141045017-141045067	ovcar-3	ovarian:	n/a
50	chr9:141042435-141042485	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
2	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:
3	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:

No data

Variant related genes	Relation type
TUBBP5	TF binding region
ENSG00000237419	TF binding region
FAM157B	TF binding region
TUBBP5	CpG island
ENSG00000237419	CpG island
FAM157B	CpG island
ENSG00000230368	chromatin interactions

Extended variants
information (count: 1888 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:1888 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9942880	chr9:141035467-141035468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7857892	chr9:141035500-141035501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3004668	chr9:141035508-141035509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs146676072	chr9:141035565-141035566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543760827	chr9:141035569-141035570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187518057	chr9:141035579-141035580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386739714	chr9:141035582-141035583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7852209	chr9:141035586-141035587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9942908	chr9:141035589-141035590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28658058	chr9:141035601-141035602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2872221	chr9:141035603-141035604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28592978	chr9:141035604-141035605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533350484	chr9:141035609-141035610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2078424	chr9:141035613-141035614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2313101	chr9:141035616-141035617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529499346	chr9:141035617-141035618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2872222	chr9:141035643-141035644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565725562	chr9:141035649-141035650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77673943	chr9:141035655-141035656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9942916	chr9:141035669-141035670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189111359	chr9:141035672-141035673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1984460	chr9:141035685-141035686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557947337	chr9:141035694-141035695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9942856	chr9:141035698-141035699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9942909	chr9:141035715-141035716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528234639	chr9:141035729-141035730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2313102	chr9:141035736-141035737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9942883	chr9:141035746-141035747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192090502	chr9:141035753-141035754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139202507	chr9:141035755-141035756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146012116	chr9:141035767-141035768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369014857	chr9:141035782-141035783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139910774	chr9:141035796-141035797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576313671	chr9:141035805-141035806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9942914	chr9:141035808-141035809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184891364	chr9:141035836-141035837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75244964	chr9:141035860-141035861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555746511	chr9:141035870-141035871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189789415	chr9:141035879-141035880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2509413	chr9:141035901-141035902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs115489568	chr9:141035935-141035936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377151476	chr9:141035939-141035940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563944217	chr9:141036013-141036014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533018627	chr9:141036034-141036035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370068233	chr9:141036046-141036047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148418360	chr9:141036073-141036074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563497274	chr9:141036074-141036075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373038457	chr9:141036081-141036082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561373434	chr9:141036091-141036092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549259225	chr9:141036141-141036142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
2	chr9:141037200-141037600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:141041800-141042400	Enhancers	K562	blood
4	chr9:141042200-141042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:141042200-141042400	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:141042200-141042400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
7	chr9:141042200-141042400	Active TSS	Placenta	Placenta
8	chr9:141042200-141042600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:141042200-141042600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr9:141042200-141042600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr9:141042200-141042600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:141042200-141042600	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr9:141042200-141042600	Enhancers	Ovary	ovary
14	chr9:141042200-141042600	Active TSS	HepG2	liver
15	chr9:141042400-141042600	Enhancers	Adipose Nuclei	Adipose
16	chr9:141042400-141042600	Flanking Active TSS	Placenta	Placenta
17	chr9:141042400-141044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:141042400-141044600	Weak transcription	K562	blood
19	chr9:141042600-141042800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr9:141042600-141042800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr9:141042600-141044200	Weak transcription	Placenta	Placenta
22	chr9:141042600-141044400	Weak transcription	HepG2	liver
23	chr9:141042600-141044600	Weak transcription	Adipose Nuclei	Adipose
24	chr9:141042600-141044600	Weak transcription	Ovary	ovary
25	chr9:141043800-141044400	Enhancers	Primary T cells from cord blood	blood
26	chr9:141044000-141044400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr9:141044200-141044400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:141044200-141044400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:141044200-141044400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:141044200-141044600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:141044200-141044600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:141044200-141044600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr9:141044200-141044600	Enhancers	Placenta	Placenta
34	chr9:141044200-141045200	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr9:141044200-141045200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr9:141044400-141044600	Active TSS	Primary B cells from cord blood	blood
37	chr9:141044400-141044600	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:141044400-141044600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr9:141044400-141044600	Active TSS	Fetal Intestine Large	intestine
40	chr9:141044400-141044600	Enhancers	Pancreas	Pancrea
41	chr9:141044400-141044800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:141044400-141044800	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr9:141044400-141044800	Active TSS	Primary T cells from cord blood	blood
44	chr9:141044400-141044800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:141044400-141044800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
46	chr9:141044400-141045000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:141044400-141045000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:141044400-141045000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr9:141044400-141045000	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr9:141044400-141045000	Active TSS	Right Ventricle	heart

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