Variant report

Variant	esv3412824
Chromosome Location	chr9:141041281-141043679
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	CBX3	chr9:141041994-141042355	K562	blood:	n/a	n/a
2	CTCF	chr9:141042061-141042268	HepG2	liver:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
3	CTCF	chr9:141042080-141042230	HCT-116	colon:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
4	CTCF	chr9:141042160-141042310	HRE	kidney:	n/a	chr9:141042273-141042286
5	CTCF	chr9:141041927-141042392	T-47D	breast:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
6	CTCF	chr9:141041920-141042070	HepG2	liver:	n/a	n/a
7	CTCF	chr9:141041888-141042528	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
8	CTCF	chr9:141042100-141042250	HCM	heart:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
9	CTCF	chr9:141042100-141042250	WERI-Rb-1	eye:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
10	CTCF	chr9:141042063-141042215	HUVEC	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
11	CTCF	chr9:141042180-141042330	HEK293	kidney:	n/a	chr9:141042273-141042286
12	CTCF	chr9:141042080-141042230	GM12872	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
13	CTCF	chr9:141042040-141042190	AoAF	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
14	CTCF	chr9:141042080-141042230	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
15	CTCF	chr9:141042160-141042310	HA-sp	spinal cord:	n/a	chr9:141042273-141042286
16	CTCF	chr9:141042060-141042210	K562	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
17	CTCF	chr9:141042160-141042310	GM12868	blood:	n/a	chr9:141042273-141042286
18	CTCF	chr9:141042060-141042210	GM12873	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
19	CTCF	chr9:141042080-141042230	RPTEC	kidney:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
20	CTCF	chr9:141042160-141042310	SAEC	small airway:	n/a	chr9:141042273-141042286
21	CTCF	chr9:141042078-141042276	GM13977	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
22	CTCF	chr9:141042160-141042310	HVMF	connective:	n/a	chr9:141042273-141042286
23	CTCF	chr9:141042048-141042213	GM12878	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
24	CTCF	chr9:141041926-141042595	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
25	CTCF	chr9:141042120-141042270	GM12869	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
26	CTCF	chr9:141042099-141042279	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
27	CTCF	chr9:141042180-141042330	HepG2	liver:	n/a	chr9:141042273-141042286
28	CTCF	chr9:141042091-141042238	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
29	CTCF	chr9:141042035-141042206	Lung_OC	lung:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
30	CTCF	chr9:141042004-141042463	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
31	CTCF	chr9:141042080-141042230	NHLF	lung:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
32	CTCF	chr9:141042007-141042324	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
33	CTCF	chr9:141042200-141042350	GM12873	blood:	n/a	chr9:141042273-141042286
34	CTCF	chr9:141042060-141042210	AG10803	skin:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
35	CTCF	chr9:141042100-141042250	SK-N-SH_RA	brain:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
36	CTCF	chr9:141042060-141042210	GM12875	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
37	CTCF	chr9:141042104-141042225	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
38	CTCF	chr9:141042000-141042323	A549	lung:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
39	CTCF	chr9:141042072-141042282	Fibrobl	skin:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
40	CTCF	chr9:141042084-141042205	GM19240	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
41	CTCF	chr9:141042078-141042279	A549	lung:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
42	CTCF	chr9:141042180-141042330	HFF-Myc	foreskin:	n/a	chr9:141042273-141042286
43	CTCF	chr9:141042400-141042550	HEK293	kidney:	n/a	n/a
44	CTCF	chr9:141042060-141042210	HEEpiC	esophagus:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
45	CTCF	chr9:141042040-141042190	HUVEC	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
46	CTCF	chr9:141042124-141042358	HepG2	liver:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
47	CTCF	chr9:141042035-141042253	GM10248	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
48	CTCF	chr9:141042046-141042304	LNCaP	prostate:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
49	CTCF	chr9:141042080-141042230	A549	lung:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
50	CTCF	chr9:141042077-141042264	GM13976	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141042453-141042503	AG09309	skin:	n/a
2	chr9:141042435-141042485	SK-N-SH_RA	brain:	n/a
3	chr9:141042453-141042503	AG09309	skin:	n/a
4	chr9:141042435-141042485	SK-N-SH_RA	brain:	n/a
5	chr9:141042453-141042503	A549	lung:	n/a
6	chr9:141042435-141042485	ECC-1	luminal epithelium:	n/a
7	chr9:141042435-141042485	LNCaP	prostate:	n/a
8	chr9:141042435-141042485	PANC-1	pancreas:	n/a
9	chr9:141042453-141042503	T-47D	breast:	n/a
10	chr9:141042435-141042485	HMEC	breast:	n/a
11	chr9:141042453-141042503	HNPCEpiC	eye:	n/a
12	chr9:141042453-141042503	MCF-7	breast:	n/a
13	chr9:141042453-141042503	NHBE	bronchial:	n/a
14	chr9:141042435-141042485	GM19239	blood:	n/a
15	chr9:141042435-141042485	HIPEpiC	eye:	n/a
16	chr9:141042453-141042503	IMR90	lung:	fetal
17	chr9:141042435-141042485	MCF10A-Er-Src	breast:	n/a
18	chr9:141042435-141042485	H1-hESC	embryonic stem cell:	embryo
19	chr9:141042453-141042503	K562	blood:	n/a
20	chr9:141042435-141042485	CMK	blood:	n/a
21	chr9:141042453-141042503	HL-60	blood:	n/a
22	chr9:141042453-141042503	HEEpiC	esophagus:	n/a
23	chr9:141042435-141042485	SKMC	muscle:	n/a
24	chr9:141042435-141042485	NB4	blood:	n/a
25	chr9:141042453-141042503	U87	brain:	n/a
26	chr9:141042453-141042503	HCF	heart:	n/a
27	chr9:141042435-141042485	Hepatocyte	liver:	n/a
28	chr9:141042453-141042503	HRCEpiC	kidney:	n/a
29	chr9:141042453-141042503	LNCaP	prostate:	n/a
30	chr9:141042435-141042485	HPAEpiC	pulmonary alveolar:	n/a
31	chr9:141042453-141042503	NH-A	brain:	n/a
32	chr9:141042435-141042485	AG09319	gingival:	n/a
33	chr9:141042435-141042485	IMR90	lung:	fetal
34	chr9:141042435-141042485	HL-60	blood:	n/a
35	chr9:141042435-141042485	HepG2	liver:	n/a
36	chr9:141042435-141042485	HNPCEpiC	eye:	n/a
37	chr9:141042435-141042485	HRPEpiC	eye:	n/a
38	chr9:141042453-141042503	Hela-S3	cervix:	n/a
39	chr9:141042453-141042503	SKMC	muscle:	n/a
40	chr9:141042453-141042503	HEK293	kidney:	embryo
41	chr9:141042453-141042503	HPAEpiC	pulmonary alveolar:	n/a
42	chr9:141042453-141042503	PrEC	prostate:	n/a
43	chr9:141042453-141042503	SK-N-MC	brain:	n/a
44	chr9:141042453-141042503	HRE	kidney:	n/a
45	chr9:141042453-141042503	ovcar-3	ovarian:	n/a
46	chr9:141042435-141042485	K562	blood:	n/a
47	chr9:141042453-141042503	RPTEC	kidney:	n/a
48	chr9:141042435-141042485	RPTEC	kidney:	n/a
49	chr9:141042435-141042485	HRCEpiC	kidney:	n/a
50	chr9:141042435-141042485	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:122219..122922-chr9:141042181..141042681,2	MCF-7	breast:
2	chr10:122225..122779-chr9:141041705..141042205,2	MCF-7	breast:

Variant related genes	Relation type
TUBBP5	TF binding region
TUBBP5	CpG island

Extended variants
information (count: 97 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201949063	chr9:141041286-141041287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554488987	chr9:141041353-141041354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113319107	chr9:141041409-141041410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368415475	chr9:141041464-141041465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371433213	chr9:141041498-141041499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2507150	chr9:141041528-141041529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369403120	chr9:141041597-141041598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201494169	chr9:141041659-141041660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539849312	chr9:141041680-141041681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572694508	chr9:141041732-141041733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371229497	chr9:141041733-141041734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573961495	chr9:141041761-141041762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543328305	chr9:141041764-141041765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2507149	chr9:141041956-141041957	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559643696	chr9:141041983-141041984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112284895	chr9:141041987-141041988	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556154643	chr9:141042030-141042031	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150098581	chr9:141042052-141042053	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138372924	chr9:141042060-141042061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs554304719	chr9:141042081-141042082	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574618372	chr9:141042086-141042087	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112113487	chr9:141042120-141042121	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7855994	chr9:141042131-141042132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
24	rs373316145	chr9:141042181-141042182	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530873104	chr9:141042187-141042188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs184709162	chr9:141042188-141042189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs2507148	chr9:141042201-141042202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75763938	chr9:141042224-141042225	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs76947912	chr9:141042233-141042234	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs531994310	chr9:141042260-141042261	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536126602	chr9:141042263-141042264	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs545779125	chr9:141042286-141042287	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9969703	chr9:141042287-141042288	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562487773	chr9:141042317-141042318	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs75461316	chr9:141042318-141042319	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2507147	chr9:141042324-141042325	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs76752170	chr9:141042331-141042332	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs371411886	chr9:141042365-141042366	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548314203	chr9:141042376-141042377	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113050339	chr9:141042394-141042395	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568550800	chr9:141042395-141042396	Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs9410082	chr9:141042410-141042411	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9410083	chr9:141042412-141042413	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117292644	chr9:141042470-141042471	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs9410171	chr9:141042489-141042490	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs55950355	chr9:141042492-141042493	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
47	rs71510897	chr9:141042531-141042532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569725993	chr9:141042565-141042566	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs71485043	chr9:141042644-141042645	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs74880991	chr9:141042685-141042686	Weak transcription Bivalent Enhancer	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
2	chr9:141041800-141042400	Enhancers	K562	blood
3	chr9:141042200-141042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:141042200-141042400	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:141042200-141042400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
6	chr9:141042200-141042400	Active TSS	Placenta	Placenta
7	chr9:141042200-141042600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:141042200-141042600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:141042200-141042600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr9:141042200-141042600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:141042200-141042600	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr9:141042200-141042600	Enhancers	Ovary	ovary
13	chr9:141042200-141042600	Active TSS	HepG2	liver
14	chr9:141042400-141042600	Enhancers	Adipose Nuclei	Adipose
15	chr9:141042400-141042600	Flanking Active TSS	Placenta	Placenta
16	chr9:141042400-141044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:141042400-141044600	Weak transcription	K562	blood
18	chr9:141042600-141042800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr9:141042600-141042800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr9:141042600-141044200	Weak transcription	Placenta	Placenta
21	chr9:141042600-141044400	Weak transcription	HepG2	liver
22	chr9:141042600-141044600	Weak transcription	Adipose Nuclei	Adipose
23	chr9:141042600-141044600	Weak transcription	Ovary	ovary

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