Variant report

Variant	esv3347919
Chromosome Location	chr9:141038881-141043779
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	chr9:141042120-141042270	GM12869	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
3	CTCF	chr9:141042052-141042274	Kidney_OC	kidney:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
4	CTCF	chr9:141042084-141042205	GM19240	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
5	CTCF	chr9:141042080-141042230	HCT-116	colon:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
6	CTCF	chr9:141042124-141042358	HepG2	liver:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
7	CTCF	chr9:141042007-141042324	K562	blood:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
8	CTCF	chr9:141042072-141042288	NHEK	skin:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
9	CTCF	chr9:141042055-141042252	H1-hESC	embryonic stem cell:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
10	CTCF	chr9:141042180-141042330	HepG2	liver:	n/a	chr9:141042273-141042286
11	CTCF	chr9:141042160-141042310	HFF-Myc	foreskin:	n/a	chr9:141042273-141042286
12	CTCF	chr9:141042060-141042210	HEEpiC	esophagus:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
13	CTCF	chr9:141042063-141042215	HUVEC	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
14	CTCF	chr9:141041927-141042392	T-47D	breast:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
15	CTCF	chr9:141043512-141043567	GM10248	blood:	n/a	n/a
16	CTCF	chr9:141042099-141042279	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
17	CTCF	chr9:141042078-141042279	A549	lung:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
18	CTCF	chr9:141042060-141042210	K562	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
19	CTCF	chr9:141041920-141042070	HepG2	liver:	n/a	n/a
20	CTCF	chr9:141042160-141042310	HA-sp	spinal cord:	n/a	chr9:141042273-141042286
21	CTCF	chr9:141040374-141040393	GM20000	blood:	n/a	n/a
22	CTCF	chr9:141042085-141042265	Spleen_OC	spleen:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
23	CTCF	chr9:141042160-141042310	BE2_C	brain:	n/a	chr9:141042273-141042286
24	CTCF	chr9:141042060-141042210	AG09319	gingival:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
25	CTCF	chr9:141042123-141042162	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr9:141041991-141042102	HepG2	liver:	n/a	n/a
27	CTCF	chr9:141042080-141042230	RPTEC	kidney:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
28	CTCF	chr9:141042046-141042304	LNCaP	prostate:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
29	CTCF	chr9:141042160-141042310	SAEC	small airway:	n/a	chr9:141042273-141042286
30	CTCF	chr9:141043500-141043507	GM10248	blood:	n/a	n/a
31	CTCF	chr9:141042080-141042230	HRPEpiC	eye:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
32	CTCF	chr9:141042400-141042550	HEK293	kidney:	n/a	n/a
33	CTCF	chr9:141042100-141042250	GM12866	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
34	CTCF	chr9:141042095-141042273	MCF-7	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
35	CTCF	chr9:141042402-141042477	LNCaP	prostate:	n/a	n/a
36	CTCF	chr9:141042061-141042268	HepG2	liver:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
37	CTCF	chr9:141042040-141042190	AoAF	blood vessel:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
38	CTCF	chr9:141041954-141042390	HepG2	liver:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
39	CTCF	chr9:141042040-141042190	AG04449	skin:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
40	CTCF	chr9:141042146-141042201	GM19239	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
41	CTCF	chr9:141042180-141042330	HFF-Myc	foreskin:	n/a	chr9:141042273-141042286
42	CTCF	chr9:141041867-141042419	A549	lung:	n/a	chr9:141042273-141042286 chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
43	CTCF	chr9:141042100-141042250	WERI-Rb-1	eye:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
44	CTCF	chr9:141042060-141042210	GM12878	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
45	CTCF	chr9:141042180-141042330	HEK293	kidney:	n/a	chr9:141042273-141042286
46	CTCF	chr9:141042060-141042210	GM12873	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
47	CTCF	chr9:141042060-141042210	HMEC	breast:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
48	CTCF	chr9:141042120-141042270	GM12865	blood:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164
49	CTCF	chr9:141042180-141042330	GM12872	blood:	n/a	chr9:141042273-141042286
50	CTCF	chr9:141042048-141042277	Pancreas_OC	pancreas:	n/a	chr9:141042150-141042163 chr9:141042147-141042165 chr9:141042148-141042164

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141042453-141042503	AoSMC	blood vessel:	n/a
2	chr9:141042453-141042503	AG09309	skin:	n/a
3	chr9:141042453-141042503	CMK	blood:	n/a
4	chr9:141042453-141042503	NB4	blood:	n/a
5	chr9:141042435-141042485	NT2-D1	testis:	n/a
6	chr9:141042435-141042485	HCT-116	colon:	n/a
7	chr9:141042435-141042485	SK-N-SH	brain:	n/a
8	chr9:141042453-141042503	ECC-1	luminal epithelium:	n/a
9	chr9:141042453-141042503	PANC-1	pancreas:	n/a
10	chr9:141042453-141042503	ovcar-3	ovarian:	n/a
11	chr9:141042453-141042503	SK-N-SH	brain:	n/a
12	chr9:141042453-141042503	GM12891	blood:	n/a
13	chr9:141042453-141042503	SKMC	muscle:	n/a
14	chr9:141042435-141042485	GM12892	blood:	n/a
15	chr9:141042453-141042503	Hela-S3	cervix:	n/a
16	chr9:141042435-141042485	NHDF-neo	bronchial:	n/a
17	chr9:141042435-141042485	PANC-1	pancreas:	n/a
18	chr9:141042435-141042485	LNCaP	prostate:	n/a
19	chr9:141042453-141042503	HEK293	kidney:	embryo
20	chr9:141042435-141042485	NH-A	brain:	n/a
21	chr9:141042453-141042503	PFSK-1	brain:	n/a
22	chr9:141042435-141042485	NB4	blood:	n/a
23	chr9:141042435-141042485	A549	lung:	n/a
24	chr9:141042453-141042503	GM12892	blood:	n/a
25	chr9:141042435-141042485	HRE	kidney:	n/a
26	chr9:141042435-141042485	Caco-2	colon:	n/a
27	chr9:141042453-141042503	NT2-D1	testis:	n/a
28	chr9:141042453-141042503	H1-hESC	embryonic stem cell:	embryo
29	chr9:141042435-141042485	HNPCEpiC	eye:	n/a
30	chr9:141042453-141042503	ProgFib	skin:	n/a
31	chr9:141042435-141042485	GM06990	blood:	n/a
32	chr9:141042453-141042503	HRE	kidney:	n/a
33	chr9:141042435-141042485	IMR90	lung:	fetal
34	chr9:141042453-141042503	GM19239	blood:	n/a
35	chr9:141042435-141042485	AoSMC	blood vessel:	n/a
36	chr9:141042435-141042485	H1-hESC	embryonic stem cell:	embryo
37	chr9:141042453-141042503	HCF	heart:	n/a
38	chr9:141042453-141042503	Caco-2	colon:	n/a
39	chr9:141042435-141042485	PFSK-1	brain:	n/a
40	chr9:141042435-141042485	GM12878	blood:	n/a
41	chr9:141042453-141042503	SK-N-MC	brain:	n/a
42	chr9:141042435-141042485	SAEC	small airway:	n/a
43	chr9:141042435-141042485	T-47D	breast:	n/a
44	chr9:141042453-141042503	HepG2	liver:	n/a
45	chr9:141042453-141042503	GM06990	blood:	n/a
46	chr9:141042453-141042503	HUVEC	blood vessel:	n/a
47	chr9:141042453-141042503	AG10803	skin:	n/a
48	chr9:141042435-141042485	Jurkat	blood:	n/a
49	chr9:141042435-141042485	GM12891	blood:	n/a
50	chr9:141042435-141042485	AG04449	skin:	fetal

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

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

Extended variants
information (count: 188 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77763730	chr9:141038909-141038910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185934099	chr9:141038918-141038919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3004667	chr9:141038980-141038981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3004666	chr9:141039008-141039009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564889764	chr9:141039014-141039015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564115491	chr9:141039025-141039026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71387890	chr9:141039049-141039050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371772310	chr9:141039050-141039051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374764321	chr9:141039168-141039169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369091124	chr9:141039192-141039193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530658578	chr9:141039225-141039226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183451248	chr9:141039241-141039242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145535313	chr9:141039251-141039252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550456526	chr9:141039414-141039415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560882464	chr9:141039434-141039435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529954157	chr9:141039435-141039436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546252169	chr9:141039443-141039444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566467710	chr9:141039451-141039452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113939034	chr9:141039513-141039514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190774596	chr9:141039567-141039568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569782544	chr9:141039661-141039662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187683700	chr9:141039695-141039696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139028869	chr9:141039716-141039717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148739389	chr9:141039724-141039725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138109108	chr9:141039729-141039730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3004665	chr9:141039748-141039749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182601171	chr9:141039770-141039771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142751168	chr9:141039780-141039781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192240480	chr9:141039781-141039782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528550323	chr9:141039790-141039791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147363580	chr9:141039798-141039799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139439615	chr9:141039819-141039820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571627196	chr9:141039832-141039833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144127214	chr9:141039838-141039839	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs73668513	chr9:141039868-141039869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114132471	chr9:141039869-141039870	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs375097762	chr9:141039916-141039917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140613185	chr9:141039953-141039954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149052387	chr9:141039959-141039960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145920814	chr9:141039963-141039964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555283553	chr9:141039965-141039966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199846933	chr9:141040007-141040008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575149857	chr9:141040018-141040019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144276194	chr9:141040031-141040032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146704813	chr9:141040036-141040037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140276067	chr9:141040037-141040038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141238506	chr9:141040056-141040057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202078580	chr9:141040074-141040075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553832651	chr9:141040135-141040136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376335540	chr9:141040145-141040146	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: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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