Variant report

Variant	esv33178
Chromosome Location	chr9:141073874-141122084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:615)
CpG islands
(count:306)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
2	BATF	chr9:141082701-141083207	GM12878	blood:	n/a	chr9:141082765-141082773
3	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
4	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
5	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
6	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
7	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
8	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
9	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
10	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
11	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
12	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
20	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
21	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
22	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
23	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
24	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
25	CTCF	chr9:141111284-141111705	A549	lung:	n/a	n/a
26	CTCF	chr9:141121299-141121527	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:141102420-141102570	HepG2	liver:	n/a	n/a
28	CTCF	chr9:141111387-141111551	Lung_OC	lung:	n/a	n/a
29	CTCF	chr9:141112302-141112330	GM10248	blood:	n/a	n/a
30	CTCF	chr9:141121285-141121540	GM10266	blood:	n/a	n/a
31	CTCF	chr9:141102420-141102570	RPTEC	kidney:	n/a	n/a
32	CTCF	chr9:141102440-141102590	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr9:141111220-141111370	HepG2	liver:	n/a	n/a
34	CTCF	chr9:141121351-141121535	GM19239	blood:	n/a	n/a
35	CTCF	chr9:141102274-141102583	A549	lung:	n/a	n/a
36	CTCF	chr9:141102420-141102570	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr9:141102420-141102570	HEK293	kidney:	n/a	n/a
38	CTCF	chr9:141121323-141121535	NHEK	skin:	n/a	n/a
39	CTCF	chr9:141121089-141121719	K562	blood:	n/a	n/a
40	CTCF	chr9:141102420-141102570	GM12867	blood:	n/a	n/a
41	CTCF	chr9:141121291-141121555	LNCaP	prostate:	n/a	n/a
42	CTCF	chr9:141102320-141102470	AG09309	skin:	n/a	n/a
43	CTCF	chr9:141102440-141102590	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr9:141102198-141102593	K562	blood:	n/a	chr9:141102215-141102228
45	CTCF	chr9:141121282-141121536	GM19240	blood:	n/a	n/a
46	CTCF	chr9:141117468-141117809	A549	lung:	n/a	n/a
47	CTCF	chr9:141102420-141102570	GM06990	blood:	n/a	n/a
48	CTCF	chr9:141117463-141117710	A549	lung:	n/a	n/a
49	CTCF	chr9:141121275-141121556	Medullo	brain:	n/a	n/a
50	CTCF	chr9:141102440-141102590	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141111141-141111191	A549	lung:	n/a
2	chr9:141111141-141111191	A549	lung:	n/a
3	chr9:141109427-141109477	GM12892	blood:	n/a
4	chr9:141109427-141109477	ovcar-3	ovarian:	n/a
5	chr9:141105974-141106024	Hela-S3	cervix:	n/a
6	chr9:141111141-141111191	BE2_C	brain:	n/a
7	chr9:141111141-141111191	GM06990	blood:	n/a
8	chr9:141109427-141109477	BE2_C	brain:	n/a
9	chr9:141111141-141111191	NB4	blood:	n/a
10	chr9:141111396-141111446	BJ	skin:	n/a
11	chr9:141105202-141105252	AG09319	gingival:	n/a
12	chr9:141105974-141106024	NHBE	bronchial:	n/a
13	chr9:141111396-141111446	AG04449	skin:	fetal
14	chr9:141105202-141105252	HCPEpiC	choroid plexus:	n/a
15	chr9:141109427-141109477	AG04449	skin:	fetal
16	chr9:141111396-141111446	NT2-D1	testis:	n/a
17	chr9:141105974-141106024	HCM	heart:	n/a
18	chr9:141111396-141111446	MCF-7	breast:	n/a
19	chr9:141105202-141105252	BJ	skin:	n/a
20	chr9:141111141-141111191	GM12891	blood:	n/a
21	chr9:141111396-141111446	AoSMC	blood vessel:	n/a
22	chr9:141105202-141105252	BE2_C	brain:	n/a
23	chr9:141109427-141109477	K562	blood:	n/a
24	chr9:141111396-141111446	BE2_C	brain:	n/a
25	chr9:141109427-141109477	HCM	heart:	n/a
26	chr9:141109427-141109477	NT2-D1	testis:	n/a
27	chr9:141105202-141105252	HRPEpiC	eye:	n/a
28	chr9:141105202-141105252	AG10803	skin:	n/a
29	chr9:141109427-141109477	LNCaP	prostate:	n/a
30	chr9:141105974-141106024	NHDF-neo	bronchial:	n/a
31	chr9:141111396-141111446	HMEC	breast:	n/a
32	chr9:141105202-141105252	HepG2	liver:	n/a
33	chr9:141109427-141109477	A549	lung:	n/a
34	chr9:141111141-141111191	AG10803	skin:	n/a
35	chr9:141105974-141106024	K562	blood:	n/a
36	chr9:141105974-141106024	GM06990	blood:	n/a
37	chr9:141105974-141106024	ECC-1	luminal epithelium:	n/a
38	chr9:141105202-141105252	GM06990	blood:	n/a
39	chr9:141105974-141106024	BE2_C	brain:	n/a
40	chr9:141105202-141105252	H1-hESC	embryonic stem cell:	embryo
41	chr9:141111141-141111191	HRE	kidney:	n/a
42	chr9:141105202-141105252	HCM	heart:	n/a
43	chr9:141105202-141105252	PFSK-1	brain:	n/a
44	chr9:141109427-141109477	AG10803	skin:	n/a
45	chr9:141111141-141111191	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:141105974-141106024	SK-N-MC	brain:	n/a
47	chr9:141105974-141106024	AoSMC	blood vessel:	n/a
48	chr9:141105974-141106024	AG04449	skin:	fetal
49	chr9:141105974-141106024	AG10803	skin:	n/a
50	chr9:141111141-141111191	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:

No data

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

Extended variants
information (count: 585 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368922933	chr9:141073880-141073881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76052439	chr9:141073904-141073905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2507124	chr9:141073930-141073931	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3004649	chr9:141073953-141073954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567956422	chr9:141073956-141073957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369763839	chr9:141073976-141073977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371280250	chr9:141074062-141074063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373922638	chr9:141074067-141074068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529993520	chr9:141074078-141074079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375998321	chr9:141074087-141074088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2507123	chr9:141074094-141074095	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2925490	chr9:141074112-141074113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566839532	chr9:141074137-141074138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538778871	chr9:141074143-141074144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377429078	chr9:141074148-141074149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371066145	chr9:141074151-141074152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373644240	chr9:141074186-141074187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375640381	chr9:141074192-141074193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571151751	chr9:141074202-141074203	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2434910	chr9:141074248-141074249	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374015794	chr9:141074269-141074270	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536858664	chr9:141074271-141074272	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs58234624	chr9:141074272-141074273	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs372313412	chr9:141074274-141074275	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573901637	chr9:141074276-141074277	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542224960	chr9:141074286-141074287	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386739721	chr9:141074309-141074310	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7864362	chr9:141074310-141074311	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374323864	chr9:141074311-141074312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369895879	chr9:141074326-141074327	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201555228	chr9:141074335-141074336	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572952168	chr9:141074336-141074337	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199791711	chr9:141074338-141074339	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545169632	chr9:141074340-141074341	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185021559	chr9:141074363-141074364	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368774266	chr9:141074365-141074366	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565467935	chr9:141074393-141074394	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531085147	chr9:141074395-141074396	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544820199	chr9:141074419-141074420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561392680	chr9:141074436-141074437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530436139	chr9:141074437-141074438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143649652	chr9:141074473-141074474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113193285	chr9:141074497-141074498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566906561	chr9:141074501-141074502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532463775	chr9:141074550-141074551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185798214	chr9:141074568-141074569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569014759	chr9:141074576-141074577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536823764	chr9:141074609-141074610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80100544	chr9:141074617-141074618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550767989	chr9:141074621-141074622	Inactive region	Chromatin interactive region	1 gene(s)	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:141074200-141074400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:141076600-141077200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:141076600-141077400	Enhancers	HMEC	breast
4	chr9:141076600-141077400	Enhancers	NHEK	skin
5	chr9:141081400-141081600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr9:141081400-141081600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr9:141081400-141081600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:141087400-141087600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:141087600-141087800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:141088800-141089000	Enhancers	K562	blood
11	chr9:141099600-141100400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr9:141099600-141106200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr9:141099800-141103600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr9:141100400-141100800	Enhancers	Fetal Muscle Leg	muscle
15	chr9:141100400-141101600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr9:141101600-141103800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr9:141103600-141104800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:141103800-141104200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr9:141104200-141104800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:141104200-141105000	Enhancers	NHEK	skin
21	chr9:141104800-141105000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr9:141104800-141105200	Enhancers	HMEC	breast
23	chr9:141104800-141105200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:141105000-141105200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr9:141105000-141107200	Weak transcription	NHEK	skin
26	chr9:141105200-141105400	Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr9:141105200-141107200	Weak transcription	HMEC	breast
28	chr9:141105200-141107200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr9:141105400-141107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr9:141106200-141107200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:141107200-141107400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr9:141107200-141108200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr9:141107200-141108200	Enhancers	HMEC	breast
34	chr9:141107200-141108400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr9:141107200-141108400	Enhancers	NHEK	skin
36	chr9:141107400-141108000	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:141107400-141108000	Active TSS	Esophagus	oesophagus
38	chr9:141107400-141108200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:141107400-141108400	Active TSS	Primary B cells from cord blood	blood
40	chr9:141107800-141108200	Active TSS	HepG2	liver
41	chr9:141107800-141108200	Enhancers	K562	blood
42	chr9:141108000-141108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr9:141108000-141110800	Weak transcription	Esophagus	oesophagus
44	chr9:141108200-141108400	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr9:141108400-141109000	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr9:141108400-141109200	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr9:141108400-141109600	Weak transcription	NHEK	skin
48	chr9:141108400-141110000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr9:141109000-141109400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr9:141109200-141109400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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