Variant report

Variant	nsv972813
Chromosome Location	chr9:141088744-141121627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:559)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:141118278-141118550	GM12878	blood:	n/a	chr9:141118380-141118391
2	BATF	chr9:141114113-141114462	GM12878	blood:	n/a	n/a
3	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
4	BATF	chr9:141121222-141121626	GM12878	blood:	n/a	n/a
5	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
6	BATF	chr9:141113007-141113243	GM12878	blood:	n/a	n/a
7	BATF	chr9:141115173-141115405	GM12878	blood:	n/a	n/a
8	BATF	chr9:141112985-141113342	GM12878	blood:	n/a	n/a
9	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
10	BATF	chr9:141118240-141118564	GM12878	blood:	n/a	chr9:141118380-141118391
11	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:141114024-141114388	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:141118215-141118496	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:141114056-141114418	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:141117472-141117648	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:141115227-141115417	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:141121270-141121610	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:141115303-141115593	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:141118206-141118545	HepG2	liver:	n/a	n/a
20	BHLHE40	chr9:141121159-141121509	HepG2	liver:	n/a	n/a
21	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
22	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
23	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
24	CTCF	chr9:141112302-141112330	GM10248	blood:	n/a	n/a
25	CTCF	chr9:141102400-141102550	AG09319	gingival:	n/a	n/a
26	CTCF	chr9:141102440-141102590	RPTEC	kidney:	n/a	n/a
27	CTCF	chr9:141111220-141111370	HCT-116	colon:	n/a	n/a
28	CTCF	chr9:141111343-141111588	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr9:141120871-141121901	A549	lung:	n/a	n/a
30	CTCF	chr9:141102380-141102530	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr9:141102400-141102550	HepG2	liver:	n/a	n/a
32	CTCF	chr9:141099799-141100030	K562	blood:	n/a	chr9:141099937-141099955
33	CTCF	chr9:141111365-141111582	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:141102380-141102530	GM12868	blood:	n/a	n/a
35	CTCF	chr9:141121319-141121534	GM12892	blood:	n/a	n/a
36	CTCF	chr9:141102288-141102604	K562	blood:	n/a	n/a
37	CTCF	chr9:141102400-141102550	GM12875	blood:	n/a	n/a
38	CTCF	chr9:141111365-141111588	GM13977	blood:	n/a	n/a
39	CTCF	chr9:141102140-141102290	K562	blood:	n/a	chr9:141102215-141102228
40	CTCF	chr9:141102342-141102525	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr9:141102420-141102570	GM12867	blood:	n/a	n/a
42	CTCF	chr9:141102420-141102570	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr9:141102369-141102461	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr9:141111170-141111867	K562	blood:	n/a	n/a
45	CTCF	chr9:141102360-141102510	AG10803	skin:	n/a	n/a
46	CTCF	chr9:141102440-141102590	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr9:141102400-141102550	GM12871	blood:	n/a	n/a
48	CTCF	chr9:141102440-141102590	GM12878	blood:	n/a	n/a
49	CTCF	chr9:141102384-141102488	GM20000	blood:	n/a	n/a
50	CTCF	chr9:141121242-141121578	Gliobla	brain:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141105202-141105252	LNCaP	prostate:	n/a
2	chr9:141109427-141109477	MCF10A-Er-Src	breast:	n/a
3	chr9:141109427-141109477	CMK	blood:	n/a
4	chr9:141111141-141111191	HCM	heart:	n/a
5	chr9:141105974-141106024	HMEC	breast:	n/a
6	chr9:141111396-141111446	HUVEC	blood vessel:	n/a
7	chr9:141111396-141111446	AG09319	gingival:	n/a
8	chr9:141105974-141106024	BE2_C	brain:	n/a
9	chr9:141105202-141105252	HCPEpiC	choroid plexus:	n/a
10	chr9:141105202-141105252	NH-A	brain:	n/a
11	chr9:141111396-141111446	HEK293	kidney:	embryo
12	chr9:141109427-141109477	HCF	heart:	n/a
13	chr9:141105202-141105252	ProgFib	skin:	n/a
14	chr9:141111141-141111191	HRCEpiC	kidney:	n/a
15	chr9:141111396-141111446	HEEpiC	esophagus:	n/a
16	chr9:141105974-141106024	HRCEpiC	kidney:	n/a
17	chr9:141109427-141109477	HL-60	blood:	n/a
18	chr9:141109427-141109477	NT2-D1	testis:	n/a
19	chr9:141105974-141106024	HNPCEpiC	eye:	n/a
20	chr9:141109427-141109477	H1-hESC	embryonic stem cell:	embryo
21	chr9:141105202-141105252	SAEC	small airway:	n/a
22	chr9:141105202-141105252	GM12878	blood:	n/a
23	chr9:141109427-141109477	PANC-1	pancreas:	n/a
24	chr9:141111396-141111446	SK-N-MC	brain:	n/a
25	chr9:141105974-141106024	SK-N-SH	brain:	n/a
26	chr9:141111396-141111446	HIPEpiC	eye:	n/a
27	chr9:141111141-141111191	HUVEC	blood vessel:	n/a
28	chr9:141105202-141105252	HCF	heart:	n/a
29	chr9:141105202-141105252	Hela-S3	cervix:	n/a
30	chr9:141111141-141111191	SK-N-MC	brain:	n/a
31	chr9:141105202-141105252	HCM	heart:	n/a
32	chr9:141111141-141111191	Hepatocyte	liver:	n/a
33	chr9:141111141-141111191	HRPEpiC	eye:	n/a
34	chr9:141111396-141111446	GM12892	blood:	n/a
35	chr9:141111396-141111446	IMR90	lung:	fetal
36	chr9:141109427-141109477	HRE	kidney:	n/a
37	chr9:141111396-141111446	BE2_C	brain:	n/a
38	chr9:141111396-141111446	AG04450	lung:	fetal
39	chr9:141109427-141109477	BE2_C	brain:	n/a
40	chr9:141111396-141111446	HCF	heart:	n/a
41	chr9:141105202-141105252	HEEpiC	esophagus:	n/a
42	chr9:141109427-141109477	HRPEpiC	eye:	n/a
43	chr9:141109427-141109477	SK-N-SH	brain:	n/a
44	chr9:141111141-141111191	HEK293	kidney:	embryo
45	chr9:141111141-141111191	T-47D	breast:	n/a
46	chr9:141109427-141109477	GM12878	blood:	n/a
47	chr9:141105202-141105252	HepG2	liver:	n/a
48	chr9:141111396-141111446	NHBE	bronchial:	n/a
49	chr9:141105974-141106024	GM06990	blood:	n/a
50	chr9:141111396-141111446	SK-N-SH	brain:	n/a

No data

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

Extended variants
information (count: 369 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368549118	chr9:141088800-141088801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574258439	chr9:141088825-141088826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551828947	chr9:141088828-141088829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371504869	chr9:141088837-141088838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147053988	chr9:141088895-141088896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543259358	chr9:141088896-141088897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376226633	chr9:141088898-141088899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560076189	chr9:141088907-141088908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189187737	chr9:141088913-141088914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181489376	chr9:141088918-141088919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11794869	chr9:141088934-141088935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367813662	chr9:141088949-141088950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551484297	chr9:141088953-141088954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565319713	chr9:141088960-141088961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530818101	chr9:141088971-141088972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551003684	chr9:141088994-141088995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544249788	chr9:141095713-141095714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561068028	chr9:141095714-141095715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529018861	chr9:141095751-141095752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548940995	chr9:141095762-141095763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554590634	chr9:141097918-141097919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574786067	chr9:141097919-141097920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs540321365	chr9:141097925-141097926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146504709	chr9:141097926-141097927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572918642	chr9:141097934-141097935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201622665	chr9:141097939-141097940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545259600	chr9:141097968-141097969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546010074	chr9:141097988-141097989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565157734	chr9:141098001-141098002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530877643	chr9:141098012-141098013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375562523	chr9:141098058-141098059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544220500	chr9:141098069-141098070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs560678838	chr9:141098074-141098075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529692545	chr9:141098087-141098088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546348310	chr9:141098088-141098089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566576177	chr9:141098163-141098164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532580834	chr9:141098205-141098206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368854051	chr9:141098206-141098207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs552380363	chr9:141098215-141098216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555057329	chr9:141098216-141098217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184375808	chr9:141098229-141098230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150139962	chr9:141098254-141098255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554846415	chr9:141098291-141098292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374911830	chr9:141098303-141098304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs10780204	chr9:141098344-141098345	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs534215261	chr9:141098365-141098366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376412533	chr9:141098386-141098387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs137928915	chr9:141098428-141098429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs189946769	chr9:141098468-141098469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181584241	chr9:141098479-141098480	Inactive region	TF binding 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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:141088800-141089000	Enhancers	K562	blood
2	chr9:141099600-141100400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr9:141099600-141106200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr9:141099800-141103600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr9:141100400-141100800	Enhancers	Fetal Muscle Leg	muscle
6	chr9:141100400-141101600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr9:141101600-141103800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:141103600-141104800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:141103800-141104200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:141104200-141104800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr9:141104200-141105000	Enhancers	NHEK	skin
12	chr9:141104800-141105000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:141104800-141105200	Enhancers	HMEC	breast
14	chr9:141104800-141105200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr9:141105000-141105200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr9:141105000-141107200	Weak transcription	NHEK	skin
17	chr9:141105200-141105400	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr9:141105200-141107200	Weak transcription	HMEC	breast
19	chr9:141105200-141107200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr9:141105400-141107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:141106200-141107200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr9:141107200-141107400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr9:141107200-141108200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr9:141107200-141108200	Enhancers	HMEC	breast
25	chr9:141107200-141108400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:141107200-141108400	Enhancers	NHEK	skin
27	chr9:141107400-141108000	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr9:141107400-141108000	Active TSS	Esophagus	oesophagus
29	chr9:141107400-141108200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:141107400-141108400	Active TSS	Primary B cells from cord blood	blood
31	chr9:141107800-141108200	Active TSS	HepG2	liver
32	chr9:141107800-141108200	Enhancers	K562	blood
33	chr9:141108000-141108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr9:141108000-141110800	Weak transcription	Esophagus	oesophagus
35	chr9:141108200-141108400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr9:141108400-141109000	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr9:141108400-141109200	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr9:141108400-141109600	Weak transcription	NHEK	skin
39	chr9:141108400-141110000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr9:141109000-141109400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr9:141109200-141109400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr9:141109400-141109600	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr9:141109400-141109800	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr9:141109600-141110000	Enhancers	NHEK	skin
45	chr9:141109600-141110200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr9:141109800-141110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr9:141110000-141112000	Weak transcription	NHEK	skin
48	chr9:141110200-141110800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr9:141110800-141111000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr9:141110800-141111000	Enhancers	Esophagus	oesophagus

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