Variant report

Variant	esv18449
Chromosome Location	chr9:141087091-141111451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:141107515-141107806	GM12878	blood:	n/a	n/a
2	BATF	chr9:141107608-141107779	GM12878	blood:	n/a	n/a
3	CBX3	chr9:141111198-141111891	K562	blood:	n/a	n/a
4	CBX3	chr9:141111324-141111635	K562	blood:	n/a	n/a
5	CEBPD	chr9:141088557-141088959	K562	blood:	n/a	n/a
6	CTCF	chr9:141102399-141102507	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:141102400-141102550	GM12873	blood:	n/a	n/a
8	CTCF	chr9:141102400-141102550	GM12875	blood:	n/a	n/a
9	CTCF	chr9:141102380-141102530	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr9:141102440-141102590	RPTEC	kidney:	n/a	n/a
11	CTCF	chr9:141111220-141111370	HepG2	liver:	n/a	n/a
12	CTCF	chr9:141102378-141102524	HepG2	liver:	n/a	n/a
13	CTCF	chr9:141102384-141102488	GM20000	blood:	n/a	n/a
14	CTCF	chr9:141102380-141102530	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr9:141099799-141100030	K562	blood:	n/a	chr9:141099937-141099955
16	CTCF	chr9:141102320-141102470	AG09309	skin:	n/a	n/a
17	CTCF	chr9:141102440-141102590	GM12869	blood:	n/a	n/a
18	CTCF	chr9:141102360-141102510	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr9:141111343-141111588	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr9:141102349-141102533	Gliobla	brain:	n/a	n/a
21	CTCF	chr9:141111291-141111683	A549	lung:	n/a	n/a
22	CTCF	chr9:141102173-141102658	A549	lung:	n/a	chr9:141102215-141102228
23	CTCF	chr9:141102320-141102470	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr9:141102393-141102507	GM13976	blood:	n/a	n/a
25	CTCF	chr9:141102400-141102550	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr9:141102369-141102461	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr9:141102440-141102590	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr9:141102343-141102614	HCT-116	colon:	n/a	n/a
29	CTCF	chr9:141102400-141102550	HMF	breast:	n/a	n/a
30	CTCF	chr9:141111284-141111705	A549	lung:	n/a	n/a
31	CTCF	chr9:141102420-141102570	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr9:141102335-141102569	A549	lung:	n/a	n/a
33	CTCF	chr9:141102400-141102550	HEK293	kidney:	n/a	n/a
34	CTCF	chr9:141102400-141102550	NHEK	skin:	n/a	n/a
35	CTCF	chr9:141102386-141102505	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr9:141102420-141102570	HepG2	liver:	n/a	n/a
37	CTCF	chr9:141111255-141111768	K562	blood:	n/a	n/a
38	CTCF	chr9:141102440-141102590	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr9:141102420-141102570	Caco-2	colon:	n/a	n/a
40	CTCF	chr9:141102140-141102290	K562	blood:	n/a	chr9:141102215-141102228
41	CTCF	chr9:141102126-141102609	A549	lung:	n/a	chr9:141102215-141102228
42	CTCF	chr9:141102286-141102612	A549	lung:	n/a	n/a
43	CTCF	chr9:141102206-141102514	A549	lung:	n/a	chr9:141102215-141102228
44	CTCF	chr9:141102185-141102578	SK-N-SH	brain:	n/a	chr9:141102215-141102228
45	CTCF	chr9:141111387-141111551	Lung_OC	lung:	n/a	n/a
46	CTCF	chr9:141102380-141102530	SAEC	small airway:	n/a	n/a
47	CTCF	chr9:141102351-141102534	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:141102420-141102570	GM06990	blood:	n/a	n/a
49	CTCF	chr9:141102420-141102570	HEK293	kidney:	n/a	n/a
50	CTCF	chr9:141102440-141102590	HA-sp	spinal cord:	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	chr9:141109427-141109477	T-47D	breast:	n/a
2	chr9:141109427-141109477	T-47D	breast:	n/a
3	chr9:141109427-141109477	MCF-7	breast:	n/a
4	chr9:141109427-141109477	BE2_C	brain:	n/a
5	chr9:141111141-141111191	SK-N-MC	brain:	n/a
6	chr9:141111396-141111446	BJ	skin:	n/a
7	chr9:141111396-141111446	PANC-1	pancreas:	n/a
8	chr9:141105202-141105252	ECC-1	luminal epithelium:	n/a
9	chr9:141111141-141111191	GM12878	blood:	n/a
10	chr9:141109427-141109477	ProgFib	skin:	n/a
11	chr9:141111396-141111446	SK-N-SH_RA	brain:	n/a
12	chr9:141105974-141106024	IMR90	lung:	fetal
13	chr9:141111141-141111191	MCF-7	breast:	n/a
14	chr9:141109427-141109477	HRPEpiC	eye:	n/a
15	chr9:141111141-141111191	AoSMC	blood vessel:	n/a
16	chr9:141111396-141111446	Hela-S3	cervix:	n/a
17	chr9:141109427-141109477	SK-N-SH_RA	brain:	n/a
18	chr9:141109427-141109477	HCPEpiC	choroid plexus:	n/a
19	chr9:141111396-141111446	NHDF-neo	bronchial:	n/a
20	chr9:141105202-141105252	SK-N-MC	brain:	n/a
21	chr9:141105202-141105252	IMR90	lung:	fetal
22	chr9:141105974-141106024	HNPCEpiC	eye:	n/a
23	chr9:141105202-141105252	LNCaP	prostate:	n/a
24	chr9:141111141-141111191	ProgFib	skin:	n/a
25	chr9:141105974-141106024	SK-N-SH	brain:	n/a
26	chr9:141105202-141105252	PANC-1	pancreas:	n/a
27	chr9:141105202-141105252	SK-N-SH_RA	brain:	n/a
28	chr9:141105974-141106024	HL-60	blood:	n/a
29	chr9:141105202-141105252	GM06990	blood:	n/a
30	chr9:141105202-141105252	AoSMC	blood vessel:	n/a
31	chr9:141111141-141111191	NHDF-neo	bronchial:	n/a
32	chr9:141109427-141109477	HNPCEpiC	eye:	n/a
33	chr9:141105974-141106024	HRE	kidney:	n/a
34	chr9:141105202-141105252	HRE	kidney:	n/a
35	chr9:141109427-141109477	HAEpiC	amniotic membrane:	n/a
36	chr9:141111141-141111191	AG04449	skin:	fetal
37	chr9:141105202-141105252	HAEpiC	amniotic membrane:	n/a
38	chr9:141105202-141105252	HCT-116	colon:	n/a
39	chr9:141105202-141105252	HRPEpiC	eye:	n/a
40	chr9:141105202-141105252	HMEC	breast:	n/a
41	chr9:141109427-141109477	AG09309	skin:	n/a
42	chr9:141111141-141111191	ovcar-3	ovarian:	n/a
43	chr9:141109427-141109477	HRCEpiC	kidney:	n/a
44	chr9:141105974-141106024	NB4	blood:	n/a
45	chr9:141105974-141106024	MCF10A-Er-Src	breast:	n/a
46	chr9:141105202-141105252	HEK293	kidney:	embryo
47	chr9:141109427-141109477	GM12891	blood:	n/a
48	chr9:141111141-141111191	GM19239	blood:	n/a
49	chr9:141111396-141111446	Jurkat	blood:	n/a
50	chr9:141109427-141109477	HepG2	liver:	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: 395 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:395 , 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	rs112878636	chr9:141087405-141087406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112829917	chr9:141087412-141087413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76195414	chr9:141087428-141087429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112654241	chr9:141087432-141087433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201662446	chr9:141087463-141087464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111357935	chr9:141087482-141087483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541404501	chr9:141087488-141087489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201228647	chr9:141087490-141087491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs76417957	chr9:141087511-141087512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113079269	chr9:141087515-141087516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561392148	chr9:141087523-141087524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115045843	chr9:141087541-141087542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117959765	chr9:141087542-141087543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149894461	chr9:141087550-141087551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147672197	chr9:141087559-141087560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143788400	chr9:141087561-141087562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141987964	chr9:141087562-141087563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148443534	chr9:141087567-141087568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147769899	chr9:141087570-141087571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138273097	chr9:141087573-141087574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540684432	chr9:141087574-141087575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564211423	chr9:141087579-141087580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146314912	chr9:141087586-141087587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149519112	chr9:141087599-141087600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142984101	chr9:141087602-141087603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146844390	chr9:141087605-141087606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141785316	chr9:141087606-141087607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9942962	chr9:141087643-141087644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368811830	chr9:141087656-141087657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372444044	chr9:141087657-141087658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558025559	chr9:141087663-141087664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550361973	chr9:141087691-141087692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375094864	chr9:141087692-141087693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375271912	chr9:141087713-141087714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529639927	chr9:141087747-141087748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182566429	chr9:141087775-141087776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368470419	chr9:141087793-141087794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76897325	chr9:141087797-141087798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371527353	chr9:141087799-141087800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368549118	chr9:141088800-141088801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574258439	chr9:141088825-141088826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551828947	chr9:141088828-141088829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371504869	chr9:141088837-141088838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147053988	chr9:141088895-141088896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543259358	chr9:141088896-141088897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376226633	chr9:141088898-141088899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560076189	chr9:141088907-141088908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189187737	chr9:141088913-141088914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181489376	chr9:141088918-141088919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11794869	chr9:141088934-141088935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr9:141087400-141087600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:141087600-141087800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:141088800-141089000	Enhancers	K562	blood
4	chr9:141099600-141100400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr9:141099600-141106200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:141099800-141103600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr9:141100400-141100800	Enhancers	Fetal Muscle Leg	muscle
8	chr9:141100400-141101600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr9:141101600-141103800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr9:141103600-141104800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:141103800-141104200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:141104200-141104800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr9:141104200-141105000	Enhancers	NHEK	skin
14	chr9:141104800-141105000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr9:141104800-141105200	Enhancers	HMEC	breast
16	chr9:141104800-141105200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr9:141105000-141105200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr9:141105000-141107200	Weak transcription	NHEK	skin
19	chr9:141105200-141105400	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr9:141105200-141107200	Weak transcription	HMEC	breast
21	chr9:141105200-141107200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr9:141105400-141107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:141106200-141107200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr9:141107200-141107400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr9:141107200-141108200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr9:141107200-141108200	Enhancers	HMEC	breast
27	chr9:141107200-141108400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr9:141107200-141108400	Enhancers	NHEK	skin
29	chr9:141107400-141108000	Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr9:141107400-141108000	Active TSS	Esophagus	oesophagus
31	chr9:141107400-141108200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:141107400-141108400	Active TSS	Primary B cells from cord blood	blood
33	chr9:141107800-141108200	Active TSS	HepG2	liver
34	chr9:141107800-141108200	Enhancers	K562	blood
35	chr9:141108000-141108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr9:141108000-141110800	Weak transcription	Esophagus	oesophagus
37	chr9:141108200-141108400	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr9:141108400-141109000	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr9:141108400-141109200	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr9:141108400-141109600	Weak transcription	NHEK	skin
41	chr9:141108400-141110000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr9:141109000-141109400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr9:141109200-141109400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr9:141109400-141109600	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr9:141109400-141109800	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr9:141109600-141110000	Enhancers	NHEK	skin
47	chr9:141109600-141110200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr9:141109800-141110000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr9:141110000-141112000	Weak transcription	NHEK	skin
50	chr9:141110200-141110800	Enhancers	Primary neutrophils fromperipheralblood	blood

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