Variant report

Variant	nsv893753
Chromosome Location	chr9:117015956-117028506
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:123)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:117023345-117023493	K562	blood:	n/a	chr9:117023417-117023426 chr9:117023417-117023426
2	CTCF	chr9:117026500-117026650	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr9:117026520-117026670	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr9:117026580-117026730	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr9:117026577-117026593	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr9:117026500-117026650	A549	lung:	n/a	n/a
7	CTCF	chr9:117026480-117026630	HPF	lung:	n/a	n/a
8	CTCF	chr9:117026540-117026690	HepG2	liver:	n/a	n/a
9	CTCF	chr9:117026480-117026630	HCM	heart:	n/a	n/a
10	CTCF	chr9:117026472-117026632	GM12878	blood:	n/a	n/a
11	CTCF	chr9:117026520-117026670	RPTEC	kidney:	n/a	n/a
12	CTCF	chr9:117026535-117026661	A549	lung:	n/a	n/a
13	CTCF	chr9:117026520-117026670	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr9:117026438-117026762	IMR90	lung:	n/a	n/a
15	CTCF	chr9:117026540-117026690	BJ	skin:	n/a	n/a
16	CTCF	chr9:117026540-117026690	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr9:117026480-117026630	HMF	breast:	n/a	n/a
18	CTCF	chr9:117026458-117026735	K562	blood:	n/a	n/a
19	CTCF	chr9:117026580-117026730	HFF	foreskin:	n/a	n/a
20	CTCF	chr9:117026596-117026611	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr9:117026556-117026635	Gliobla	brain:	n/a	n/a
22	CTCF	chr9:117026503-117026698	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr9:117026520-117026670	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr9:117026566-117026657	GM19240	blood:	n/a	n/a
25	CTCF	chr9:117026477-117026700	K562	blood:	n/a	n/a
26	CTCF	chr9:117026519-117026522	GM12891	blood:	n/a	n/a
27	CTCF	chr9:117026374-117026669	H1-hESC	embryonic stem cell:	n/a	chr9:117026390-117026403
28	CTCF	chr9:117026520-117026670	AG09319	gingival:	n/a	n/a
29	CTCF	chr9:117026480-117026630	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr9:117026520-117026670	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr9:117026620-117026770	A549	lung:	n/a	n/a
32	CTCF	chr9:117026539-117026634	ProgFib	skin:	n/a	n/a
33	CTCF	chr9:117026527-117026701	Medullo	brain:	n/a	n/a
34	CTCF	chr9:117026559-117026670	GM13977	blood:	n/a	n/a
35	CTCF	chr9:117026407-117026755	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr9:117026527-117026677	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr9:117026580-117026730	GM12871	blood:	n/a	n/a
38	CTCF	chr9:117026540-117026690	AG04450	lung:	n/a	n/a
39	CTCF	chr9:117026500-117026650	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr9:117026520-117026670	Caco-2	colon:	n/a	n/a
41	CTCF	chr9:117026500-117026650	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr9:117026480-117026630	AG09309	skin:	n/a	n/a
43	CTCF	chr9:117026460-117026610	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr9:117026435-117026657	K562	blood:	n/a	n/a
45	CTCF	chr9:117026400-117026550	AG09309	skin:	n/a	n/a
46	CTCF	chr9:117026440-117026590	GM12866	blood:	n/a	n/a
47	CTCF	chr9:117026540-117026676	GM10266	blood:	n/a	n/a
48	CTCF	chr9:117026500-117026650	RPTEC	kidney:	n/a	n/a
49	CTCF	chr9:117026520-117026670	HepG2	liver:	n/a	n/a
50	CTCF	chr9:117026500-117026650	BJ	skin:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117026288-117026338	NHBE	bronchial:	n/a
2	chr9:117026288-117026338	NHBE	bronchial:	n/a
3	chr9:117026288-117026338	Caco-2	colon:	n/a
4	chr9:117023199-117023249	H1-hESC	embryonic stem cell:	embryo
5	chr9:117026288-117026338	AG09319	gingival:	n/a
6	chr9:117023199-117023249	GM12878	blood:	n/a
7	chr9:117026288-117026338	MCF10A-Er-Src	breast:	n/a
8	chr9:117026288-117026338	BE2_C	brain:	n/a
9	chr9:117026288-117026338	ECC-1	luminal epithelium:	n/a
10	chr9:117026288-117026338	HIPEpiC	eye:	n/a
11	chr9:117023199-117023249	CMK	blood:	n/a
12	chr9:117023199-117023249	PrEC	prostate:	n/a
13	chr9:117026288-117026338	PrEC	prostate:	n/a
14	chr9:117023199-117023249	SK-N-MC	brain:	n/a
15	chr9:117026288-117026338	HEEpiC	esophagus:	n/a
16	chr9:117023199-117023249	NH-A	brain:	n/a
17	chr9:117023199-117023249	U87	brain:	n/a
18	chr9:117026288-117026338	GM12892	blood:	n/a
19	chr9:117023199-117023249	IMR90	lung:	fetal
20	chr9:117026288-117026338	T-47D	breast:	n/a
21	chr9:117023199-117023249	PANC-1	pancreas:	n/a
22	chr9:117026288-117026338	AoSMC	blood vessel:	n/a
23	chr9:117026288-117026338	AG04449	skin:	fetal
24	chr9:117023199-117023249	ovcar-3	ovarian:	n/a
25	chr9:117023199-117023249	GM06990	blood:	n/a
26	chr9:117026288-117026338	SK-N-SH	brain:	n/a
27	chr9:117026288-117026338	HepG2	liver:	n/a
28	chr9:117026288-117026338	HEK293	kidney:	embryo
29	chr9:117026288-117026338	HCF	heart:	n/a
30	chr9:117026288-117026338	ovcar-3	ovarian:	n/a
31	chr9:117026288-117026338	BJ	skin:	n/a
32	chr9:117023199-117023249	SAEC	small airway:	n/a
33	chr9:117026288-117026338	AG10803	skin:	n/a
34	chr9:117026288-117026338	CMK	blood:	n/a
35	chr9:117023199-117023249	HepG2	liver:	n/a
36	chr9:117023199-117023249	RPTEC	kidney:	n/a
37	chr9:117026288-117026338	NB4	blood:	n/a
38	chr9:117023199-117023249	HCPEpiC	choroid plexus:	n/a
39	chr9:117023199-117023249	Hepatocyte	liver:	n/a
40	chr9:117026288-117026338	NH-A	brain:	n/a
41	chr9:117026288-117026338	PANC-1	pancreas:	n/a
42	chr9:117023199-117023249	GM19239	blood:	n/a
43	chr9:117026288-117026338	HAEpiC	amniotic membrane:	n/a
44	chr9:117026288-117026338	MCF-7	breast:	n/a
45	chr9:117023199-117023249	NHDF-neo	bronchial:	n/a
46	chr9:117023199-117023249	GM12891	blood:	n/a
47	chr9:117023199-117023249	PFSK-1	brain:	n/a
48	chr9:117026288-117026338	A549	lung:	n/a
49	chr9:117023199-117023249	GM12892	blood:	n/a
50	chr9:117023199-117023249	SKMC	muscle:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117019506..117021498-chr9:117026111..117027904,2	MCF-7	breast:
2	chr9:117019506..117021498-chr9:117026111..117027904,2	MCF-7	breast:
3	chr9:116844543..116845536-chr9:117026114..117026681,2	K562	blood:
4	chr9:116869905..116870808-chr9:117026020..117026989,3	MCF-7	breast:
5	chr9:116869941..116870862-chr9:117026162..117027038,2	K562	blood:
6	chr9:117004138..117006321-chr9:117024518..117026602,2	MCF-7	breast:

No data

Variant related genes	Relation type
COL27A1	TF binding region
COL27A1	CpG island

Extended variants
information (count: 585 )
Associated
traits (count: 62 )

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	rs10982124	chr9:117015956-117015957	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529495663	chr9:117015985-117015986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539175467	chr9:117016000-117016001	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556322184	chr9:117016017-117016018	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190467572	chr9:117016022-117016023	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150455738	chr9:117016035-117016036	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535572806	chr9:117016074-117016075	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs555769831	chr9:117016102-117016103	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371953206	chr9:117016128-117016129	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181886713	chr9:117016207-117016208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185755366	chr9:117016233-117016234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538835853	chr9:117016236-117016237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577068856	chr9:117016269-117016270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188988263	chr9:117016299-117016300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577178877	chr9:117016300-117016301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62555397	chr9:117016310-117016311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181130476	chr9:117016312-117016313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376875129	chr9:117016348-117016349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549541595	chr9:117016400-117016401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186664832	chr9:117016401-117016402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547970777	chr9:117016402-117016403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372858118	chr9:117016407-117016408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553286512	chr9:117016461-117016462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561783617	chr9:117016465-117016466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527308859	chr9:117016509-117016510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73566415	chr9:117016536-117016537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538784116	chr9:117016577-117016578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557236636	chr9:117016596-117016597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138344691	chr9:117016597-117016598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550004808	chr9:117016610-117016611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568915849	chr9:117016667-117016668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115617923	chr9:117016734-117016735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369551921	chr9:117016738-117016739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202246051	chr9:117016853-117016854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555580745	chr9:117016855-117016856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535989691	chr9:117016874-117016875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535033545	chr9:117016879-117016880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182652948	chr9:117016884-117016885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577241001	chr9:117016897-117016898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6478074	chr9:117016909-117016910	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562714220	chr9:117016910-117016911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185976586	chr9:117016917-117016918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541978419	chr9:117016929-117016930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78757860	chr9:117016937-117016938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572714244	chr9:117016970-117016971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530992777	chr9:117017010-117017011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540231992	chr9:117017064-117017065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527364601	chr9:117017085-117017086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540653735	chr9:117017088-117017089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36006108	chr9:117017119-117017120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116973400-117047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:116978600-117041200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116978800-117027600	Weak transcription	Esophagus	oesophagus
4	chr9:116978800-117027600	Weak transcription	Gastric	stomach
5	chr9:116986600-117022400	Weak transcription	Hela-S3	cervix
6	chr9:116988600-117026200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:116992200-117022000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:116994400-117024000	Weak transcription	Stomach Mucosa	stomach
9	chr9:116997800-117019200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:116998200-117022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:116999600-117019600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:116999800-117034600	Weak transcription	HMEC	breast
13	chr9:117001600-117039400	Weak transcription	HUVEC	blood vessel
14	chr9:117002000-117021400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:117002000-117022200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:117002000-117041000	Weak transcription	Aorta	Aorta
17	chr9:117002800-117027000	Weak transcription	Spleen	Spleen
18	chr9:117003200-117019200	Strong transcription	Fetal Intestine Large	intestine
19	chr9:117003400-117026200	Strong transcription	Fetal Intestine Small	intestine
20	chr9:117005000-117022400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:117005000-117050200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:117008600-117029000	Weak transcription	NHEK	skin
23	chr9:117010800-117022200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:117011200-117025800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:117011800-117018000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:117011800-117030000	Strong transcription	HepG2	liver
27	chr9:117012000-117016000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:117012400-117054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:117012600-117020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:117013200-117028600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:117013200-117028800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:117013200-117028800	Weak transcription	HSMM	muscle
33	chr9:117013200-117029200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:117013200-117033600	Weak transcription	NHLF	lung
35	chr9:117013400-117016200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:117013400-117024000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr9:117013400-117027000	Weak transcription	Pancreas	Pancrea
38	chr9:117013400-117039400	Weak transcription	Ovary	ovary
39	chr9:117013400-117067800	Weak transcription	Right Ventricle	heart
40	chr9:117013600-117020800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:117013600-117024000	Weak transcription	Left Ventricle	heart
42	chr9:117013600-117027000	Weak transcription	Lung	lung
43	chr9:117013800-117021200	Weak transcription	Fetal Brain Female	brain
44	chr9:117014000-117018800	Strong transcription	Fetal Stomach	stomach
45	chr9:117014200-117022000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:117014200-117038400	Weak transcription	NHDF-Ad	bronchial
47	chr9:117014400-117017600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr9:117014600-117017000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:117014800-117018400	Strong transcription	Fetal Muscle Leg	muscle
50	chr9:117015200-117016200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links