Variant report

Variant	nsv972297
Chromosome Location	chr9:18825298-18826375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:18826140-18826290	HMEC	breast:	n/a	n/a
2	CTCF	chr9:18826374-18826587	MCF-7	breast:	n/a	n/a
3	CTCF	chr9:18826328-18826656	MCF-7	breast:	n/a	n/a
4	CTCF	chr9:18826360-18826510	GM12874	blood:	n/a	n/a
5	CTCF	chr9:18825220-18825370	NHLF	lung:	n/a	n/a
6	CTCF	chr9:18826340-18826490	GM12864	blood:	n/a	n/a
7	CTCF	chr9:18825100-18825350	AG04450	lung:	n/a	n/a
8	CTCF	chr9:18826360-18826510	NHEK	skin:	n/a	n/a
9	CTCF	chr9:18826340-18826490	Hela-S3	cervix:	n/a	n/a
10	KAP1	chr9:18825029-18825459	HEK293	kidney:	n/a	n/a
11	ZNF263	chr9:18826225-18826685	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:18825658-18825708	HMEC	breast:	n/a
2	chr9:18825658-18825708	ProgFib	skin:	n/a
3	chr9:18825658-18825708	K562	blood:	n/a
4	chr9:18825658-18825708	AG04450	lung:	fetal
5	chr9:18825658-18825708	GM12891	blood:	n/a
6	chr9:18825658-18825708	T-47D	breast:	n/a
7	chr9:18825658-18825708	SAEC	small airway:	n/a
8	chr9:18825658-18825708	PrEC	prostate:	n/a
9	chr9:18825658-18825708	HAEpiC	amniotic membrane:	n/a
10	chr9:18825658-18825708	HNPCEpiC	eye:	n/a
11	chr9:18825658-18825708	IMR90	lung:	fetal
12	chr9:18825658-18825708	HEEpiC	esophagus:	n/a
13	chr9:18825658-18825708	GM06990	blood:	n/a
14	chr9:18825658-18825708	LNCaP	prostate:	n/a
15	chr9:18825658-18825708	RPTEC	kidney:	n/a
16	chr9:18825658-18825708	GM12892	blood:	n/a
17	chr9:18825658-18825708	BE2_C	brain:	n/a
18	chr9:18825658-18825708	GM19239	blood:	n/a
19	chr9:18825658-18825708	GM12878	blood:	n/a
20	chr9:18825658-18825708	Caco-2	colon:	n/a
21	chr9:18825658-18825708	SKMC	muscle:	n/a
22	chr9:18825658-18825708	HCT-116	colon:	n/a
23	chr9:18825658-18825708	HEK293	kidney:	embryo
24	chr9:18825658-18825708	HepG2	liver:	n/a
25	chr9:18825658-18825708	Hepatocyte	liver:	n/a
26	chr9:18825658-18825708	HCM	heart:	n/a
27	chr9:18825658-18825708	HL-60	blood:	n/a
28	chr9:18825658-18825708	AG04449	skin:	fetal
29	chr9:18825658-18825708	NB4	blood:	n/a
30	chr9:18825658-18825708	NT2-D1	testis:	n/a
31	chr9:18825658-18825708	NHBE	bronchial:	n/a
32	chr9:18825658-18825708	NHDF-neo	bronchial:	n/a
33	chr9:18825658-18825708	Jurkat	blood:	n/a
34	chr9:18825658-18825708	A549	lung:	n/a
35	chr9:18825658-18825708	HRPEpiC	eye:	n/a
36	chr9:18825658-18825708	HPAEpiC	pulmonary alveolar:	n/a
37	chr9:18825658-18825708	HCPEpiC	choroid plexus:	n/a
38	chr9:18825658-18825708	AoSMC	blood vessel:	n/a
39	chr9:18825658-18825708	CMK	blood:	n/a
40	chr9:18825658-18825708	Hela-S3	cervix:	n/a
41	chr9:18825658-18825708	PANC-1	pancreas:	n/a
42	chr9:18825658-18825708	H1-hESC	embryonic stem cell:	embryo
43	chr9:18825658-18825708	SK-N-MC	brain:	n/a
44	chr9:18825658-18825708	ovcar-3	ovarian:	n/a
45	chr9:18825658-18825708	HIPEpiC	eye:	n/a
46	chr9:18825658-18825708	SK-N-SH	brain:	n/a
47	chr9:18825658-18825708	SK-N-SH_RA	brain:	n/a
48	chr9:18825658-18825708	MCF-7	breast:	n/a
49	chr9:18825658-18825708	U87	brain:	n/a
50	chr9:18825658-18825708	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18826203..18828034-chr9:18832223..18834749,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL1	TF binding region
ADAMTSL1	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113071803	chr9:18825303-18825304	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534016156	chr9:18825323-18825324	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574161428	chr9:18825369-18825370	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555239891	chr9:18825403-18825404	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187976552	chr9:18825426-18825427	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs572385217	chr9:18825429-18825430	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562839265	chr9:18825483-18825484	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1965111	chr9:18825484-18825485	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191246085	chr9:18825507-18825508	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117169219	chr9:18825512-18825513	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10963784	chr9:18825527-18825528	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199634024	chr9:18825553-18825554	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139628029	chr9:18825559-18825560	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183059738	chr9:18825632-18825633	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143547662	chr9:18825646-18825647	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10963785	chr9:18825658-18825659	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187411659	chr9:18825659-18825660	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs571520775	chr9:18825733-18825734	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147155838	chr9:18825744-18825745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7871789	chr9:18825771-18825772	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs58274847	chr9:18825782-18825783	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565646500	chr9:18825788-18825789	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535902034	chr9:18825790-18825791	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12342159	chr9:18825794-18825795	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576103666	chr9:18825818-18825819	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527749830	chr9:18825859-18825860	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538000458	chr9:18825893-18825894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556344798	chr9:18825929-18825930	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140391979	chr9:18825932-18825933	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545314530	chr9:18825948-18825949	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560651780	chr9:18825949-18825950	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374930234	chr9:18825958-18825959	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs142086866	chr9:18826023-18826024	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs58686714	chr9:18826048-18826049	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115066080	chr9:18826072-18826073	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531845814	chr9:18826106-18826107	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549961786	chr9:18826165-18826166	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561275954	chr9:18826172-18826173	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199972099	chr9:18826175-18826176	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532005354	chr9:18826190-18826191	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565093273	chr9:18826192-18826193	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532421925	chr9:18826208-18826209	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199873806	chr9:18826260-18826261	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552133431	chr9:18826262-18826263	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562486347	chr9:18826263-18826264	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs75054093	chr9:18826272-18826273	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs80308610	chr9:18826274-18826275	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs151137759	chr9:18826311-18826312	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199557610	chr9:18826314-18826315	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375010823	chr9:18826336-18826337	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18806400-18826000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:18815400-18829200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:18818000-18845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:18818200-18828800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:18821600-18825400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:18822000-18826800	Enhancers	Fetal Heart	heart
7	chr9:18822600-18826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:18822800-18826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:18823000-18825400	Enhancers	Stomach Mucosa	stomach
10	chr9:18823000-18826400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:18823000-18834400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:18823400-18826600	Enhancers	Lung	lung
13	chr9:18824000-18826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:18824000-18827400	Enhancers	Primary T cells from cord blood	blood
15	chr9:18824000-18827800	Enhancers	Fetal Thymus	thymus
16	chr9:18824200-18825400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:18824200-18825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:18824200-18825400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:18824200-18825400	Enhancers	Colon Smooth Muscle	Colon
20	chr9:18824200-18825600	Genic enhancers	NHDF-Ad	bronchial
21	chr9:18824200-18825800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:18824400-18825400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:18824400-18825400	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr9:18824400-18825400	Enhancers	Aorta	Aorta
25	chr9:18824400-18825400	Enhancers	Liver	Liver
26	chr9:18824400-18825400	Enhancers	Right Atrium	heart
27	chr9:18824400-18825400	Enhancers	Right Ventricle	heart
28	chr9:18824400-18825400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:18824400-18825400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:18824400-18825400	Genic enhancers	HSMM	muscle
31	chr9:18824400-18825800	Enhancers	Adipose Nuclei	Adipose
32	chr9:18824400-18826600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:18824800-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr9:18825000-18825400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:18825000-18825400	Enhancers	Esophagus	oesophagus
36	chr9:18825000-18825400	Enhancers	Ovary	ovary
37	chr9:18825000-18825400	Enhancers	Psoas Muscle	Psoas
38	chr9:18825000-18825400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:18825000-18825400	Enhancers	Stomach Smooth Muscle	stomach
40	chr9:18825000-18825400	Enhancers	HepG2	liver
41	chr9:18825000-18825400	Enhancers	HSMMtube	muscle
42	chr9:18825000-18825600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:18825000-18825600	Enhancers	Dnd41	blood
44	chr9:18825000-18825600	Enhancers	NHLF	lung
45	chr9:18825000-18825800	Enhancers	Fetal Muscle Leg	muscle
46	chr9:18825000-18826000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr9:18825000-18826000	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:18825000-18826000	Genic enhancers	Fetal Stomach	stomach
49	chr9:18825000-18826200	Enhancers	Fetal Lung	lung
50	chr9:18825000-18826400	Enhancers	Primary T cells fromperipheralblood	blood

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