Variant report

Variant	nsv526561
Chromosome Location	chr9:136938961-136986911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:351)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:136953426-136953571	K562	blood:	n/a	n/a
2	BHLHE40	chr9:136979658-136979900	HepG2	liver:	n/a	n/a
3	BHLHE40	chr9:136964263-136964631	HepG2	liver:	n/a	n/a
4	BRCA1	chr9:136964293-136964645	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr9:136965726-136966029	K562	blood:	n/a	n/a
6	CEBPB	chr9:136963099-136963401	HepG2	liver:	n/a	chr9:136963263-136963274
7	CEBPB	chr9:136964317-136964808	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:136941729-136941830	HepG2	liver:	n/a	chr9:136941774-136941785
9	CEBPB	chr9:136941728-136941865	K562	blood:	n/a	chr9:136941774-136941785
10	CEBPB	chr9:136964464-136964765	A549	lung:	n/a	n/a
11	CEBPB	chr9:136964711-136964747	HepG2	liver:	n/a	n/a
12	CREB1	chr9:136964204-136964609	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr9:136964147-136964674	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr9:136969037-136969118	GM19239	blood:	n/a	n/a
15	CTCF	chr9:136964480-136964630	A549	lung:	n/a	n/a
16	CTCF	chr9:136964400-136964550	HPF	lung:	n/a	n/a
17	CTCF	chr9:136969754-136969768	GM19239	blood:	n/a	n/a
18	CTCF	chr9:136969648-136969681	GM19239	blood:	n/a	n/a
19	CTCF	chr9:136964354-136964591	ProgFib	skin:	n/a	n/a
20	CTCF	chr9:136964420-136964570	GM12875	blood:	n/a	n/a
21	CTCF	chr9:136964420-136964570	Caco-2	colon:	n/a	n/a
22	CTCF	chr9:136964400-136964550	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr9:136964762-136964819	Lung_OC	lung:	n/a	n/a
24	CTCF	chr9:136964400-136964550	BE2_C	brain:	n/a	n/a
25	CTCF	chr9:136964247-136964253	LNCaP	prostate:	n/a	n/a
26	CTCF	chr9:136964319-136964634	GM12878	blood:	n/a	n/a
27	CTCF	chr9:136964409-136964599	GM20000	blood:	n/a	n/a
28	CTCF	chr9:136969693-136969744	GM19239	blood:	n/a	n/a
29	CTCF	chr9:136964060-136964210	WI-38	lung:	n/a	n/a
30	CTCF	chr9:136964400-136964550	GM12874	blood:	n/a	n/a
31	CTCF	chr9:136964260-136964410	A549	lung:	n/a	n/a
32	CTCF	chr9:136964305-136964524	GM12891	blood:	n/a	n/a
33	CTCF	chr9:136964420-136964570	AoAF	blood vessel:	n/a	n/a
34	CTCF	chr9:136964640-136964790	GM12866	blood:	n/a	n/a
35	CTCF	chr9:136964304-136964687	IMR90	lung:	n/a	n/a
36	CTCF	chr9:136964255-136964580	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr9:136964440-136964590	AG10803	skin:	n/a	n/a
38	CTCF	chr9:136964360-136964613	LNCaP	prostate:	n/a	n/a
39	CTCF	chr9:136964349-136964623	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr9:136964420-136964570	GM06990	blood:	n/a	n/a
41	CTCF	chr9:136964380-136964530	HVMF	connective:	n/a	n/a
42	CTCF	chr9:136964400-136964550	GM12878	blood:	n/a	n/a
43	CTCF	chr9:136964363-136964634	Medullo	brain:	n/a	n/a
44	CTCF	chr9:136964380-136964530	RPTEC	kidney:	n/a	n/a
45	CTCF	chr9:136964400-136964550	WI-38	lung:	n/a	n/a
46	CTCF	chr9:136964400-136964550	HMEC	breast:	n/a	n/a
47	CTCF	chr9:136964372-136964602	GM10248	blood:	n/a	n/a
48	CTCF	chr9:136964332-136964553	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:136964774-136964848	GM13977	blood:	n/a	n/a
50	CTCF	chr9:136964319-136964578	GM12892	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136931980..136934490-chr9:136948173..136950156,2	K562	blood:
2	chr9:136932544..136934724-chr9:136952923..136955342,2	MCF-7	breast:
3	chr9:136647017..136647900-chr9:136964007..136964904,2	K562	blood:
4	chr9:136859431..136860674-chr9:136964030..136964900,5	MCF-7	breast:
5	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:
6	chr9:136657835..136658758-chr9:136963973..136964578,4	K562	blood:
7	chr9:136936468..136938178-chr9:136961890..136964663,2	MCF-7	breast:
8	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
9	chr9:136934778..136936960-chr9:136965343..136968102,2	K562	blood:
10	chr9:136958564..136960340-chr9:136962963..136965312,2	MCF-7	breast:
11	chr9:136958564..136960340-chr9:136962963..136965312,2	MCF-7	breast:
12	chr9:136859325..136860777-chr9:136964002..136965283,7	MCF-7	breast:
13	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
14	chr9:136858439..136860470-chr9:136963479..136965806,2	MCF-7	breast:
15	chr9:136966895..136967395-chr9:137427987..137428542,2	K562	blood:
16	chr9:136856596..136858826-chr9:136986805..136989503,2	MCF-7	breast:
17	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:
18	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
19	chr9:136608275..136608832-chr9:136966155..136966872,2	K562	blood:
20	chr9:136933336..136938226-chr9:136938233..136943071,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-6	chr9:136974582-136974862	NONHSAT135374
2	lnc-WDR5-6	chr9:136973135-136973275	NONHSAT135374
3	lnc-WDR5-6	chr9:136968818-136968857	NONHSAT135374

No data

Variant related genes	Relation type
ENSG00000271525	TF binding region
ENSG00000160293	chromatin interactions
ENSG00000169925	chromatin interactions

Extended variants
information (count: 1541 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2078778	chr9:136938961-136938962	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188154616	chr9:136938981-136938982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75012658	chr9:136939067-136939068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149697577	chr9:136939110-136939111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192863796	chr9:136939122-136939123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145492978	chr9:136939166-136939167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185296314	chr9:136939174-136939175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553320212	chr9:136939189-136939190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550253222	chr9:136939209-136939210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs578024158	chr9:136939212-136939213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2078779	chr9:136939231-136939232	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540870780	chr9:136939239-136939240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558231619	chr9:136939273-136939274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576451858	chr9:136939281-136939282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543906559	chr9:136939412-136939413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10761401	chr9:136939455-136939456	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10761402	chr9:136939459-136939460	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549825917	chr9:136939461-136939462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559604872	chr9:136939490-136939491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140130607	chr9:136939522-136939523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564886338	chr9:136939528-136939529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550951363	chr9:136939542-136939543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530708645	chr9:136939552-136939553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373970750	chr9:136939557-136939558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2506709	chr9:136939588-136939589	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530475002	chr9:136939613-136939614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532020032	chr9:136939622-136939623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370070066	chr9:136939644-136939645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147753703	chr9:136939666-136939667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142614346	chr9:136939735-136939736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553230707	chr9:136939738-136939739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571563349	chr9:136939764-136939765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538976327	chr9:136939772-136939773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143378945	chr9:136939844-136939845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114776670	chr9:136939888-136939889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10821551	chr9:136939890-136939891	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570207737	chr9:136939933-136939934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555848033	chr9:136939948-136939949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190298916	chr9:136939979-136939980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191970038	chr9:136939989-136939990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10821552	chr9:136939992-136939993	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533404697	chr9:136940053-136940054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545295932	chr9:136940081-136940082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562914819	chr9:136940165-136940166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151252004	chr9:136940167-136940168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566087448	chr9:136940184-136940185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534692165	chr9:136940201-136940202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534968809	chr9:136940230-136940231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201647599	chr9:136940266-136940267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146696608	chr9:136940267-136940268	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	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
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136943800-136944600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr9:136946200-136946800	Enhancers	HepG2	liver
3	chr9:136948400-136949200	Enhancers	HMEC	breast
4	chr9:136948400-136949200	Enhancers	NHEK	skin
5	chr9:136948400-136949400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:136948400-136949400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:136948600-136949000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:136949600-136951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:136953000-136953200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr9:136953000-136953400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:136953000-136953600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:136953000-136953600	Enhancers	NHEK	skin
13	chr9:136953000-136953800	Enhancers	Esophagus	oesophagus
14	chr9:136953200-136953400	Enhancers	Gastric	stomach
15	chr9:136953200-136953600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:136953200-136953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:136953200-136953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:136953200-136953600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr9:136953400-136953600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:136953400-136968400	Weak transcription	Gastric	stomach
21	chr9:136953600-136955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:136954800-136955000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:136955000-136955400	Bivalent Enhancer	HepG2	liver
24	chr9:136955200-136955400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:136958400-136959200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:136962800-136965200	Enhancers	HepG2	liver
27	chr9:136964000-136964200	Bivalent Enhancer	Hela-S3	cervix
28	chr9:136964200-136964400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:136964200-136964400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr9:136964200-136964400	Flanking Bivalent TSS/Enh	Hela-S3	cervix
31	chr9:136964400-136964800	Bivalent Enhancer	Hela-S3	cervix
32	chr9:136964400-136966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:136965200-136966800	Bivalent Enhancer	HepG2	liver
34	chr9:136966600-136966800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr9:136966600-136967000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:136966600-136967000	Enhancers	Fetal Intestine Large	intestine
37	chr9:136966600-136967200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr9:136966800-136967200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:136966800-136967200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:136966800-136967200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr9:136966800-136967200	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr9:136966800-136967400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:136967200-136967400	Bivalent Enhancer	Hela-S3	cervix
44	chr9:136967200-136967400	Bivalent Enhancer	HepG2	liver
45	chr9:136967200-136967800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:136968400-136968600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:136968400-136969200	ZNF genes & repeats	Gastric	stomach
48	chr9:136969200-136969400	Weak transcription	Gastric	stomach
49	chr9:136969400-136969600	Enhancers	Gastric	stomach
50	chr9:136974400-136974800	Enhancers	HepG2	liver

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