Variant report

Variant	esv2454171
Chromosome Location	chr9:136399393-136399393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:136399241-136399863	HepG2	liver:	n/a	chr9:136399644-136399660 chr9:136399631-136399647 chr9:136399641-136399657
2	CTBP2	chr9:136399312-136400329	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr9:136399156-136399833	GM12878	blood:	n/a	chr9:136399642-136399654 chr9:136399388-136399397 chr9:136399387-136399398 chr9:136399643-136399652 chr9:136399646-136399655
4	ELF1	chr9:136399354-136399590	K562	blood:	n/a	chr9:136399388-136399397 chr9:136399387-136399398
5	EP300	chr9:136399028-136399411	SK-N-SH_RA	brain:	n/a	chr9:136399390-136399397
6	GTF2F1	chr9:136399344-136399407	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr9:136399052-136400500	HepG2	liver:	n/a	chr9:136400126-136400136
8	MAZ	chr9:136399274-136400204	IMR90	lung:	n/a	chr9:136400126-136400136
9	MXI1	chr9:136398970-136400066	IMR90	lung:	n/a	n/a
10	RAD21	chr9:136397945-136401922	SK-N-SH	brain:	n/a	chr9:136398364-136398374 chr9:136399822-136399835 chr9:136399556-136399570 chr9:136398362-136398375 chr9:136398364-136398376
11	REST	chr9:136399029-136399507	SK-N-SH	brain:	n/a	chr9:136399466-136399484 chr9:136399465-136399485 chr9:136399476-136399485 chr9:136399472-136399485 chr9:136399469-136399482
12	SMC3	chr9:136398102-136401007	SK-N-SH	brain:	n/a	chr9:136398360-136398374 chr9:136400504-136400514 chr9:136400129-136400143 chr9:136398364-136398374 chr9:136398728-136398735
13	TCF12	chr9:136398891-136399930	SK-N-SH	brain:	n/a	chr9:136399000-136399010
14	TCF12	chr9:136398881-136400064	SK-N-SH	brain:	n/a	chr9:136399000-136399010

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136399386-136399436	U87	brain:	n/a
2	chr9:136399386-136399436	GM12891	blood:	n/a
3	chr9:136399386-136399436	Hela-S3	cervix:	n/a
4	chr9:136399386-136399436	HepG2	liver:	n/a
5	chr9:136399386-136399436	HRCEpiC	kidney:	n/a
6	chr9:136399386-136399436	HIPEpiC	eye:	n/a
7	chr9:136399386-136399436	HUVEC	blood vessel:	n/a
8	chr9:136399386-136399436	GM19239	blood:	n/a
9	chr9:136399386-136399436	AG10803	skin:	n/a
10	chr9:136399386-136399436	LNCaP	prostate:	n/a
11	chr9:136399386-136399436	HCT-116	colon:	n/a
12	chr9:136399386-136399436	BJ	skin:	n/a
13	chr9:136399386-136399436	A549	lung:	n/a
14	chr9:136399386-136399436	HCM	heart:	n/a
15	chr9:136399386-136399436	SAEC	small airway:	n/a
16	chr9:136399386-136399436	Hepatocyte	liver:	n/a
17	chr9:136399386-136399436	HL-60	blood:	n/a
18	chr9:136399386-136399436	SK-N-MC	brain:	n/a
19	chr9:136399386-136399436	HEEpiC	esophagus:	n/a
20	chr9:136399386-136399436	NH-A	brain:	n/a
21	chr9:136399386-136399436	HRE	kidney:	n/a
22	chr9:136399386-136399436	SKMC	muscle:	n/a
23	chr9:136399386-136399436	Caco-2	colon:	n/a
24	chr9:136399386-136399436	PrEC	prostate:	n/a
25	chr9:136399386-136399436	PFSK-1	brain:	n/a
26	chr9:136399386-136399436	ovcar-3	ovarian:	n/a
27	chr9:136399386-136399436	Jurkat	blood:	n/a
28	chr9:136399386-136399436	HCPEpiC	choroid plexus:	n/a
29	chr9:136399386-136399436	ECC-1	luminal epithelium:	n/a
30	chr9:136399386-136399436	HPAEpiC	pulmonary alveolar:	n/a
31	chr9:136399386-136399436	GM12878	blood:	n/a
32	chr9:136399386-136399436	MCF-7	breast:	n/a
33	chr9:136399386-136399436	AoSMC	blood vessel:	n/a
34	chr9:136399386-136399436	ProgFib	skin:	n/a
35	chr9:136399386-136399436	T-47D	breast:	n/a
36	chr9:136399386-136399436	PANC-1	pancreas:	n/a
37	chr9:136399386-136399436	AG09309	skin:	n/a
38	chr9:136399386-136399436	AG09319	gingival:	n/a
39	chr9:136399386-136399436	GM06990	blood:	n/a
40	chr9:136399386-136399436	HCF	heart:	n/a
41	chr9:136399386-136399436	HEK293	kidney:	embryo
42	chr9:136399386-136399436	HMEC	breast:	n/a
43	chr9:136399386-136399436	RPTEC	kidney:	n/a
44	chr9:136399386-136399436	K562	blood:	n/a
45	chr9:136399386-136399436	NT2-D1	testis:	n/a
46	chr9:136399386-136399436	SK-N-SH_RA	brain:	n/a
47	chr9:136399386-136399436	AG04449	skin:	fetal
48	chr9:136399386-136399436	NHDF-neo	bronchial:	n/a
49	chr9:136399386-136399436	AG04450	lung:	fetal
50	chr9:136399386-136399436	HRPEpiC	eye:	n/a

Variant related genes	Relation type
ADAMTSL2	TF binding region
ADAMTSL2	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 77 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148849067	chr9:136399393-136399394	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Gastrointestinal stromal cancer	16982739	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	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136393600-136399400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr9:136397800-136399600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr9:136397800-136399600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr9:136397800-136400400	Enhancers	HSMM	muscle
5	chr9:136398000-136399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:136398000-136399400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:136398000-136399600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr9:136398000-136399800	Enhancers	Brain Angular Gyrus	brain
9	chr9:136398000-136400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:136398000-136400200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr9:136398000-136400200	Bivalent Enhancer	Placenta	Placenta
12	chr9:136398000-136400200	Enhancers	HSMMtube	muscle
13	chr9:136398200-136399400	Bivalent Enhancer	Thymus	Thymus
14	chr9:136398200-136399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr9:136398200-136399800	Enhancers	Fetal Lung	lung
16	chr9:136398200-136402000	Enhancers	Fetal Brain Male	brain
17	chr9:136398400-136399400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr9:136398400-136399400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr9:136398400-136399400	Enhancers	Colon Smooth Muscle	Colon
20	chr9:136398400-136400000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr9:136398400-136400000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr9:136398600-136399400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr9:136398600-136399400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr9:136398600-136399400	Enhancers	Fetal Kidney	kidney
25	chr9:136398600-136399400	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr9:136398600-136399600	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr9:136398600-136399800	Enhancers	Ovary	ovary
28	chr9:136398600-136400400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:136398600-136400400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:136398600-136400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:136398600-136402200	Enhancers	Spleen	Spleen
32	chr9:136398800-136399400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:136398800-136399400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:136398800-136399400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:136398800-136399400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr9:136398800-136399400	Enhancers	Right Ventricle	heart
37	chr9:136398800-136399600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr9:136398800-136399800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr9:136398800-136399800	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr9:136398800-136400000	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr9:136398800-136400000	Enhancers	Gastric	stomach
42	chr9:136398800-136400000	Enhancers	Lung	lung
43	chr9:136398800-136400200	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr9:136398800-136400200	Bivalent Enhancer	NHLF	lung
45	chr9:136399000-136399400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr9:136399000-136399400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:136399000-136399400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:136399000-136399400	Enhancers	Fetal Brain Female	brain
49	chr9:136399000-136399400	Enhancers	Osteobl	bone
50	chr9:136399000-136399600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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