Variant report

Variant	esv1795393
Chromosome Location	chr9:136533509-136535588
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	BACH1	chr9:136534562-136534677	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr9:136534359-136535043	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr9:136534222-136534625	H1-hESC	embryonic stem cell:	n/a	chr9:136534570-136534583
4	MAX	chr9:136534417-136534971	H1-hESC	embryonic stem cell:	n/a	chr9:136534714-136534729 chr9:136534851-136534861
5	POLR2A	chr9:136533324-136534403	HepG2	liver:	n/a	n/a
6	SIN3A	chr9:136534422-136534665	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr9:136534590-136534801	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr9:136534505-136534882	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr9:136534288-136534503	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:136533491..136538951-chr9:136540367..136544630,5	MCF-7	breast:
2	chr9:136528592..136530737-chr9:136533318..136534835,2	K562	blood:
3	chr9:136528562..136531390-chr9:136533335..136537164,3	K562	blood:

Variant related genes	Relation type
SARDH	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200729804	chr9:136533518-136533519	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201698739	chr9:136533526-136533527	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs565917710	chr9:136533541-136533542	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575625868	chr9:136533543-136533544	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190759706	chr9:136533553-136533554	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199701732	chr9:136533560-136533561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117596235	chr9:136533565-136533566	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146243146	chr9:136533569-136533570	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567762445	chr9:136533573-136533574	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374100703	chr9:136533576-136533577	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370709201	chr9:136533582-136533583	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553333073	chr9:136533598-136533599	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192600797	chr9:136533599-136533600	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111589590	chr9:136533623-136533624	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200846970	chr9:136533632-136533633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368342052	chr9:136533677-136533678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371937828	chr9:136533686-136533687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376823219	chr9:136533688-136533689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111216884	chr9:136533693-136533694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs545756528	chr9:136533706-136533707	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs559190556	chr9:136533722-136533723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372619826	chr9:136533730-136533731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575936754	chr9:136533758-136533759	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374759603	chr9:136533772-136533773	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560794476	chr9:136533793-136533794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368842345	chr9:136533797-136533798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372902602	chr9:136533806-136533807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374915666	chr9:136533808-136533809	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539806072	chr9:136533826-136533827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369911536	chr9:136533830-136533831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373137052	chr9:136533850-136533851	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111216814	chr9:136533864-136533865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559760100	chr9:136533878-136533879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs377263203	chr9:136533892-136533893	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111216823	chr9:136533894-136533895	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369933544	chr9:136533913-136533914	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs374348451	chr9:136533933-136533934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377436995	chr9:136533959-136533960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111216865	chr9:136533966-136533967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370232215	chr9:136533983-136533984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs548383945	chr9:136533992-136533993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375365756	chr9:136534021-136534022	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377537382	chr9:136534026-136534027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371345212	chr9:136534037-136534038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs111216802	chr9:136534073-136534074	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374277700	chr9:136534092-136534093	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368200191	chr9:136534104-136534105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111207654	chr9:136534154-136534155	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374475975	chr9:136534157-136534158	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs367788789	chr9:136534168-136534169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136524400-136541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:136524800-136535600	Weak transcription	HepG2	liver
3	chr9:136524800-136537000	Weak transcription	Fetal Lung	lung
4	chr9:136524800-136542800	Weak transcription	Right Atrium	heart
5	chr9:136524800-136555600	Weak transcription	HSMM	muscle
6	chr9:136525000-136556800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:136525200-136534000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:136525200-136534600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:136525400-136534600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:136525800-136536200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr9:136526000-136534400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:136526000-136534800	Weak transcription	Fetal Intestine Small	intestine
13	chr9:136528400-136540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:136528600-136544200	Weak transcription	Ovary	ovary
15	chr9:136529000-136533600	Strong transcription	Liver	Liver
16	chr9:136529400-136534600	Weak transcription	Pancreas	Pancrea
17	chr9:136530200-136533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:136530600-136534600	Weak transcription	Fetal Thymus	thymus
19	chr9:136530800-136534600	Weak transcription	Primary T cells from cord blood	blood
20	chr9:136530800-136561000	Weak transcription	Gastric	stomach
21	chr9:136532000-136534600	Weak transcription	Fetal Stomach	stomach
22	chr9:136532000-136543600	Weak transcription	Lung	lung
23	chr9:136532200-136534600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:136532200-136534600	Weak transcription	Spleen	Spleen
25	chr9:136532400-136534600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:136533200-136534400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:136533200-136538200	Weak transcription	Right Ventricle	heart
28	chr9:136533200-136539600	Weak transcription	Thymus	Thymus
29	chr9:136533400-136534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:136533400-136534800	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:136533600-136534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:136533600-136534400	Weak transcription	Liver	Liver
33	chr9:136534400-136535200	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr9:136534400-136537000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:136534400-136539400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:136534400-136540400	Strong transcription	Liver	Liver
37	chr9:136534600-136534800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr9:136534600-136534800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:136534600-136534800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr9:136534600-136534800	Genic enhancers	Pancreas	Pancrea
41	chr9:136534600-136535000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:136534600-136535000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr9:136534600-136535200	ZNF genes & repeats	Spleen	Spleen
44	chr9:136534600-136536000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:136534600-136537000	Strong transcription	Fetal Stomach	stomach
46	chr9:136534600-136538200	Strong transcription	Fetal Thymus	thymus
47	chr9:136534600-136540000	Strong transcription	Primary T cells from cord blood	blood
48	chr9:136534800-136535000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:136534800-136535000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:136534800-136535000	Enhancers	Pancreas	Pancrea

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