Variant report

Variant	esv2762830
Chromosome Location	chr9:117208985-117213997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:117203966..117205473-chr9:117208996..117211215,2	MCF-7	breast:
2	chr9:117184889..117187099-chr9:117211307..117213589,2	K562	blood:
3	chr9:117168582..117171387-chr9:117209070..117210632,2	MCF-7	breast:
4	chr9:117213718..117215959-chr9:117219451..117221821,2	MCF-7	breast:
5	chr9:117212794..117215131-chr9:117256264..117258026,2	K562	blood:
6	chr9:117208605..117211490-chr9:117247459..117250146,2	K562	blood:
7	chr9:117211389..117213906-chr9:117260979..117262855,2	MCF-7	breast:
8	chr9:117178096..117180618-chr9:117212529..117214450,2	MCF-7	breast:
9	chr9:117209279..117210982-chr9:117210990..117212766,2	K562	blood:
10	chr9:117209279..117210982-chr9:117210990..117212766,2	K562	blood:
11	chr9:117205106..117207971-chr9:117211760..117214526,2	K562	blood:

No data

Extended variants
information (count: 192 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs10982222	chr9:117208985-117208986	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146110402	chr9:117209007-117209008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140184124	chr9:117209066-117209067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559286562	chr9:117209069-117209070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367814792	chr9:117209103-117209104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76091620	chr9:117209111-117209112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546069931	chr9:117209116-117209117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183453069	chr9:117209183-117209184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544196598	chr9:117209184-117209185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35171954	chr9:117209199-117209200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs56349956	chr9:117209231-117209232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7025068	chr9:117209237-117209238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12238747	chr9:117209261-117209262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142443521	chr9:117209287-117209288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545602748	chr9:117209316-117209317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562396877	chr9:117209317-117209318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150829094	chr9:117209352-117209353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577843623	chr9:117209366-117209367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187070898	chr9:117209399-117209400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529378784	chr9:117209432-117209433	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs530138390	chr9:117209452-117209453	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546777511	chr9:117209543-117209544	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566998729	chr9:117209546-117209547	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs191842801	chr9:117209592-117209593	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs553712747	chr9:117209607-117209608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs182250682	chr9:117209642-117209643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371553810	chr9:117209681-117209682	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs538521549	chr9:117209694-117209695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs139245800	chr9:117209704-117209705	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs59075020	chr9:117209728-117209729	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73656105	chr9:117209730-117209731	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76778112	chr9:117209744-117209745	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs186904075	chr9:117209764-117209765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs192511264	chr9:117209766-117209767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs150017048	chr9:117209770-117209771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs575868747	chr9:117209801-117209802	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs147692869	chr9:117209840-117209841	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs370908248	chr9:117209854-117209855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533331934	chr9:117209884-117209885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs114491967	chr9:117209935-117209936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs185853015	chr9:117209944-117209945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs117429517	chr9:117209970-117209971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs142209683	chr9:117209977-117209978	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs190431791	chr9:117210018-117210019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71951177	chr9:117210041-117210042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56013921	chr9:117210042-117210043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398113827	chr9:117210044-117210045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs398068923	chr9:117210050-117210051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62559522	chr9:117210054-117210055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62559523	chr9:117210058-117210059	Weak transcription Enhancers	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117187000-117213800	Weak transcription	Thymus	Thymus
2	chr9:117189000-117215200	Weak transcription	Fetal Intestine Small	intestine
3	chr9:117203000-117237800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:117203400-117226800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:117204200-117212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:117205000-117209000	Weak transcription	Ovary	ovary
7	chr9:117205000-117212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:117205400-117210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:117206400-117214600	Weak transcription	Esophagus	oesophagus
10	chr9:117207600-117209400	Enhancers	HUVEC	blood vessel
11	chr9:117207600-117209800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:117207800-117209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:117207800-117209200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:117207800-117209200	Enhancers	Hela-S3	cervix
15	chr9:117207800-117209200	Enhancers	HSMMtube	muscle
16	chr9:117207800-117209200	Enhancers	NHDF-Ad	bronchial
17	chr9:117207800-117209400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:117207800-117209600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:117207800-117209600	Enhancers	HSMM	muscle
20	chr9:117207800-117210000	Enhancers	Brain Angular Gyrus	brain
21	chr9:117207800-117210000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr9:117207800-117210200	Enhancers	Brain Hippocampus Middle	brain
23	chr9:117207800-117212800	Enhancers	Brain Substantia Nigra	brain
24	chr9:117208000-117209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:117208000-117209200	Enhancers	NH-A	brain
26	chr9:117208000-117209200	Enhancers	Osteobl	bone
27	chr9:117208000-117209600	Enhancers	Brain Anterior Caudate	brain
28	chr9:117208000-117209600	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:117208000-117210400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:117208200-117209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:117208200-117209200	Enhancers	NHEK	skin
32	chr9:117208200-117209400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:117208400-117209000	Bivalent Enhancer	HMEC	breast
34	chr9:117208400-117209600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:117208400-117210000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:117208600-117209400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:117208600-117213000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:117209000-117209200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:117209000-117209600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:117209000-117209600	Enhancers	Ovary	ovary
41	chr9:117209200-117209400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:117209200-117209600	Enhancers	Lung	lung
43	chr9:117209200-117209800	Enhancers	Spleen	Spleen
44	chr9:117209200-117211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:117209200-117211000	Weak transcription	NHDF-Ad	bronchial
46	chr9:117209200-117211600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:117209200-117211800	Weak transcription	HSMMtube	muscle
48	chr9:117209400-117209600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:117209400-117209600	Enhancers	Primary hematopoietic stem cells	blood
50	chr9:117209400-117210000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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