Variant report

Variant	esv275579
Chromosome Location	chr9:94368514-94371319
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	EP300	chr9:94370100-94370102	GM12878	blood:	n/a	n/a
2	STAT3	chr9:94371196-94371392	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94367677..94370193-chr9:94371746..94374428,2	K562	blood:

Variant related genes	Relation type
PAICSP2	TF binding region
ENSG00000228595	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1027269	chr9:94368561-94368562	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550724437	chr9:94368580-94368581	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144112671	chr9:94368614-94368615	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570613074	chr9:94368624-94368625	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369554397	chr9:94368628-94368629	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561959704	chr9:94368645-94368646	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186554577	chr9:94368652-94368653	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62564994	chr9:94368701-94368702	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6479365	chr9:94368707-94368708	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72742888	chr9:94368717-94368718	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191334766	chr9:94368721-94368722	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113244391	chr9:94368773-94368774	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538978136	chr9:94368797-94368798	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35883485	chr9:94368823-94368824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185519292	chr9:94368839-94368840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534744721	chr9:94368866-94368867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190405049	chr9:94368876-94368877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7847068	chr9:94368892-94368893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535254017	chr9:94368914-94368915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193153739	chr9:94368994-94368995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148684162	chr9:94369007-94369008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4744069	chr9:94369018-94369019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185340347	chr9:94369024-94369025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142238226	chr9:94369030-94369031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4744070	chr9:94369120-94369121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs202056034	chr9:94369140-94369141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561800765	chr9:94369189-94369190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529501997	chr9:94369225-94369226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117763234	chr9:94369255-94369256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12380036	chr9:94369266-94369267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114242942	chr9:94369269-94369270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181367498	chr9:94369355-94369356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374343360	chr9:94369387-94369388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112273611	chr9:94369397-94369398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528044691	chr9:94369416-94369417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546726020	chr9:94369492-94369493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557957165	chr9:94369500-94369501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185788170	chr9:94369518-94369519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7019783	chr9:94369539-94369540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556902643	chr9:94369540-94369541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141174650	chr9:94369550-94369551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539366021	chr9:94369611-94369612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557600341	chr9:94369645-94369646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572907922	chr9:94369707-94369708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35749537	chr9:94369720-94369721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540196017	chr9:94369725-94369726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7036860	chr9:94369728-94369729	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574100709	chr9:94369731-94369732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544672678	chr9:94369738-94369739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542551901	chr9:94369744-94369745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94368000-94368800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr9:94368000-94369000	Enhancers	Fetal Intestine Large	intestine
3	chr9:94368200-94369000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:94368400-94368600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr9:94368400-94368800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:94368400-94368800	Enhancers	Duodenum Mucosa	Duodenum
7	chr9:94368400-94368800	Enhancers	Fetal Intestine Small	intestine
8	chr9:94368400-94368800	Enhancers	Fetal Kidney	kidney
9	chr9:94368400-94368800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr9:94368400-94369000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr9:94368400-94369200	Enhancers	Gastric	stomach
12	chr9:94368400-94369600	Enhancers	Pancreas	Pancrea
13	chr9:94368800-94374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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