Variant report

Variant	esv12169
Chromosome Location	chr9:104222718-104223864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104223612..104225291-chr9:104247459..104250202,2	K562	blood:
2	chr9:104220056..104222734-chr9:104292272..104293989,2	K562	blood:
3	chr9:104221464..104223281-chr9:104260800..104263635,2	K562	blood:

Variant related genes	Relation type
ENSG00000165152	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117677879	chr9:104222742-104222743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544807302	chr9:104222762-104222763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564496510	chr9:104222775-104222776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533498596	chr9:104222778-104222779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190233652	chr9:104222865-104222866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560508424	chr9:104222875-104222876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182484314	chr9:104222958-104222959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549348586	chr9:104222959-104222960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187521514	chr9:104222986-104222987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7872599	chr9:104222989-104222990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550772246	chr9:104222997-104222998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375401185	chr9:104223000-104223001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539554133	chr9:104223005-104223006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192908216	chr9:104223076-104223077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183495159	chr9:104223095-104223096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535090745	chr9:104223101-104223102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554909274	chr9:104223114-104223115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35872423	chr9:104223115-104223116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140171192	chr9:104223196-104223197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10819937	chr9:104223233-104223234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
21	rs374882429	chr9:104223236-104223237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10989518	chr9:104223252-104223253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560569408	chr9:104223259-104223260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188832129	chr9:104223283-104223284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543057964	chr9:104223350-104223351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562841825	chr9:104223360-104223361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143953705	chr9:104223368-104223369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550585850	chr9:104223369-104223370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564346748	chr9:104223415-104223416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113326000	chr9:104223416-104223417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112305822	chr9:104223439-104223440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75346617	chr9:104223505-104223506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566243344	chr9:104223720-104223721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535148724	chr9:104223729-104223730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193224734	chr9:104223742-104223743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74467878	chr9:104223780-104223781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139094833	chr9:104223788-104223789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142547601	chr9:104223834-104223835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150961200	chr9:104223862-104223863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104217000-104227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:104218200-104223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:104218600-104228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:104218800-104223400	Weak transcription	NH-A	brain
6	chr9:104221200-104223400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:104221200-104224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:104221200-104225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:104221400-104223000	Weak transcription	Fetal Intestine Large	intestine
10	chr9:104221400-104223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:104221400-104223600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:104221400-104227200	Weak transcription	Liver	Liver
13	chr9:104221400-104227400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:104221800-104223200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:104221800-104223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:104221800-104223600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:104221800-104224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:104221800-104227600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:104221800-104227600	Weak transcription	NHLF	lung
20	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:104222000-104223000	Weak transcription	Stomach Mucosa	stomach
22	chr9:104222000-104223000	Weak transcription	HepG2	liver
23	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:104223000-104223800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:104223000-104223800	Enhancers	Fetal Intestine Large	intestine
26	chr9:104223000-104223800	Enhancers	HepG2	liver
27	chr9:104223000-104224600	Enhancers	Stomach Mucosa	stomach
28	chr9:104223200-104224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:104223200-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:104223400-104223600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:104223400-104223800	Enhancers	NH-A	brain
32	chr9:104223400-104225800	Enhancers	K562	blood
33	chr9:104223400-104226000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:104223600-104223800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:104223600-104223800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:104223600-104223800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:104223600-104224000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:104223800-104224200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:104223800-104224200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:104223800-104224200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:104223800-104224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:104223800-104224800	Weak transcription	NH-A	brain
43	chr9:104223800-104227000	Weak transcription	Fetal Intestine Large	intestine
44	chr9:104223800-104227000	Weak transcription	HepG2	liver
45	chr9:104223800-104227400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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