Variant report

Variant	esv3408862
Chromosome Location	chr9:19056310-19058050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19049339..19052176-chr9:19056143..19057826,3	MCF-7	breast:
2	chr9:19057659..19060410-chr9:19065163..19067075,2	MCF-7	breast:
3	chr9:19054696..19057530-chr9:19066725..19069005,3	MCF-7	breast:
4	chr9:19048116..19054448-chr9:19056568..19061765,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155876	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142212509	chr9:19056323-19056324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374328391	chr9:19056331-19056332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528514229	chr9:19056348-19056349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372844925	chr9:19056355-19056356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142907947	chr9:19056365-19056366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151203048	chr9:19056374-19056375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140286860	chr9:19056385-19056386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529319617	chr9:19056395-19056396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201056474	chr9:19056398-19056399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369306335	chr9:19056407-19056408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371418229	chr9:19056410-19056411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550364315	chr9:19056418-19056419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372584901	chr9:19056424-19056425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377100314	chr9:19056427-19056428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186429271	chr9:19056482-19056483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62563589	chr9:19056499-19056500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115504877	chr9:19056506-19056507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112485743	chr9:19056536-19056537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147576079	chr9:19056600-19056601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77230971	chr9:19056606-19056607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80282978	chr9:19056608-19056609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533819877	chr9:19056618-19056619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555030901	chr9:19056630-19056631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572868827	chr9:19056657-19056658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567393849	chr9:19056689-19056690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537896470	chr9:19056712-19056713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556281670	chr9:19056713-19056714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs41268999	chr9:19056724-19056725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs141980180	chr9:19056748-19056749	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7856768	chr9:19056754-19056755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs573422669	chr9:19056792-19056793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574500178	chr9:19056809-19056810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113936233	chr9:19056856-19056857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528503828	chr9:19056874-19056875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561700336	chr9:19056893-19056894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140956622	chr9:19056924-19056925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189998660	chr9:19056933-19056934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182201958	chr9:19056980-19056981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188084060	chr9:19057005-19057006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74937362	chr9:19057008-19057009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201122741	chr9:19057042-19057043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531037567	chr9:19057083-19057084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145728845	chr9:19057154-19057155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527565633	chr9:19057346-19057347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs118089322	chr9:19057376-19057377	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567308436	chr9:19057387-19057388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191304545	chr9:19057421-19057422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183515239	chr9:19057466-19057467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80336790	chr9:19057496-19057497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188507443	chr9:19057502-19057503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19050600-19056600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:19050600-19060800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:19050600-19062600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:19050600-19063600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:19050600-19069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:19050800-19074200	Weak transcription	Lung	lung
7	chr9:19051000-19056600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:19051000-19059000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:19051200-19057000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:19051400-19056600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:19051400-19056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:19051400-19056600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:19051400-19056600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:19051400-19056600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:19051400-19066400	Weak transcription	Colonic Mucosa	Colon
16	chr9:19051600-19056400	Weak transcription	Fetal Intestine Small	intestine
17	chr9:19051600-19056400	Weak transcription	Hela-S3	cervix
18	chr9:19051600-19056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:19051600-19056600	Weak transcription	Esophagus	oesophagus
20	chr9:19051600-19056600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:19051600-19056600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:19051600-19056600	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:19051600-19056600	Weak transcription	Fetal Thymus	thymus
24	chr9:19051600-19074400	Weak transcription	Spleen	Spleen
25	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:19051800-19056600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:19051800-19056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:19051800-19056600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr9:19051800-19056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:19051800-19057000	Weak transcription	A549	lung
31	chr9:19051800-19057200	Weak transcription	Brain Substantia Nigra	brain
32	chr9:19051800-19057400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:19051800-19059000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:19051800-19059400	Weak transcription	HSMMtube	muscle
35	chr9:19051800-19070200	Weak transcription	Fetal Kidney	kidney
36	chr9:19051800-19089000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:19052000-19056600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:19052000-19056600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:19052000-19056600	Weak transcription	Fetal Lung	lung
40	chr9:19052000-19056600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:19052000-19056600	Weak transcription	NHDF-Ad	bronchial
42	chr9:19052000-19056600	Weak transcription	NHEK	skin
43	chr9:19052000-19056800	Weak transcription	Primary T cells from cord blood	blood
44	chr9:19052000-19056800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:19052000-19056800	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:19052000-19056800	Weak transcription	NH-A	brain
47	chr9:19052000-19057000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:19052000-19057000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr9:19052000-19057200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:19052000-19057200	Weak transcription	HMEC	breast

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