Variant report

Variant	esv3356541
Chromosome Location	chr9:2721602-2723150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2717251..2720244-chr9:2720440..2722938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168263	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112551780	chr9:2721622-2721623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs193023970	chr9:2721626-2721627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145185770	chr9:2721662-2721663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144853728	chr9:2721676-2721677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377264575	chr9:2721713-2721714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576080507	chr9:2721760-2721761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544826384	chr9:2721763-2721764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558625032	chr9:2721768-2721769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10967728	chr9:2721794-2721795	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567850245	chr9:2721896-2721897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187594287	chr9:2721920-2721921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530041919	chr9:2721950-2721951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192771612	chr9:2721987-2721988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200844065	chr9:2722026-2722027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562782353	chr9:2722040-2722041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184107399	chr9:2722047-2722048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201986912	chr9:2722062-2722063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11792858	chr9:2722116-2722117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542268287	chr9:2722157-2722158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11792860	chr9:2722160-2722161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200378501	chr9:2722172-2722173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11792863	chr9:2722182-2722183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191857406	chr9:2722188-2722189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528394809	chr9:2722195-2722196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184373516	chr9:2722257-2722258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111216821	chr9:2722258-2722259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182089065	chr9:2722280-2722281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536591967	chr9:2722287-2722288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202083526	chr9:2722290-2722291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199999074	chr9:2722296-2722297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565058104	chr9:2722298-2722299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569505565	chr9:2722305-2722306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538639537	chr9:2722307-2722308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189098580	chr9:2722324-2722325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572190411	chr9:2722327-2722328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530633735	chr9:2722337-2722338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551026165	chr9:2722352-2722353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28676622	chr9:2722457-2722458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554835571	chr9:2722475-2722476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574774423	chr9:2722489-2722490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543398858	chr9:2722507-2722508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567658734	chr9:2722520-2722521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180726391	chr9:2722521-2722522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201173700	chr9:2722546-2722547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531573559	chr9:2722554-2722555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185154535	chr9:2722555-2722556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189915793	chr9:2722556-2722557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371385550	chr9:2722601-2722602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112580315	chr9:2722645-2722646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182567252	chr9:2722676-2722677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2697200-2722800	Weak transcription	HSMM	muscle
2	chr9:2700600-2727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:2701600-2727800	Weak transcription	Pancreas	Pancrea
4	chr9:2702200-2722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:2702600-2722800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:2710000-2722800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:2710000-2723800	Weak transcription	HSMMtube	muscle
8	chr9:2712000-2722600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:2714800-2727800	Weak transcription	Ovary	ovary
10	chr9:2715600-2722800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:2715800-2727800	Weak transcription	Osteobl	bone
12	chr9:2716200-2729200	Weak transcription	Right Ventricle	heart
13	chr9:2716400-2727800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:2717000-2725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:2717400-2725200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:2718000-2772800	Weak transcription	Aorta	Aorta
17	chr9:2718200-2722800	Weak transcription	Adipose Nuclei	Adipose
18	chr9:2718400-2722800	Weak transcription	Fetal Lung	lung
19	chr9:2718400-2728200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:2718600-2722600	Weak transcription	HMEC	breast
21	chr9:2718600-2722800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:2719000-2722600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:2719000-2722600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:2719000-2722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:2719000-2722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:2719000-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:2719000-2725400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:2719000-2726400	Weak transcription	Fetal Brain Male	brain
29	chr9:2719000-2726600	Weak transcription	Esophagus	oesophagus
30	chr9:2719000-2727800	Weak transcription	Gastric	stomach
31	chr9:2719200-2722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:2719200-2722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:2719200-2722800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:2719200-2722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:2719200-2722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:2719200-2722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:2719200-2722800	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:2719200-2722800	Weak transcription	Fetal Stomach	stomach
39	chr9:2719200-2726600	Weak transcription	NHLF	lung
40	chr9:2719200-2727800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:2719200-2768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:2719200-2768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:2719400-2722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:2719400-2722600	Weak transcription	NHEK	skin
45	chr9:2719600-2728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:2719800-2722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:2720000-2727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:2720000-2727800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:2720400-2723200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:2720600-2722800	Weak transcription	Fetal Kidney	kidney

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