Variant report

Variant	esv2491583
Chromosome Location	chr9:94032190-94033662
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	chr9:94024742..94027423-chr9:94031756..94034466,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78181783	chr9:94032205-94032206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188460677	chr9:94032226-94032227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560541110	chr9:94032282-94032283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531338819	chr9:94032308-94032309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75534996	chr9:94032341-94032342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529737312	chr9:94032344-94032345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202068343	chr9:94032368-94032369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532180293	chr9:94032401-94032402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547599280	chr9:94032429-94032430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562108497	chr9:94032511-94032512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181309919	chr9:94032512-94032513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530014585	chr9:94032519-94032520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373285149	chr9:94032546-94032547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36126634	chr9:94032601-94032602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548508289	chr9:94032667-94032668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569912471	chr9:94032713-94032714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77696652	chr9:94032727-94032728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10991862	chr9:94032737-94032738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558756185	chr9:94032740-94032741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575539800	chr9:94032757-94032758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570905484	chr9:94032762-94032763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534823618	chr9:94032776-94032777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553139478	chr9:94032798-94032799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574735630	chr9:94032839-94032840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140565526	chr9:94032878-94032879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143722358	chr9:94032973-94032974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111895462	chr9:94032989-94032990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148237752	chr9:94032990-94032991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564573070	chr9:94033027-94033028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2292363	chr9:94033050-94033051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543426987	chr9:94033065-94033066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373947175	chr9:94033099-94033100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2292364	chr9:94033122-94033123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2292365	chr9:94033155-94033156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560614233	chr9:94033184-94033185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529340995	chr9:94033196-94033197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529925068	chr9:94033212-94033213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185047036	chr9:94033227-94033228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563625177	chr9:94033237-94033238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374571484	chr9:94033260-94033261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530744547	chr9:94033292-94033293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375628552	chr9:94033309-94033310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552524579	chr9:94033310-94033311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189904493	chr9:94033311-94033312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140281846	chr9:94033329-94033330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549416205	chr9:94033330-94033331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569236023	chr9:94033387-94033388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183668271	chr9:94033399-94033400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370223304	chr9:94033419-94033420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568272438	chr9:94033429-94033430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93982800-94032400	Weak transcription	Ovary	ovary
2	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:93995800-94052400	Weak transcription	Fetal Stomach	stomach
6	chr9:94002800-94032600	Weak transcription	Placenta	Placenta
7	chr9:94004600-94051800	Weak transcription	Liver	Liver
8	chr9:94008600-94036200	Weak transcription	HSMM	muscle
9	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:94019000-94032400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:94019000-94032400	Weak transcription	Fetal Brain Male	brain
12	chr9:94019000-94034800	Weak transcription	Fetal Lung	lung
13	chr9:94019000-94036600	Weak transcription	NHDF-Ad	bronchial
14	chr9:94019000-94056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:94019200-94037000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:94019200-94037400	Weak transcription	Psoas Muscle	Psoas
17	chr9:94019200-94040200	Weak transcription	Gastric	stomach
18	chr9:94019200-94059200	Weak transcription	Spleen	Spleen
19	chr9:94019400-94053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr9:94019400-94068200	Weak transcription	Right Ventricle	heart
21	chr9:94019800-94044000	Weak transcription	Left Ventricle	heart
22	chr9:94023800-94048400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:94024200-94034800	Weak transcription	Fetal Heart	heart
24	chr9:94024200-94054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:94024400-94048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:94024400-94054600	Weak transcription	Primary B cells from cord blood	blood
27	chr9:94024800-94044600	Weak transcription	HepG2	liver
28	chr9:94024800-94059400	Weak transcription	Pancreas	Pancrea
29	chr9:94026000-94054000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr9:94026800-94046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:94027000-94055000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:94028200-94053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:94028600-94037800	Weak transcription	Fetal Kidney	kidney
34	chr9:94029000-94036600	Weak transcription	A549	lung
35	chr9:94029200-94032400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:94029400-94080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:94029800-94052400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:94030200-94052400	Weak transcription	Primary T cells from cord blood	blood
39	chr9:94030800-94032400	Weak transcription	Fetal Intestine Small	intestine
40	chr9:94031000-94032400	Weak transcription	Fetal Intestine Large	intestine
41	chr9:94032000-94033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:94032200-94034000	Enhancers	Brain Germinal Matrix	brain
43	chr9:94032400-94032600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:94032400-94032600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:94032400-94032600	Enhancers	Brain Anterior Caudate	brain
46	chr9:94032400-94032600	Enhancers	Fetal Muscle Trunk	muscle
47	chr9:94032400-94032600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr9:94032400-94032800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:94032400-94032800	Enhancers	Fetal Intestine Large	intestine
50	chr9:94032400-94032800	Enhancers	Ovary	ovary

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