Variant report

Variant	nsv1033392
Chromosome Location	chr9:14643651-14657693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
2	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
3	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
4	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
5	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
6	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
7	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:
8	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:

No data

Extended variants
information (count: 664 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12551707	chr9:14643651-14643652	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10961634	chr9:14643699-14643700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs558643401	chr9:14643721-14643722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574962845	chr9:14643722-14643723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543817689	chr9:14643737-14643738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560502836	chr9:14643824-14643825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529589825	chr9:14643829-14643830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114082342	chr9:14643868-14643869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10125040	chr9:14643874-14643875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146855509	chr9:14643897-14643898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567290236	chr9:14643898-14643899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555200772	chr9:14643911-14643912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77972181	chr9:14643912-14643913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536910280	chr9:14643933-14643934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189949839	chr9:14643949-14643950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567652119	chr9:14643976-14643977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536186585	chr9:14643994-14643995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553208509	chr9:14644056-14644057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566629230	chr9:14644098-14644099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182585341	chr9:14644146-14644147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558430317	chr9:14644153-14644154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117043554	chr9:14644170-14644171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145917729	chr9:14644183-14644184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554184222	chr9:14644198-14644199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138146743	chr9:14644217-14644218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112832760	chr9:14644262-14644263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191412502	chr9:14644290-14644291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528737465	chr9:14644303-14644304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541067930	chr9:14644310-14644311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13301062	chr9:14644334-14644335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371021614	chr9:14644337-14644338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149125967	chr9:14644379-14644380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143242737	chr9:14644391-14644392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7035202	chr9:14644402-14644403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183198420	chr9:14644418-14644419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551076595	chr9:14644470-14644471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553896432	chr9:14644505-14644506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72704935	chr9:14644506-14644507	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs13302223	chr9:14644522-14644523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55658273	chr9:14644524-14644525	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556823980	chr9:14644574-14644575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538513512	chr9:14644579-14644580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148316705	chr9:14644582-14644583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143136884	chr9:14644587-14644588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147399495	chr9:14644629-14644630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117572947	chr9:14644660-14644661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570102752	chr9:14644667-14644668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188959224	chr9:14644690-14644691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193256353	chr9:14644721-14644722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542285811	chr9:14644732-14644733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
2	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
5	chr9:14605600-14654800	Weak transcription	HSMM	muscle
6	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
8	chr9:14617200-14646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:14619400-14653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:14619400-14654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:14619600-14654800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:14626800-14655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:14629400-14654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:14629400-14655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:14630000-14654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr9:14630400-14654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:14631000-14654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:14631000-14654800	Weak transcription	Brain Anterior Caudate	brain
19	chr9:14631000-14654800	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
21	chr9:14631200-14653600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:14631200-14653600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:14631200-14653600	Weak transcription	Adipose Nuclei	Adipose
24	chr9:14631400-14653600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:14631600-14653600	Weak transcription	Left Ventricle	heart
26	chr9:14631800-14654000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:14632200-14644600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:14632600-14654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:14633400-14653800	Weak transcription	Fetal Lung	lung
30	chr9:14634200-14654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:14634400-14653600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr9:14634400-14654000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:14634600-14650800	Weak transcription	Esophagus	oesophagus
35	chr9:14634600-14651600	Weak transcription	Fetal Intestine Small	intestine
36	chr9:14634600-14654000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:14634600-14654200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:14634600-14654400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:14634600-14654800	Weak transcription	Right Ventricle	heart
40	chr9:14634600-14659000	Weak transcription	Fetal Stomach	stomach
41	chr9:14634600-14692400	Weak transcription	Gastric	stomach
42	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
43	chr9:14635600-14653800	Weak transcription	Brain Germinal Matrix	brain
44	chr9:14635800-14653600	Weak transcription	GM12878-XiMat	blood
45	chr9:14635800-14659800	Weak transcription	Ovary	ovary
46	chr9:14636000-14653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:14636000-14653600	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:14636400-14653200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr9:14637000-14653600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:14637200-14652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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