Variant report

Variant	esv3483872
Chromosome Location	chr9:95877553-95878135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95867099..95869631-chr9:95876073..95877812,2	K562	blood:
2	chr9:95869643..95873929-chr9:95874567..95878954,6	MCF-7	breast:
3	chr9:95875785..95878413-chr9:96024427..96026531,2	MCF-7	breast:
4	chr9:95856945..95860499-chr9:95877670..95883441,5	MCF-7	breast:
5	chr9:95874371..95880149-chr9:95880216..95885255,14	K562	blood:
6	chr9:95875459..95880390-chr9:95892230..95899028,13	K562	blood:
7	chr9:95874739..95878921-chr9:95879079..95884047,10	K562	blood:

Variant related genes	Relation type
ENSG00000165233	chromatin interactions
ENSG00000165238	chromatin interactions
ENSG00000131669	chromatin interactions
ENSG00000223446	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558575319	chr9:95877600-95877601	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs576552838	chr9:95877684-95877685	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs375272953	chr9:95877718-95877719	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs568282922	chr9:95877753-95877754	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs113228923	chr9:95877754-95877755	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs539428902	chr9:95877761-95877762	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs137893792	chr9:95877764-95877765	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs561625739	chr9:95877777-95877778	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs541193166	chr9:95877809-95877810	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs373782438	chr9:95877915-95877916	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs186650790	chr9:95877942-95877943	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs191466145	chr9:95877954-95877955	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs553184531	chr9:95877982-95877983	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs184431933	chr9:95878026-95878027	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs188908930	chr9:95878043-95878044	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs574768866	chr9:95878045-95878046	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs542555686	chr9:95878057-95878058	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs563522855	chr9:95878058-95878059	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs137982375	chr9:95878078-95878079	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs139908862	chr9:95878094-95878095	Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95859600-95889400	Weak transcription	Fetal Kidney	kidney
2	chr9:95861800-95882000	Weak transcription	HSMMtube	muscle
3	chr9:95862000-95878400	Weak transcription	Stomach Mucosa	stomach
4	chr9:95862000-95881800	Weak transcription	HUVEC	blood vessel
5	chr9:95862200-95878000	Weak transcription	HSMM	muscle
6	chr9:95862200-95878600	Weak transcription	Psoas Muscle	Psoas
7	chr9:95862200-95878600	Weak transcription	Right Atrium	heart
8	chr9:95866600-95878600	Weak transcription	NHDF-Ad	bronchial
9	chr9:95867000-95878400	Weak transcription	Fetal Lung	lung
10	chr9:95869000-95877600	Strong transcription	Fetal Intestine Small	intestine
11	chr9:95869200-95877600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:95870000-95895400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:95871000-95894200	Weak transcription	Dnd41	blood
14	chr9:95871200-95878400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:95871200-95878400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:95871200-95878400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:95871600-95882000	Weak transcription	GM12878-XiMat	blood
18	chr9:95872200-95881600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr9:95872200-95882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:95872400-95878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:95872600-95877600	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:95872800-95878000	Enhancers	Primary B cells from cord blood	blood
23	chr9:95873200-95877800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:95873400-95888800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:95873600-95877600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:95873600-95877600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:95873600-95881800	Weak transcription	NHEK	skin
28	chr9:95873600-95886000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:95873800-95878400	Weak transcription	Liver	Liver
30	chr9:95874000-95878400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:95874200-95881800	Weak transcription	NH-A	brain
32	chr9:95874400-95877600	Genic enhancers	A549	lung
33	chr9:95874600-95878600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:95874800-95877600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:95874800-95883600	Weak transcription	Primary T cells from cord blood	blood
36	chr9:95875000-95878000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr9:95875200-95877800	Enhancers	K562	blood
38	chr9:95875200-95878400	Enhancers	HepG2	liver
39	chr9:95875200-95878600	Weak transcription	Left Ventricle	heart
40	chr9:95876000-95877600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:95876000-95877600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr9:95876000-95879200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:95876000-95879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:95876000-95881600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:95876000-95881600	Weak transcription	Brain Angular Gyrus	brain
46	chr9:95876000-95882200	Weak transcription	Brain Substantia Nigra	brain
47	chr9:95876200-95877800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:95876200-95878600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:95876200-95881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr9:95876400-95877600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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