Variant report

Variant	esv2468145
Chromosome Location	chr9:95633691-95635271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95633290..95637071-chr9:95638828..95641049,4	K562	blood:
2	chr9:95632496..95634707-chr9:95639572..95641169,2	MCF-7	breast:
3	chr9:95632175..95634114-chr9:95643076..95644693,2	K562	blood:

Variant related genes	Relation type
ENSG00000127081	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 71 )

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	rs139712598	chr9:95633716-95633717	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535023752	chr9:95633744-95633745	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10115872	chr9:95633759-95633760	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188632979	chr9:95633792-95633793	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192132519	chr9:95633826-95633827	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184177651	chr9:95633855-95633856	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563432619	chr9:95633907-95633908	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575380211	chr9:95633992-95633993	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs59319672	chr9:95634018-95634019	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113725787	chr9:95634049-95634050	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564964127	chr9:95634080-95634081	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532400124	chr9:95634116-95634117	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547394917	chr9:95634149-95634150	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143632502	chr9:95634194-95634195	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529707185	chr9:95634239-95634240	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551630648	chr9:95634240-95634241	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548256180	chr9:95634284-95634285	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569746291	chr9:95634292-95634293	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536780136	chr9:95634301-95634302	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552705665	chr9:95634315-95634316	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369962183	chr9:95634374-95634375	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376418803	chr9:95634375-95634376	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191839099	chr9:95634381-95634382	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184679072	chr9:95634427-95634428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10821031	chr9:95634437-95634438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574833569	chr9:95634445-95634446	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535453778	chr9:95634447-95634448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10821032	chr9:95634469-95634470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575675188	chr9:95634490-95634491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149660583	chr9:95634510-95634511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
31	rs59372760	chr9:95634539-95634540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10821033	chr9:95634547-95634548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10821034	chr9:95634579-95634580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12349051	chr9:95634641-95634642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77818631	chr9:95634657-95634658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs67049816	chr9:95634712-95634713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189551756	chr9:95634721-95634722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112923549	chr9:95634728-95634729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11793491	chr9:95634740-95634741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10435920	chr9:95634741-95634742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74312816	chr9:95634772-95634773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537371475	chr9:95634773-95634774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545503583	chr9:95634804-95634805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180744437	chr9:95634834-95634835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530047830	chr9:95634845-95634846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548193094	chr9:95634882-95634883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563288557	chr9:95634927-95634928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530602221	chr9:95634995-95634996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551989564	chr9:95635037-95635038	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558797862	chr9:95635045-95635046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95609000-95639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:95616200-95639800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:95616400-95639800	Weak transcription	Small Intestine	intestine
4	chr9:95616600-95639600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:95618200-95639800	Weak transcription	Colonic Mucosa	Colon
6	chr9:95618400-95637600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:95618400-95638600	Weak transcription	K562	blood
8	chr9:95618600-95638000	Weak transcription	Brain Anterior Caudate	brain
9	chr9:95619600-95638600	Weak transcription	Brain Angular Gyrus	brain
10	chr9:95622400-95635200	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:95622400-95637600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:95622400-95637800	Weak transcription	Hela-S3	cervix
13	chr9:95622400-95638000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:95622400-95638000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:95622400-95638600	Weak transcription	HMEC	breast
16	chr9:95622400-95638600	Weak transcription	NHDF-Ad	bronchial
17	chr9:95622400-95638800	Weak transcription	NHLF	lung
18	chr9:95622600-95633800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:95622600-95635000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:95622600-95637600	Weak transcription	Esophagus	oesophagus
21	chr9:95622600-95637600	Weak transcription	Spleen	Spleen
22	chr9:95622600-95638800	Weak transcription	Brain Substantia Nigra	brain
23	chr9:95622600-95639000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:95622600-95639000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:95622600-95639000	Weak transcription	NH-A	brain
26	chr9:95622600-95639400	Weak transcription	HSMMtube	muscle
27	chr9:95622600-95639600	Weak transcription	Fetal Kidney	kidney
28	chr9:95622600-95639800	Weak transcription	Aorta	Aorta
29	chr9:95623200-95637600	Weak transcription	Ovary	ovary
30	chr9:95623200-95639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:95623200-95639400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:95623600-95639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:95623800-95637200	Weak transcription	Fetal Brain Male	brain
34	chr9:95625600-95639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:95626000-95634200	Strong transcription	Primary B cells from cord blood	blood
36	chr9:95626000-95634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:95626000-95634400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr9:95628200-95639800	Weak transcription	Right Atrium	heart
39	chr9:95629000-95635600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:95629000-95636600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:95629200-95634200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:95629400-95635000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:95629400-95637800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:95629600-95637800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:95629800-95634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:95629800-95635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:95630000-95633800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:95630000-95634200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:95630000-95634400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr9:95630000-95634400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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