Variant report

Variant	esv3344137
Chromosome Location	chr9:97590602-97594805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97594651..97597412-chr9:97683309..97685774,2	MCF-7	breast:
2	chr9:97582616..97584503-chr9:97594687..97596950,2	MCF-7	breast:
3	chr9:97580692..97583696-chr9:97588466..97591730,4	MCF-7	breast:
4	chr9:97591718..97593908-chr9:97672689..97674656,2	MCF-7	breast:
5	chr9:97590052..97592321-chr9:97623121..97624727,2	MCF-7	breast:
6	chr9:97591789..97593682-chr9:97596295..97598175,2	K562	blood:

Variant related genes	Relation type
ENSG00000148120	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111496588	chr9:97590616-97590617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201684466	chr9:97590618-97590619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10125609	chr9:97590631-97590632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72746570	chr9:97590681-97590682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554053153	chr9:97590708-97590709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571659417	chr9:97590794-97590795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553747321	chr9:97590829-97590830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141471005	chr9:97590872-97590873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560786102	chr9:97590907-97590908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373205322	chr9:97590913-97590914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150843788	chr9:97590973-97590974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543233258	chr9:97591009-97591010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145764829	chr9:97591039-97591040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565135915	chr9:97591060-97591061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532442283	chr9:97591079-97591080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547677379	chr9:97591083-97591084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557282618	chr9:97591084-97591085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13300540	chr9:97591108-97591109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11291910	chr9:97591158-97591159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187382082	chr9:97591184-97591185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7031518	chr9:97591185-97591186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs549374707	chr9:97591215-97591216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567640088	chr9:97591325-97591326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538382699	chr9:97591343-97591344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146282026	chr9:97591410-97591411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545081763	chr9:97591477-97591478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574999997	chr9:97591478-97591479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571467510	chr9:97591492-97591493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561351597	chr9:97591496-97591497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550765369	chr9:97591498-97591499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77904891	chr9:97591501-97591502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572418524	chr9:97591516-97591517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370420481	chr9:97591549-97591550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554575112	chr9:97591584-97591585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576055304	chr9:97591602-97591603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114427569	chr9:97591607-97591608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564841756	chr9:97591630-97591631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146425355	chr9:97591658-97591659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541249681	chr9:97591665-97591666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562525457	chr9:97591808-97591809	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559652220	chr9:97591850-97591851	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530052138	chr9:97591968-97591969	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549087715	chr9:97591999-97592000	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561373419	chr9:97592037-97592038	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145054384	chr9:97592067-97592068	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531616830	chr9:97592078-97592079	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550201436	chr9:97592082-97592083	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13285343	chr9:97592090-97592091	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs532531526	chr9:97592095-97592096	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547616086	chr9:97592134-97592135	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr9:97567400-97593400	Weak transcription	Thymus	Thymus
3	chr9:97570000-97594400	Weak transcription	Dnd41	blood
4	chr9:97570000-97601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:97571800-97622600	Weak transcription	Primary B cells from cord blood	blood
6	chr9:97572000-97601600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr9:97572600-97593600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:97580600-97600200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:97581800-97591800	Weak transcription	Small Intestine	intestine
10	chr9:97581800-97609600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:97582000-97599400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:97582200-97594000	Weak transcription	NHEK	skin
13	chr9:97584200-97593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:97584800-97591600	Weak transcription	GM12878-XiMat	blood
15	chr9:97585000-97609600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:97586000-97591600	Weak transcription	Hela-S3	cervix
17	chr9:97588000-97590800	Enhancers	NHDF-Ad	bronchial
18	chr9:97588000-97591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:97588000-97591600	Weak transcription	Fetal Stomach	stomach
20	chr9:97588600-97590800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:97588800-97591600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:97589000-97591000	Enhancers	Liver	Liver
23	chr9:97589000-97591000	Enhancers	Osteobl	bone
24	chr9:97589200-97591000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:97589200-97591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:97589200-97591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:97589200-97591000	Enhancers	Fetal Lung	lung
28	chr9:97589200-97591800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:97589200-97591800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:97589200-97591800	Weak transcription	Left Ventricle	heart
31	chr9:97589200-97592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:97589200-97598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:97589200-97600400	Weak transcription	Primary T cells from cord blood	blood
34	chr9:97589200-97602000	Weak transcription	Lung	lung
35	chr9:97589200-97605400	Weak transcription	Spleen	Spleen
36	chr9:97589200-97609400	Weak transcription	Pancreas	Pancrea
37	chr9:97589200-97622400	Weak transcription	Aorta	Aorta
38	chr9:97589400-97591000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:97589400-97591200	Weak transcription	Esophagus	oesophagus
40	chr9:97589400-97591800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr9:97589400-97591800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:97589400-97598600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:97589600-97591000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:97589600-97591200	Weak transcription	Placenta	Placenta
45	chr9:97589600-97592200	Enhancers	HSMM	muscle
46	chr9:97589600-97592200	Enhancers	HSMMtube	muscle
47	chr9:97590000-97596600	Weak transcription	Fetal Heart	heart
48	chr9:97590200-97590800	Flanking Active TSS	HepG2	liver
49	chr9:97590200-97591600	Weak transcription	Brain Angular Gyrus	brain
50	chr9:97590200-97591800	Weak transcription	Fetal Muscle Leg	muscle

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