Variant report

Variant	esv3482637
Chromosome Location	chr9:108372212-108373506
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	chr9:108371809..108373559-chr9:108455418..108457234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095209	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74523150	chr9:108372284-108372285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188016879	chr9:108372302-108372303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541130001	chr9:108372317-108372318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150774459	chr9:108372356-108372357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539076759	chr9:108372362-108372363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192906841	chr9:108372418-108372419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562995881	chr9:108372434-108372435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563638608	chr9:108372438-108372439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531138097	chr9:108372539-108372540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183944624	chr9:108372545-108372546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561291843	chr9:108372555-108372556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186736743	chr9:108372575-108372576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547129444	chr9:108372632-108372633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192607947	chr9:108372673-108372674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566165553	chr9:108372674-108372675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539430760	chr9:108372694-108372695	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377009371	chr9:108372697-108372698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185005089	chr9:108372729-108372730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35426719	chr9:108372740-108372741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533621085	chr9:108372810-108372811	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113309291	chr9:108372845-108372846	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551900614	chr9:108372849-108372850	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181763047	chr9:108372868-108372869	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573724012	chr9:108372875-108372876	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534829513	chr9:108372887-108372888	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139730812	chr9:108372891-108372892	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577764327	chr9:108372892-108372893	Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185105496	chr9:108373009-108373010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563377681	chr9:108373021-108373022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386737229	chr9:108373036-108373037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75151184	chr9:108373038-108373039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2518130	chr9:108373054-108373055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528636936	chr9:108373081-108373082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554913126	chr9:108373117-108373118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559485391	chr9:108373118-108373119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555158711	chr9:108373134-108373135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149798143	chr9:108373135-108373136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551377803	chr9:108373136-108373137	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568526666	chr9:108373176-108373177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2417625	chr9:108373184-108373185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537068306	chr9:108373203-108373204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77447617	chr9:108373261-108373262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72746070	chr9:108373344-108373345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181153903	chr9:108373346-108373347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386508534	chr9:108373397-108373398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117643164	chr9:108373504-108373505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:108328000-108372800	Weak transcription	NHEK	skin
3	chr9:108333200-108400400	Weak transcription	HMEC	breast
4	chr9:108335400-108403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:108338400-108403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:108340200-108372800	Weak transcription	Pancreas	Pancrea
7	chr9:108345600-108400000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:108347000-108399600	Weak transcription	Psoas Muscle	Psoas
9	chr9:108349400-108402200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:108350800-108403800	Weak transcription	Fetal Heart	heart
11	chr9:108352600-108382400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:108353600-108385600	Weak transcription	Fetal Kidney	kidney
13	chr9:108354200-108373800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:108354400-108372400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr9:108354400-108372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:108354400-108372800	Weak transcription	Esophagus	oesophagus
17	chr9:108354400-108378200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:108354400-108385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:108354400-108395800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:108354400-108395800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:108354400-108397200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:108354400-108397400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:108354400-108400000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:108354400-108403600	Weak transcription	Brain Substantia Nigra	brain
25	chr9:108354400-108412400	Weak transcription	Right Ventricle	heart
26	chr9:108354600-108372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:108354600-108373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:108354600-108377800	Weak transcription	Spleen	Spleen
29	chr9:108354600-108382400	Weak transcription	Fetal Brain Male	brain
30	chr9:108354600-108389600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr9:108354600-108395600	Weak transcription	Brain Angular Gyrus	brain
32	chr9:108354600-108397000	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:108354600-108397200	Weak transcription	Aorta	Aorta
34	chr9:108354600-108401600	Weak transcription	GM12878-XiMat	blood
35	chr9:108354600-108412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:108354800-108379400	Weak transcription	Fetal Intestine Small	intestine
37	chr9:108354800-108396400	Weak transcription	Fetal Stomach	stomach
38	chr9:108355000-108373800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:108355200-108374200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:108355200-108404200	Weak transcription	Brain Germinal Matrix	brain
41	chr9:108355200-108409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:108355800-108374400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:108355800-108396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr9:108355800-108397200	Weak transcription	Ovary	ovary
45	chr9:108356000-108403800	Weak transcription	Fetal Thymus	thymus
46	chr9:108356200-108372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:108358200-108405000	Weak transcription	HUVEC	blood vessel
48	chr9:108359200-108384400	Weak transcription	NH-A	brain
49	chr9:108359800-108397000	Weak transcription	Liver	Liver
50	chr9:108360400-108385000	Weak transcription	Primary hematopoietic stem cells	blood

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