Variant report

Variant	nsv531634
Chromosome Location	chr9:98227972-98230831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98214310..98216415-chr9:98227721..98230889,3	MCF-7	breast:
2	chr9:98228127..98229820-chr9:98239088..98240889,2	K562	blood:
3	chr9:98223555..98229775-chr9:98269693..98275962,10	K562	blood:
4	chr9:98222977..98229750-chr9:98267050..98274823,12	K562	blood:
5	chr9:98223864..98226761-chr9:98228381..98231062,3	K562	blood:
6	chr9:98227014..98229023-chr9:98271434..98274318,2	MCF-7	breast:
7	chr9:98227321..98228997-chr9:98229888..98232177,2	K562	blood:

Variant related genes	Relation type
ENSG00000271155	chromatin interactions
ENSG00000185920	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536865842	chr9:98227992-98227993	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573109223	chr9:98228001-98228002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555471659	chr9:98228161-98228162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534161103	chr9:98228179-98228180	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28394554	chr9:98228225-98228226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs118162639	chr9:98228234-98228235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544179082	chr9:98228257-98228258	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62558339	chr9:98228265-98228266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370905248	chr9:98228308-98228309	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117099859	chr9:98228310-98228311	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141606986	chr9:98228322-98228323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183198216	chr9:98228359-98228360	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545325358	chr9:98228360-98228361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs71499903	chr9:98228396-98228397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560349706	chr9:98228414-98228415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527474939	chr9:98228432-98228433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34523327	chr9:98228453-98228454	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549246500	chr9:98228471-98228472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142873293	chr9:98228537-98228538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552993451	chr9:98228545-98228546	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577612900	chr9:98228578-98228579	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544954261	chr9:98228596-98228597	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529404287	chr9:98228609-98228610	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550919968	chr9:98228637-98228638	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569183318	chr9:98228661-98228662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539701579	chr9:98228695-98228696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35817272	chr9:98228733-98228734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188559758	chr9:98228765-98228766	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569026520	chr9:98228812-98228813	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs193155495	chr9:98228826-98228827	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185002261	chr9:98228842-98228843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555716938	chr9:98228844-98228845	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573645513	chr9:98228895-98228896	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs151075914	chr9:98228937-98228938	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556077449	chr9:98229016-98229017	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563635155	chr9:98229028-98229029	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577722292	chr9:98229031-98229032	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375019046	chr9:98229050-98229051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369272562	chr9:98229068-98229069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575312216	chr9:98229093-98229094	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140930213	chr9:98229099-98229100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs56360859	chr9:98229155-98229156	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs652525	chr9:98229183-98229184	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560932063	chr9:98229185-98229186	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529339635	chr9:98229195-98229196	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544397956	chr9:98229230-98229231	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs41302661	chr9:98229255-98229256	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs45628039	chr9:98229264-98229265	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533137791	chr9:98229269-98229270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551410038	chr9:98229274-98229275	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 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
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
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98206000-98237600	Weak transcription	Psoas Muscle	Psoas
2	chr9:98221800-98232400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
4	chr9:98224000-98228800	Weak transcription	Liver	Liver
5	chr9:98224200-98228000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:98224200-98228800	Weak transcription	Right Ventricle	heart
7	chr9:98224200-98229000	Weak transcription	Esophagus	oesophagus
8	chr9:98224400-98228800	Weak transcription	HepG2	liver
9	chr9:98224600-98228800	Weak transcription	Aorta	Aorta
10	chr9:98225000-98228200	Genic enhancers	Fetal Lung	lung
11	chr9:98225000-98228800	Weak transcription	Lung	lung
12	chr9:98225200-98229000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:98225600-98229200	Weak transcription	Spleen	Spleen
14	chr9:98225600-98234000	Weak transcription	Right Atrium	heart
15	chr9:98225800-98228800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:98225800-98228800	Enhancers	Brain Germinal Matrix	brain
17	chr9:98225800-98229000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:98225800-98229000	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:98225800-98239600	Weak transcription	HMEC	breast
20	chr9:98225800-98239800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:98225800-98244000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:98226000-98228000	Weak transcription	Left Ventricle	heart
23	chr9:98226000-98228400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:98226000-98229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:98226000-98229000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:98226000-98229200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:98226000-98229400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:98226000-98248400	Weak transcription	HUVEC	blood vessel
29	chr9:98226000-98251000	Weak transcription	Osteobl	bone
30	chr9:98226200-98228000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:98226200-98228200	Genic enhancers	Brain Substantia Nigra	brain
32	chr9:98226200-98228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:98226200-98229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:98226200-98229000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:98226200-98229000	Weak transcription	Colonic Mucosa	Colon
36	chr9:98226200-98229000	Weak transcription	Pancreas	Pancrea
37	chr9:98226200-98229000	Weak transcription	HSMMtube	muscle
38	chr9:98226200-98229200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:98226200-98229200	Weak transcription	Fetal Heart	heart
40	chr9:98226200-98229600	Weak transcription	Placenta	Placenta
41	chr9:98226200-98230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:98226200-98230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:98226200-98232400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr9:98226200-98238400	Weak transcription	NH-A	brain
45	chr9:98226200-98239000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:98226200-98239400	Weak transcription	NHEK	skin
47	chr9:98226200-98240800	Strong transcription	Fetal Intestine Large	intestine
48	chr9:98226200-98243400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:98226200-98254000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr9:98226400-98228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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