Variant report

Variant	nsv968732
Chromosome Location	chr9:97043511-97050792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97039772..97041932-chr9:97042019..97043715,2	MCF-7	breast:
2	chr9:97021382..97023099-chr9:97043453..97045247,2	MCF-7	breast:
3	chr9:97040959..97043614-chr9:97043619..97047501,3	K562	blood:

Variant related genes	Relation type
ENSG00000175787	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6479534	chr9:97043527-97043528	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117184537	chr9:97043599-97043600	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7874441	chr9:97043622-97043623	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7871267	chr9:97043649-97043650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs10435913	chr9:97043687-97043688	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528104903	chr9:97043749-97043750	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4481673	chr9:97043763-97043764	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574497541	chr9:97043806-97043807	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369875584	chr9:97043868-97043869	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558096924	chr9:97043875-97043876	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189027105	chr9:97043879-97043880	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144125004	chr9:97043915-97043916	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529542952	chr9:97043916-97043917	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550804544	chr9:97043931-97043932	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116738281	chr9:97043962-97043963	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372425721	chr9:97043965-97043966	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551872065	chr9:97044011-97044012	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182464409	chr9:97044029-97044030	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs36083433	chr9:97044035-97044036	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185657842	chr9:97044042-97044043	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7020359	chr9:97044074-97044075	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370747702	chr9:97044103-97044104	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551989772	chr9:97044176-97044177	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114327664	chr9:97044346-97044347	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557226744	chr9:97044389-97044390	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575532526	chr9:97044410-97044411	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572165769	chr9:97044448-97044449	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545645492	chr9:97044481-97044482	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2149234	chr9:97044518-97044519	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574118960	chr9:97044522-97044523	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190567531	chr9:97044540-97044541	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113674447	chr9:97044541-97044542	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386415516	chr9:97044548-97044549	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144401766	chr9:97044655-97044656	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564287317	chr9:97044698-97044699	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544384166	chr9:97044699-97044700	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540271289	chr9:97044752-97044753	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs118170090	chr9:97044768-97044769	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373314265	chr9:97044772-97044773	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181666777	chr9:97044795-97044796	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185853324	chr9:97044807-97044808	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571827013	chr9:97044839-97044840	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374570983	chr9:97044844-97044845	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114326352	chr9:97044849-97044850	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375231740	chr9:97044850-97044851	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148787952	chr9:97044871-97044872	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12337094	chr9:97044902-97044903	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190117557	chr9:97044941-97044942	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181056313	chr9:97044977-97044978	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561609345	chr9:97044985-97044986	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
2	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
4	chr9:97023000-97050000	Weak transcription	Right Ventricle	heart
5	chr9:97023000-97055400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:97030200-97048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:97031800-97050400	Weak transcription	Psoas Muscle	Psoas
8	chr9:97032400-97064600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:97033600-97054600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:97036800-97062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:97037400-97050200	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:97037600-97044600	Weak transcription	Fetal Stomach	stomach
13	chr9:97039200-97053600	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:97039200-97055000	Weak transcription	Brain Substantia Nigra	brain
15	chr9:97039200-97062600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:97039400-97054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:97039400-97067600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:97040000-97064600	Weak transcription	Brain Germinal Matrix	brain
19	chr9:97040400-97046000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:97040400-97046000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:97040400-97046000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr9:97040600-97043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:97040600-97044000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:97040600-97044000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:97040600-97044200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr9:97040600-97045400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr9:97040600-97046200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:97040600-97046600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr9:97040800-97043800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:97040800-97043800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:97040800-97044000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr9:97040800-97044000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr9:97041000-97043800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:97041200-97043600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr9:97041200-97043800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr9:97041200-97048400	Weak transcription	NH-A	brain
37	chr9:97041200-97050000	Weak transcription	Gastric	stomach
38	chr9:97041200-97051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:97041200-97054400	Weak transcription	NHDF-Ad	bronchial
40	chr9:97041200-97054600	Weak transcription	Stomach Mucosa	stomach
41	chr9:97041200-97065400	Weak transcription	Small Intestine	intestine
42	chr9:97041400-97050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:97041400-97053600	Weak transcription	HepG2	liver
44	chr9:97041600-97043600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr9:97041600-97043800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr9:97041800-97043600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr9:97041800-97043600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr9:97041800-97043600	ZNF genes & repeats	K562	blood
49	chr9:97041800-97043800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr9:97041800-97044000	ZNF genes & repeats	A549	lung

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