Variant report

Variant	nsv540075
Chromosome Location	chr9:16921985-16976699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1605 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556415286	chr9:16921999-16922000	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541944978	chr9:16922041-16922042	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563297148	chr9:16922047-16922048	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530820196	chr9:16922060-16922061	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182762511	chr9:16922111-16922112	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550041817	chr9:16922139-16922140	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78658165	chr9:16922153-16922154	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146981520	chr9:16922171-16922172	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78807532	chr9:16922173-16922174	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565898151	chr9:16922186-16922187	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536323786	chr9:16922204-16922205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148295010	chr9:16922209-16922210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373741599	chr9:16922230-16922231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76570602	chr9:16922231-16922232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536686875	chr9:16922242-16922243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527753383	chr9:16922259-16922260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561937269	chr9:16922283-16922284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559198862	chr9:16922304-16922305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34695931	chr9:16922305-16922306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577503568	chr9:16922331-16922332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377728097	chr9:16922343-16922344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535344493	chr9:16922380-16922381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553125460	chr9:16922387-16922388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114812269	chr9:16922454-16922455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543153609	chr9:16922460-16922461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138158042	chr9:16922464-16922465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575593206	chr9:16922471-16922472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545904819	chr9:16922493-16922494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187394505	chr9:16922516-16922517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115488871	chr9:16922557-16922558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561414969	chr9:16922558-16922559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547735645	chr9:16922585-16922586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559539935	chr9:16922615-16922616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73424762	chr9:16922630-16922631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531923085	chr9:16922662-16922663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550141007	chr9:16922666-16922667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371074598	chr9:16922668-16922669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142042525	chr9:16922692-16922693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145901148	chr9:16922734-16922735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563036258	chr9:16922747-16922748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537037315	chr9:16922761-16922762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551854492	chr9:16922769-16922770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570452215	chr9:16922816-16922817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148185290	chr9:16922864-16922865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553262119	chr9:16922866-16922867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373897635	chr9:16922868-16922869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113713675	chr9:16922918-16922919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535700039	chr9:16922923-16922924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193161369	chr9:16922928-16922929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183642353	chr9:16922949-16922950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16912800-16928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:16915800-16923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:16915800-16928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:16921600-16922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:16921600-16922200	Enhancers	NHDF-Ad	bronchial
6	chr9:16921600-16922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:16921600-16923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:16921800-16922000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr9:16921800-16922000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr9:16921800-16922200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr9:16921800-16922200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:16921800-16922200	Enhancers	A549	lung
13	chr9:16921800-16922200	Enhancers	NHEK	skin
14	chr9:16921800-16922200	Enhancers	Osteobl	bone
15	chr9:16921800-16922400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:16922200-16924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:16922400-16923400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:16922800-16923800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:16923400-16924000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:16923600-16924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:16923600-16925200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:16923800-16924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:16923800-16927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:16924000-16924200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr9:16924400-16925000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:16924400-16925200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:16925000-16928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:16925200-16927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:16927800-16928400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:16927800-16928400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:16927800-16930000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:16928000-16928400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:16928000-16928400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:16928000-16928600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:16928000-16928600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:16928000-16929000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:16928200-16928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:16928200-16928600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:16928200-16928600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:16928200-16928600	Enhancers	NHDF-Ad	bronchial
41	chr9:16928200-16929000	Enhancers	Osteobl	bone
42	chr9:16928400-16928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:16928600-16933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:16933600-16934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:16933600-16934400	Enhancers	Ovary	ovary
46	chr9:16943000-16943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:16949800-16950400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:16949800-16950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:16950200-16950600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:16950200-16950600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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