Variant report

Variant	esv2761269
Chromosome Location	chr9:16454393-16462098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 382 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575932740	chr9:16454402-16454403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7856233	chr9:16454412-16454413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564692132	chr9:16454430-16454431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528829466	chr9:16454441-16454442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547249803	chr9:16454478-16454479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374798125	chr9:16454516-16454517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188531377	chr9:16454572-16454573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529213341	chr9:16454577-16454578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539405237	chr9:16454617-16454618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550682441	chr9:16454638-16454639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568961624	chr9:16454653-16454654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180989752	chr9:16454691-16454692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551996266	chr9:16454704-16454705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151074100	chr9:16454714-16454715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373590374	chr9:16454723-16454724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185220095	chr9:16454782-16454783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144763009	chr9:16454799-16454800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574654316	chr9:16454805-16454806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191225388	chr9:16454821-16454822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553216909	chr9:16454834-16454835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34045499	chr9:16454864-16454865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373411208	chr9:16454882-16454883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567979955	chr9:16454894-16454895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138560378	chr9:16454913-16454914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552989115	chr9:16454916-16454917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557097610	chr9:16454935-16454936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575450085	chr9:16454941-16454942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375117668	chr9:16454942-16454943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112142313	chr9:16454975-16454976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112156462	chr9:16454976-16454977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35750662	chr9:16455000-16455001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74343779	chr9:16455017-16455018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562376824	chr9:16455038-16455039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568055879	chr9:16455046-16455047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369805900	chr9:16455055-16455056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79013222	chr9:16455071-16455072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373257174	chr9:16455077-16455078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562535634	chr9:16455137-16455138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377643121	chr9:16455161-16455162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113150795	chr9:16455204-16455205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144067934	chr9:16455218-16455219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551833987	chr9:16455247-16455248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570590087	chr9:16455257-16455258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77470745	chr9:16455265-16455266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572903310	chr9:16455305-16455306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568299038	chr9:16455315-16455316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535738242	chr9:16455316-16455317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111615187	chr9:16455352-16455353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191601720	chr9:16455390-16455391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377418645	chr9:16455408-16455409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16421800-16460400	Weak transcription	Aorta	Aorta
2	chr9:16437400-16459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:16438800-16458800	Weak transcription	HSMM	muscle
4	chr9:16442800-16455800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:16446000-16458800	Weak transcription	NHLF	lung
6	chr9:16446400-16458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:16447000-16457600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:16447000-16458400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:16449200-16459200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:16451000-16456400	Weak transcription	Ovary	ovary
11	chr9:16451000-16458000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:16452200-16457800	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:16452200-16458600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:16453800-16457400	Weak transcription	GM12878-XiMat	blood
15	chr9:16453800-16458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:16454000-16455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:16455800-16457800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:16456000-16456200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:16456000-16456600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:16456200-16456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:16456200-16456400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:16456200-16456600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:16456200-16456800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:16456200-16456800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:16456400-16456600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:16456400-16458200	Enhancers	Ovary	ovary
27	chr9:16456400-16458800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:16456600-16456800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:16456600-16456800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:16456600-16456800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:16456600-16457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:16456600-16458000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:16456600-16461200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:16456800-16457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:16456800-16458800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:16456800-16458800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:16456800-16459000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:16456800-16460600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:16457200-16457600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:16457200-16458200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:16457400-16457600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:16457400-16457800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:16457400-16458200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:16457400-16462600	Enhancers	GM12878-XiMat	blood
45	chr9:16457600-16457800	Enhancers	Psoas Muscle	Psoas
46	chr9:16457600-16458800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:16457600-16458800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:16457600-16463200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:16457800-16458000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:16457800-16458000	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links