Variant report

Variant	esv2762791
Chromosome Location	chr9:10253852-10325264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
2	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
3	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
4	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:
5	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:

Extended variants
information (count: 1517 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1517 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4143458	chr9:10253852-10253853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143749639	chr9:10253880-10253881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192982102	chr9:10253883-10253884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4143459	chr9:10253956-10253957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546174592	chr9:10253978-10253979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530981706	chr9:10254022-10254023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566098648	chr9:10254024-10254025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538750741	chr9:10254052-10254053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544894194	chr9:10254058-10254059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558324734	chr9:10254105-10254106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78794720	chr9:10254106-10254107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185674073	chr9:10254128-10254129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554947113	chr9:10254174-10254175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189423751	chr9:10254203-10254204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13293223	chr9:10254216-10254217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4741023	chr9:10254218-10254219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142050668	chr9:10254251-10254252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191210631	chr9:10254322-10254323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145905642	chr9:10254374-10254375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531980339	chr9:10254415-10254416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542036579	chr9:10254424-10254425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4741024	chr9:10254449-10254450	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs138632601	chr9:10254481-10254482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183499377	chr9:10254485-10254486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376065915	chr9:10254532-10254533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188234485	chr9:10254539-10254540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2498610	chr9:10254545-10254546	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552293266	chr9:10254551-10254552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377511722	chr9:10254578-10254579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373913482	chr9:10254587-10254588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79182378	chr9:10254612-10254613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538069299	chr9:10254638-10254639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554786592	chr9:10254646-10254647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546258509	chr9:10254662-10254663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10756018	chr9:10254669-10254670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs534100328	chr9:10254677-10254678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554060515	chr9:10254693-10254694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577176675	chr9:10254695-10254696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150300909	chr9:10254699-10254700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568139586	chr9:10254724-10254725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576443921	chr9:10254738-10254739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541887926	chr9:10254756-10254757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370727234	chr9:10254758-10254759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561967839	chr9:10254768-10254769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2498611	chr9:10254793-10254794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138072187	chr9:10254808-10254809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564433750	chr9:10254905-10254906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149537211	chr9:10254949-10254950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565478514	chr9:10254962-10254963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2498612	chr9:10254968-10254969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10251800-10254600	Weak transcription	Fetal Heart	heart
2	chr9:10252400-10254400	Weak transcription	Fetal Lung	lung
3	chr9:10253000-10254600	Weak transcription	Stomach Mucosa	stomach
4	chr9:10253400-10254600	Weak transcription	Fetal Brain Male	brain
5	chr9:10254400-10255000	Enhancers	Fetal Lung	lung
6	chr9:10254400-10255200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:10254600-10254800	Enhancers	Fetal Brain Female	brain
8	chr9:10254600-10255200	Enhancers	Stomach Mucosa	stomach
9	chr9:10254600-10255400	Enhancers	Fetal Heart	heart
10	chr9:10254800-10255000	Enhancers	Fetal Brain Male	brain
11	chr9:10255400-10255600	Enhancers	Fetal Brain Female	brain
12	chr9:10255400-10268600	Weak transcription	Fetal Heart	heart
13	chr9:10259800-10260400	Enhancers	Brain Substantia Nigra	brain
14	chr9:10259800-10263800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:10260000-10261400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:10260400-10260800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:10260400-10260800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:10260400-10260800	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:10263200-10264200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr9:10263800-10264000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:10263800-10264000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:10263800-10264200	ZNF genes & repeats	Pancreas	Pancrea
23	chr9:10264200-10271600	Weak transcription	Pancreas	Pancrea
24	chr9:10264600-10265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:10264600-10266200	Enhancers	HUVEC	blood vessel
26	chr9:10264800-10265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:10264800-10265400	Enhancers	NHEK	skin
28	chr9:10264800-10265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:10264800-10265800	Enhancers	NH-A	brain
30	chr9:10265000-10265600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:10265000-10265600	Enhancers	HMEC	breast
32	chr9:10265000-10265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:10265000-10266000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:10265200-10265600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:10265200-10265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:10265400-10268600	Weak transcription	NHEK	skin
37	chr9:10265600-10268400	Weak transcription	HMEC	breast
38	chr9:10265600-10269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:10265800-10268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:10265800-10268600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:10265800-10268600	Weak transcription	NH-A	brain
42	chr9:10266000-10269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:10266200-10268400	Weak transcription	HUVEC	blood vessel
44	chr9:10268400-10268600	Enhancers	Liver	Liver
45	chr9:10268400-10268600	Enhancers	Fetal Lung	lung
46	chr9:10268400-10268600	Enhancers	HUVEC	blood vessel
47	chr9:10268400-10269200	Enhancers	HMEC	breast
48	chr9:10268600-10268800	Active TSS	Brain Hippocampus Middle	brain
49	chr9:10268600-10269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr9:10268600-10269000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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