Variant report

Variant	esv2762860
Chromosome Location	chr10:45411165-45412956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45402937..45405855-chr10:45407880..45411438,3	K562	blood:
2	chr10:45398629..45401075-chr10:45411159..45413605,2	MCF-7	breast:
3	chr10:45404325..45406097-chr10:45412263..45414600,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10793566	chr10:45411165-45411166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548311627	chr10:45411174-45411175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566519669	chr10:45411222-45411223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533978969	chr10:45411349-45411350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190136704	chr10:45411352-45411353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113076521	chr10:45411385-45411386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143397674	chr10:45411402-45411403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146734497	chr10:45411427-45411428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201291493	chr10:45411432-45411433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56069251	chr10:45411437-45411438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4948929	chr10:45411453-45411454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs7095112	chr10:45411476-45411477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572827671	chr10:45411478-45411479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543523380	chr10:45411500-45411501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540242141	chr10:45411514-45411515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565404624	chr10:45411535-45411536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12246173	chr10:45411555-45411556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112163836	chr10:45411597-45411598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563084087	chr10:45411615-45411616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570124836	chr10:45411621-45411622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530271512	chr10:45411683-45411684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548273486	chr10:45411690-45411691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560216781	chr10:45411714-45411715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74762874	chr10:45411724-45411725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558946299	chr10:45411739-45411740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572799384	chr10:45411758-45411759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188825229	chr10:45411767-45411768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571425606	chr10:45411786-45411787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538904280	chr10:45411796-45411797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550639451	chr10:45411889-45411890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569027698	chr10:45411940-45411941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536451639	chr10:45411942-45411943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117024370	chr10:45411986-45411987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116640634	chr10:45412040-45412041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533740495	chr10:45412087-45412088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114087403	chr10:45412135-45412136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576796867	chr10:45412165-45412166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11239278	chr10:45412166-45412167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563086591	chr10:45412167-45412168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574646058	chr10:45412229-45412230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191516503	chr10:45412265-45412266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148226346	chr10:45412271-45412272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184164804	chr10:45412307-45412308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187990683	chr10:45412367-45412368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12764837	chr10:45412403-45412404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111687407	chr10:45412410-45412411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143310971	chr10:45412444-45412445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376288717	chr10:45412470-45412471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192415516	chr10:45412474-45412475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531653892	chr10:45412480-45412481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
2	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:45407200-45411600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:45407600-45411400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:45407800-45422800	Weak transcription	Ovary	ovary
6	chr10:45408600-45417200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:45409400-45411400	Enhancers	Fetal Thymus	thymus
8	chr10:45409600-45411200	Weak transcription	Fetal Kidney	kidney
9	chr10:45409600-45411800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr10:45409600-45412800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:45409800-45412600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:45410000-45411400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:45410000-45412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:45410000-45419000	Weak transcription	Pancreas	Pancrea
15	chr10:45410200-45411400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:45410200-45430400	Weak transcription	Gastric	stomach
17	chr10:45410400-45412400	Weak transcription	Fetal Heart	heart
18	chr10:45410600-45419600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:45411000-45413000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:45411200-45412400	Enhancers	Fetal Kidney	kidney
21	chr10:45411600-45412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:45412400-45412800	Weak transcription	Fetal Kidney	kidney
23	chr10:45412400-45413000	Enhancers	Fetal Heart	heart
24	chr10:45412600-45413400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:45412800-45413200	Strong transcription	Fetal Kidney	kidney

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