Variant report

Variant	esv3693055
Chromosome Location	chr10:55118404-55137321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:

Extended variants
information (count: 845 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12251771	chr10:55118404-55118405	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537580085	chr10:55118413-55118414	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12266915	chr10:55118441-55118442	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528067696	chr10:55118442-55118443	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550971658	chr10:55118445-55118446	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553485020	chr10:55118531-55118532	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571227042	chr10:55118597-55118598	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186144448	chr10:55118607-55118608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190805180	chr10:55118639-55118640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567434145	chr10:55118768-55118769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370392124	chr10:55118796-55118797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12252041	chr10:55118816-55118817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12245300	chr10:55118824-55118825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533567506	chr10:55118840-55118841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573187493	chr10:55118850-55118851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534971194	chr10:55118864-55118865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558202970	chr10:55118909-55118910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560556162	chr10:55118910-55118911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11003591	chr10:55118969-55118970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111868231	chr10:55118979-55118980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563657057	chr10:55119022-55119023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149759534	chr10:55119036-55119037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12266888	chr10:55119042-55119043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555953952	chr10:55119074-55119075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145766786	chr10:55119154-55119155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550928836	chr10:55119169-55119170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113167333	chr10:55119170-55119171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370880871	chr10:55119231-55119232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530452660	chr10:55119233-55119234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550649912	chr10:55119243-55119244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567291414	chr10:55119310-55119311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371230503	chr10:55119338-55119339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143709033	chr10:55119350-55119351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566742444	chr10:55119366-55119367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185906957	chr10:55119379-55119380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200802881	chr10:55119404-55119405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34927820	chr10:55119405-55119406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201766465	chr10:55119406-55119407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558611334	chr10:55119417-55119418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16937406	chr10:55119446-55119447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374390676	chr10:55119493-55119494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537095410	chr10:55119509-55119510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557415859	chr10:55119515-55119516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371821289	chr10:55119516-55119517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11003592	chr10:55119521-55119522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11003593	chr10:55119570-55119571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147623919	chr10:55119582-55119583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142133378	chr10:55119593-55119594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560215071	chr10:55119594-55119595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116153269	chr10:55119690-55119691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55116400-55118600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:55117000-55119400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr10:55117200-55119400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:55117200-55119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr10:55117200-55119600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:55117400-55118600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:55117400-55118600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr10:55117400-55118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:55117400-55119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:55117400-55119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:55117600-55119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:55117600-55130000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:55118000-55118600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:55118600-55119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:55118600-55124600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:55119200-55121800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:55119400-55120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:55119400-55124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:55119400-55124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:55119600-55124600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:55120000-55120200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr10:55120600-55123600	Enhancers	Liver	Liver
23	chr10:55121200-55122200	Enhancers	HepG2	liver
24	chr10:55121400-55122000	Enhancers	Adipose Nuclei	Adipose
25	chr10:55121800-55122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:55122200-55124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:55124400-55124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr10:55124600-55124800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr10:55124600-55125000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:55124600-55125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:55124600-55125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:55124600-55125200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:55124600-55125400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:55125000-55130000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:55129800-55130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:55130000-55130400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:55130000-55130400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:55130000-55130800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:55130400-55136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:55130800-55141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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