Variant report

Variant	esv20996
Chromosome Location	chr10:55318849-55328766
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	chr10:55313361..55315052-chr10:55318156..55320737,2	K562	blood:

Extended variants
information (count: 522 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs689581	chr10:55318856-55318857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376671305	chr10:55318877-55318878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539781121	chr10:55318883-55318884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180827601	chr10:55318937-55318938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184674163	chr10:55318950-55318951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151176235	chr10:55318988-55318989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577453661	chr10:55318989-55318990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543258061	chr10:55319025-55319026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563549182	chr10:55319028-55319029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35010388	chr10:55319129-55319130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189391848	chr10:55319159-55319160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542174774	chr10:55319188-55319189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575081865	chr10:55319193-55319194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145129241	chr10:55319198-55319199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561976601	chr10:55319209-55319210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527766041	chr10:55319211-55319212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138924383	chr10:55319225-55319226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564662442	chr10:55319231-55319232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140717920	chr10:55319285-55319286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147153213	chr10:55319310-55319311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145725620	chr10:55319312-55319313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140250343	chr10:55319313-55319314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58253062	chr10:55319314-55319315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201556751	chr10:55319315-55319316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200165268	chr10:55319317-55319318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201097115	chr10:55319318-55319319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181409902	chr10:55319333-55319334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137949356	chr10:55319359-55319360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116879810	chr10:55319388-55319389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs394770	chr10:55319395-55319396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150474986	chr10:55319400-55319401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202102131	chr10:55319419-55319420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149503551	chr10:55319420-55319421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200459855	chr10:55319422-55319423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201140205	chr10:55319423-55319424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397703557	chr10:55319425-55319426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138319817	chr10:55319434-55319435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534401948	chr10:55319464-55319465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149570141	chr10:55319498-55319499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577319888	chr10:55319522-55319523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs413137	chr10:55319542-55319543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs443931	chr10:55319592-55319593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs420314	chr10:55319617-55319618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs428563	chr10:55319634-55319635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185968020	chr10:55319656-55319657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs450492	chr10:55319754-55319755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576636340	chr10:55319782-55319783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541446742	chr10:55319812-55319813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564525278	chr10:55319848-55319849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533281917	chr10:55319864-55319865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55316000-55323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr10:55316200-55323800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:55320800-55321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55321200-55321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55321600-55324000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:55323800-55324000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr10:55323800-55324000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:55323800-55324800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:55324200-55324400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:55324800-55334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55325200-55325400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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