Variant report

Variant	esv2829924
Chromosome Location	chr10:55906112-56038831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
2	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
3	10:55527193-55535408..10:55949104-55956834	K562	blood:
4	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
5	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
6	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:

Extended variants
information (count: 856 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141886320	chr10:55919601-55919602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540691656	chr10:55919616-55919617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117591946	chr10:55919658-55919659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374221353	chr10:55919707-55919708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12245189	chr10:55919743-55919744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4539220	chr10:55919780-55919781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150570579	chr10:55919822-55919823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374398302	chr10:55919843-55919844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529087842	chr10:55919845-55919846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181156292	chr10:55919888-55919889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116204806	chr10:55919900-55919901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527816795	chr10:55919922-55919923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149387076	chr10:55919939-55919940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575369133	chr10:55919940-55919941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386743933	chr10:55919948-55919949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4480446	chr10:55919949-55919950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540132066	chr10:55919953-55919954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549493764	chr10:55920059-55920060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554883483	chr10:55920067-55920068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79818118	chr10:55920091-55920092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4348806	chr10:55920146-55920147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535687291	chr10:55920188-55920189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12248502	chr10:55920217-55920218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563434496	chr10:55920330-55920331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76318775	chr10:55920350-55920351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185842392	chr10:55920362-55920363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4636568	chr10:55920386-55920387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77607388	chr10:55920412-55920413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4295959	chr10:55920437-55920438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563257388	chr10:55920513-55920514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374051250	chr10:55920550-55920551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191757778	chr10:55920577-55920578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542439502	chr10:55920609-55920610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183639310	chr10:55920632-55920633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78922055	chr10:55920692-55920693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189028115	chr10:55920702-55920703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540829651	chr10:55920724-55920725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527776539	chr10:55920727-55920728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531964255	chr10:55920731-55920732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547956053	chr10:55920757-55920758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191825134	chr10:55920768-55920769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533371247	chr10:55920801-55920802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77130989	chr10:55920807-55920808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570275223	chr10:55920817-55920818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372643806	chr10:55920823-55920824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139582421	chr10:55920864-55920865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549294350	chr10:55920876-55920877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149710580	chr10:55920898-55920899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539413307	chr10:55920907-55920908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534370486	chr10:55920912-55920913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Cancer	20164919	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55919600-55920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:55920200-55923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:55926000-55926200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:55926200-55926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr10:55926200-55932400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:55926800-55929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:55929000-55929400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:55929000-55930600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:55930600-55932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:55932200-55932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:55932400-55932600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:55962800-55963600	Enhancers	HUVEC	blood vessel
13	chr10:55966600-55967000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:55987000-55987400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:55987400-55990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55988600-55990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:55990800-55991400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:55990800-55991600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:56000800-56001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:56000800-56002600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:56019000-56019200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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