Variant report

Variant	nsv1049320
Chromosome Location	chr10:55102814-55138027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55105553..55107958-chr10:55109358..55111015,2	K562	blood:
2	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:
3	chr10:55105553..55107958-chr10:55109358..55111015,2	K562	blood:
4	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:

Extended variants
information (count: 1536 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1536 , 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	rs568859190	chr10:55102818-55102819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375789680	chr10:55102823-55102824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192166027	chr10:55102828-55102829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568192387	chr10:55102829-55102830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533973184	chr10:55102837-55102838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74134532	chr10:55102842-55102843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570614740	chr10:55102845-55102846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184752718	chr10:55102853-55102854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542578306	chr10:55102916-55102917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558650443	chr10:55102942-55102943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575252534	chr10:55103040-55103041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189518091	chr10:55103046-55103047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554621271	chr10:55103071-55103072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75588978	chr10:55103145-55103146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369210931	chr10:55103169-55103170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574637632	chr10:55103171-55103172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557981889	chr10:55103200-55103201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192205746	chr10:55103207-55103208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184358949	chr10:55103230-55103231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577414721	chr10:55103240-55103241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76115739	chr10:55103242-55103243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7084385	chr10:55103258-55103259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189345355	chr10:55103284-55103285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531312748	chr10:55103285-55103286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548255812	chr10:55103292-55103293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561758290	chr10:55103293-55103294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139599730	chr10:55103302-55103303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80071355	chr10:55103329-55103330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576450581	chr10:55103382-55103383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570647054	chr10:55103414-55103415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147617310	chr10:55103418-55103419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79745784	chr10:55103427-55103428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564894654	chr10:55103428-55103429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149743510	chr10:55103434-55103435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569641809	chr10:55103445-55103446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145485720	chr10:55103448-55103449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554582630	chr10:55103461-55103462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574549752	chr10:55103471-55103472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572049431	chr10:55103489-55103490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534301887	chr10:55103518-55103519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148397788	chr10:55103572-55103573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540922151	chr10:55103575-55103576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181363634	chr10:55103616-55103617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185491730	chr10:55103665-55103666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74134533	chr10:55103673-55103674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181592097	chr10:55103725-55103726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541807153	chr10:55103766-55103767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115676810	chr10:55103775-55103776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186146655	chr10:55103781-55103782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190811094	chr10:55103786-55103787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55096600-55104000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55098400-55103600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:55098600-55103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:55098800-55103600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:55098800-55103600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:55099400-55103800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:55103000-55104600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:55103600-55103800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:55103600-55104400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:55103600-55104400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:55103600-55104400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:55103600-55104400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:55103600-55104600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:55103600-55104600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:55103600-55104600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr10:55103800-55104400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:55103800-55104800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:55104000-55104400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55104400-55105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:55104400-55105800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:55104400-55108000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:55104400-55109400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:55104400-55117400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:55105800-55106000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:55106000-55106200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr10:55108000-55108200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:55109400-55109600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:55115800-55116000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr10:55116000-55116200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr10:55116000-55116400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:55116000-55117400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:55116000-55118400	Enhancers	HMEC	breast
33	chr10:55116200-55117200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:55116400-55116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:55116400-55116800	Enhancers	Fetal Heart	heart
36	chr10:55116400-55118000	Enhancers	NHEK	skin
37	chr10:55116400-55118600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:55116600-55117000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:55116800-55117200	Weak transcription	Fetal Heart	heart
40	chr10:55116800-55117800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:55116800-55117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:55116800-55118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr10:55116800-55118200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:55117000-55117400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:55117000-55119400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:55117200-55117800	Enhancers	Fetal Heart	heart
47	chr10:55117200-55118400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr10:55117200-55119400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:55117200-55119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:55117200-55119600	Enhancers	HUES64 Cell Line	embryonic stem cell

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