Variant report

Variant	nsv524814
Chromosome Location	chr10:53771085-53781507
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	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:
2	chr10:53780868..53783785-chr10:53785696..53788310,2	K562	blood:

Extended variants
information (count: 473 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs726195	chr10:53771085-53771086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558889107	chr10:53771132-53771133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10823952	chr10:53771139-53771140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114857723	chr10:53771154-53771155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182939835	chr10:53771197-53771198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80186523	chr10:53771230-53771231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550936892	chr10:53771319-53771320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568421177	chr10:53771379-53771380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142681531	chr10:53771432-53771433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114321144	chr10:53771451-53771452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186847370	chr10:53771453-53771454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566852608	chr10:53771466-53771467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539072000	chr10:53771537-53771538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147352975	chr10:53771538-53771539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71508098	chr10:53771572-53771573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs137961553	chr10:53771579-53771580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79050567	chr10:53771585-53771586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551678642	chr10:53771589-53771590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191286161	chr10:53771612-53771613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183531225	chr10:53771646-53771647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73339302	chr10:53771663-53771664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189390519	chr10:53771700-53771701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544717260	chr10:53771775-53771776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149493765	chr10:53771829-53771830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12571078	chr10:53771832-53771833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550670212	chr10:53771845-53771846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10762522	chr10:53771852-53771853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144783202	chr10:53771857-53771858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193072782	chr10:53771862-53771863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10762523	chr10:53771905-53771906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34470342	chr10:53771965-53771966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146679245	chr10:53771969-53771970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375805572	chr10:53771974-53771975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539033281	chr10:53771975-53771976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572166254	chr10:53771994-53771995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528885423	chr10:53772006-53772007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34119029	chr10:53772007-53772008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372477130	chr10:53772018-53772019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377378860	chr10:53772019-53772020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10740407	chr10:53772036-53772037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569245026	chr10:53772094-53772095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537918406	chr10:53772095-53772096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555066711	chr10:53772163-53772164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573478509	chr10:53772194-53772195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373275240	chr10:53772204-53772205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143042738	chr10:53772230-53772231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185399057	chr10:53772248-53772249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146143230	chr10:53772272-53772273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572846703	chr10:53772281-53772282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112003899	chr10:53772282-53772283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53770600-53771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:53770600-53771400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr10:53770600-53771600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr10:53770800-53771800	Enhancers	Aorta	Aorta
5	chr10:53771600-53778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:53771800-53778800	Weak transcription	Aorta	Aorta
7	chr10:53772200-53774800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:53774800-53775800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:53774800-53780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:53775000-53775600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr10:53775600-53778600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:53775800-53778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:53777200-53777400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:53777400-53778400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:53778000-53779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:53778000-53779200	Enhancers	Fetal Lung	lung
17	chr10:53778200-53778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr10:53778200-53781000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:53778400-53778800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:53778400-53779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:53778400-53779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:53778400-53780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:53778400-53781000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr10:53778400-53781200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr10:53778600-53779000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:53778600-53779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:53778600-53779200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:53778600-53779200	Enhancers	Fetal Kidney	kidney
29	chr10:53778600-53779600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr10:53778600-53781000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:53778800-53779000	Enhancers	Right Atrium	heart
32	chr10:53778800-53779200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr10:53778800-53779200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr10:53778800-53779200	Enhancers	Aorta	Aorta
35	chr10:53778800-53779800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:53779000-53779600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:53779000-53780000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:53779000-53790800	Weak transcription	Right Atrium	heart
39	chr10:53779200-53779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr10:53779200-53780000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:53779200-53780000	Weak transcription	Fetal Lung	lung
42	chr10:53779200-53780200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr10:53779200-53780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:53779200-53780400	Weak transcription	Aorta	Aorta
45	chr10:53779200-53781000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr10:53779600-53780000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:53779600-53780600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr10:53779600-53781400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr10:53779800-53780200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:53780000-53780200	Enhancers	Fetal Lung	lung

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