Variant report

Variant	esv3367662
Chromosome Location	chr10:58926008-58972421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:
2	chr10:58957814..58958334-chr4:116457976..116458496,2	MCF-7	breast:
3	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:

Extended variants
information (count: 2143 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2143 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143147531	chr10:58926015-58926016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552651604	chr10:58926038-58926039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574375364	chr10:58926042-58926043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541505421	chr10:58926059-58926060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148216420	chr10:58926179-58926180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75579775	chr10:58926196-58926197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373827381	chr10:58926227-58926228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575640884	chr10:58926281-58926282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545995361	chr10:58926309-58926310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141185600	chr10:58926310-58926311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553385754	chr10:58926319-58926320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528556061	chr10:58926329-58926330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573514872	chr10:58926344-58926345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77287446	chr10:58926347-58926348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150329492	chr10:58926364-58926365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529278997	chr10:58926369-58926370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111519788	chr10:58926387-58926388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569511185	chr10:58926398-58926399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528795391	chr10:58926421-58926422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12259537	chr10:58926422-58926423	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374207892	chr10:58926455-58926456	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577780167	chr10:58926475-58926476	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189537359	chr10:58926528-58926529	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553026717	chr10:58926548-58926549	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550123763	chr10:58926568-58926569	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535411067	chr10:58926570-58926571	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs137857850	chr10:58926572-58926573	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575577535	chr10:58926577-58926578	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11005675	chr10:58926581-58926582	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557938894	chr10:58926619-58926620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113231578	chr10:58926630-58926631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573072344	chr10:58926668-58926669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540095579	chr10:58926669-58926670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117573272	chr10:58926690-58926691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs72801942	chr10:58926692-58926693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181541299	chr10:58926706-58926707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113952010	chr10:58926708-58926709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142362116	chr10:58926724-58926725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11005676	chr10:58926778-58926779	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566868783	chr10:58926811-58926812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569888648	chr10:58926813-58926814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146390774	chr10:58926860-58926861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536596830	chr10:58926911-58926912	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs117715661	chr10:58926913-58926914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568122928	chr10:58926920-58926921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535216581	chr10:58926969-58926970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538942343	chr10:58926984-58926985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11498142	chr10:58926995-58926996	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568876146	chr10:58926998-58926999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185837677	chr10:58927070-58927071	Weak transcription ZNF genes & repeats	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
Obesity	21956041	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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58924800-58926200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr10:58925000-58926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:58925800-58926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:58926000-58926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:58926400-58927200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:58926600-58927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr10:58927200-58928200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:58927800-58928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:58928200-58929000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:58930200-58959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:58932400-58932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:58932800-58933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:58933000-58947200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:58936400-58937200	Enhancers	Fetal Brain Female	brain
15	chr10:58945800-58946200	Enhancers	Fetal Kidney	kidney
16	chr10:58945800-58946400	Enhancers	Fetal Lung	lung
17	chr10:58947800-58949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:58952400-58968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:58959000-58960000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:58959200-58960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:58960200-58966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:58963600-58963800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:58963800-58970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:58966600-58967400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:58967400-58970600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:58968400-58969200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:58969200-58970800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:58970000-58973400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr10:58970600-58971000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:58970600-58972200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr10:58970800-58971200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:58970800-58972200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr10:58971000-58972600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr10:58971200-58972000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:58971400-58972000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:58972000-58972800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:58972000-58978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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