Variant report

Variant	nsv870252
Chromosome Location	chr10:55823123-56029435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	10:55597627-55602376..10:55882057-55892580	GM12878	blood:
2	chr10:55852698..55855311-chr10:55858016..55859991,2	K562	blood:
3	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
4	10:55597627-55602376..10:55871238-55872736	GM12878	blood:
5	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:
6	10:55597627-55602376..10:55892580-55896204	H1-hESC	embryonic stem cell:	embryo
7	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
8	chr10:55823359..55824175-chr19:17974771..17975362,2	MCF-7	breast:
9	chr10:55852698..55855311-chr10:55858016..55859991,2	K562	blood:
10	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
11	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
12	10:55527193-55535408..10:55949104-55956834	K562	blood:

No data

Extended variants
information (count: 2171 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2171 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138999599	chr10:55823164-55823165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530022762	chr10:55823181-55823182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371352912	chr10:55823216-55823217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144054268	chr10:55823272-55823273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75468395	chr10:55823278-55823279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75942515	chr10:55823279-55823280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146462947	chr10:55823288-55823289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185626638	chr10:55823329-55823330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72794984	chr10:55823351-55823352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114467849	chr10:55823353-55823354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538818745	chr10:55823361-55823362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551884718	chr10:55823363-55823364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2384373	chr10:55823424-55823425	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374965601	chr10:55823436-55823437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144444360	chr10:55823453-55823454	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566947370	chr10:55823472-55823473	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117865372	chr10:55823531-55823532	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369692460	chr10:55823543-55823544	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112048794	chr10:55823544-55823545	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575321191	chr10:55823559-55823560	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544184234	chr10:55823564-55823565	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554616607	chr10:55823576-55823577	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574526044	chr10:55823599-55823600	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530977811	chr10:55823642-55823643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540531433	chr10:55823643-55823644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560426365	chr10:55823675-55823676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73235800	chr10:55823700-55823701	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs180879394	chr10:55823705-55823706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569086864	chr10:55823717-55823718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565204843	chr10:55823719-55823720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531037633	chr10:55823773-55823774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550520151	chr10:55823787-55823788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368806857	chr10:55823807-55823808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560935281	chr10:55823824-55823825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530079317	chr10:55823860-55823861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372564243	chr10:55823913-55823914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145349463	chr10:55823925-55823926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149219927	chr10:55823970-55823971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143374021	chr10:55823977-55823978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568822460	chr10:55824093-55824094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148304256	chr10:55824112-55824113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554751948	chr10:55824140-55824141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574463331	chr10:55824157-55824158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12257494	chr10:55824176-55824177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs370264994	chr10:55824194-55824195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553748557	chr10:55824230-55824231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577088092	chr10:55824240-55824241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs545632948	chr10:55824296-55824297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562712493	chr10:55824299-55824300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114708659	chr10:55824302-55824303	ZNF genes & repeats	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55822400-55823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55823200-55823400	Weak transcription	Pancreas	Pancrea
3	chr10:55823200-55823600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:55823400-55823600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:55823400-55823800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:55823600-55823800	Weak transcription	Pancreas	Pancrea
7	chr10:55823800-55824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:55824200-55824800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:55824600-55824800	Enhancers	Pancreas	Pancrea
10	chr10:55826400-55828200	Enhancers	Liver	Liver
11	chr10:55838600-55839200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:55839000-55839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:55839200-55841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:55839400-55841600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:55841400-55842400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:55841400-55847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:55841600-55842000	Enhancers	NH-A	brain
18	chr10:55841600-55842400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:55841800-55842200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:55841800-55842200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:55846000-55846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:55847600-55847800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:55849000-55849800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:55849400-55849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:55851200-55852000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr10:55854000-55854400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:55854200-55854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr10:55862200-55862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:55862600-55863800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:55864000-55864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:55867200-55867400	Enhancers	Gastric	stomach
32	chr10:55869800-55870000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:55877000-55878000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:55880400-55881000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:55880600-55880800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:55880800-55884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:55881000-55883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:55883800-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:55884000-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:55884000-55884800	Enhancers	HMEC	breast
41	chr10:55884000-55885000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:55884000-55885800	Enhancers	NHEK	skin
43	chr10:55884600-55885000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:55884600-55885400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:55885000-55885400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:55889800-55890400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr10:55890200-55890600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:55890200-55890600	Enhancers	Placenta Amnion	Placenta Amnion

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