Variant report

Variant	nsv428557
Chromosome Location	chr10:55815334-55988225
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	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
2	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
3	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
4	chr10:55823359..55824175-chr19:17974771..17975362,2	MCF-7	breast:
5	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:
6	10:55597627-55602376..10:55882057-55892580	GM12878	blood:
7	chr10:55852698..55855311-chr10:55858016..55859991,2	K562	blood:
8	chr10:55852698..55855311-chr10:55858016..55859991,2	K562	blood:
9	10:55597627-55602376..10:55871238-55872736	GM12878	blood:
10	10:55527193-55535408..10:55949104-55956834	K562	blood:
11	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
12	10:55597627-55602376..10:55892580-55896204	H1-hESC	embryonic stem cell:	embryo

No data

Extended variants
information (count: 2054 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536100368	chr10:55816012-55816013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372582973	chr10:55816034-55816035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190320647	chr10:55816048-55816049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147405966	chr10:55816090-55816091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541399982	chr10:55816121-55816122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78944928	chr10:55816139-55816140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28701623	chr10:55816173-55816174	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139627770	chr10:55816191-55816192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534205178	chr10:55816203-55816204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529196311	chr10:55816235-55816236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs563866916	chr10:55816243-55816244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12251985	chr10:55816251-55816252	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182246199	chr10:55816295-55816296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558996170	chr10:55816322-55816323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528189397	chr10:55816333-55816334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115116934	chr10:55816335-55816336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570914883	chr10:55816358-55816359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559342111	chr10:55816370-55816371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10763059	chr10:55816415-55816416	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116105924	chr10:55816424-55816425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12252125	chr10:55816459-55816460	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569840622	chr10:55816468-55816469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs139613443	chr10:55816477-55816478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553216437	chr10:55816506-55816507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10825211	chr10:55816545-55816546	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535125063	chr10:55816568-55816569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12252197	chr10:55816570-55816571	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577961171	chr10:55816581-55816582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35326577	chr10:55816619-55816620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186502895	chr10:55816630-55816631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189669946	chr10:55816646-55816647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574274787	chr10:55816652-55816653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12250607	chr10:55816659-55816660	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12243005	chr10:55816698-55816699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12257312	chr10:55816731-55816732	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12250681	chr10:55816790-55816791	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530512684	chr10:55816792-55816793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550336678	chr10:55816805-55816806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561199094	chr10:55816814-55816815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182335283	chr10:55816883-55816884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185670514	chr10:55816886-55816887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12244555	chr10:55816897-55816898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs80298394	chr10:55816901-55816902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34903325	chr10:55816911-55816912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576127613	chr10:55816921-55816922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs12253866	chr10:55816969-55816970	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11004024	chr10:55816981-55816982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12258948	chr10:55816988-55816989	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571684750	chr10:55816999-55817000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573825636	chr10:55817049-55817050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55816000-55816800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr10:55816800-55817200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55817400-55818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:55822400-55823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:55823200-55823400	Weak transcription	Pancreas	Pancrea
6	chr10:55823200-55823600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:55823400-55823600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:55823400-55823800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:55823600-55823800	Weak transcription	Pancreas	Pancrea
10	chr10:55823800-55824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:55824200-55824800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:55824600-55824800	Enhancers	Pancreas	Pancrea
13	chr10:55826400-55828200	Enhancers	Liver	Liver
14	chr10:55838600-55839200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:55839000-55839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:55839200-55841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:55839400-55841600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:55841400-55842400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:55841400-55847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:55841600-55842000	Enhancers	NH-A	brain
21	chr10:55841600-55842400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:55841800-55842200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr10:55841800-55842200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:55846000-55846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:55847600-55847800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:55849000-55849800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:55849400-55849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:55851200-55852000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr10:55854000-55854400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr10:55854200-55854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:55862200-55862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:55862600-55863800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:55864000-55864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:55867200-55867400	Enhancers	Gastric	stomach
35	chr10:55869800-55870000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:55877000-55878000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:55880400-55881000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:55880600-55880800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:55880800-55884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:55881000-55883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:55883800-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:55884000-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:55884000-55884800	Enhancers	HMEC	breast
44	chr10:55884000-55885000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:55884000-55885800	Enhancers	NHEK	skin
46	chr10:55884600-55885000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:55884600-55885400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:55885000-55885400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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