Variant report

Variant	nsv1035173
Chromosome Location	chr10:55847066-56005288
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1641 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1641 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191296193	chr10:55847073-55847074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575121415	chr10:55847097-55847098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72797009	chr10:55847106-55847107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560196328	chr10:55847114-55847115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576722593	chr10:55847129-55847130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533269423	chr10:55847151-55847152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377309162	chr10:55847196-55847197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139855837	chr10:55847265-55847266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72797010	chr10:55847290-55847291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183842270	chr10:55847316-55847317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116873363	chr10:55847348-55847349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370561013	chr10:55847351-55847352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548109929	chr10:55847357-55847358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561510098	chr10:55847378-55847379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527502748	chr10:55847393-55847394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546733285	chr10:55847401-55847402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566967302	chr10:55847423-55847424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538800695	chr10:55847441-55847442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376612039	chr10:55847443-55847444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11004062	chr10:55847456-55847457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569303001	chr10:55847480-55847481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11004063	chr10:55847491-55847492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72797011	chr10:55847492-55847493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4433495	chr10:55847537-55847538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150564950	chr10:55847544-55847545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72797012	chr10:55847554-55847555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35904421	chr10:55847582-55847583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576868473	chr10:55847585-55847586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545606283	chr10:55847602-55847603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72797014	chr10:55847626-55847627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552383993	chr10:55847653-55847654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575646025	chr10:55847668-55847669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541691605	chr10:55847672-55847673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72797015	chr10:55847678-55847679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527457104	chr10:55847722-55847723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12245055	chr10:55847731-55847732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532616774	chr10:55847757-55847758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4508110	chr10:55847777-55847778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72797020	chr10:55849161-55849162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139753933	chr10:55849173-55849174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190038666	chr10:55849182-55849183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182264012	chr10:55849193-55849194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72797021	chr10:55849202-55849203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557177446	chr10:55849260-55849261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149889720	chr10:55849283-55849284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61858411	chr10:55849302-55849303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533509667	chr10:55849350-55849351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187186412	chr10:55849454-55849455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116510370	chr10:55849473-55849474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572363740	chr10:55849485-55849486	Enhancers	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55841400-55847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55847600-55847800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55849000-55849800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:55849400-55849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55851200-55852000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr10:55854000-55854400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:55854200-55854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:55862200-55862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:55862600-55863800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:55864000-55864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:55867200-55867400	Enhancers	Gastric	stomach
12	chr10:55869800-55870000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:55877000-55878000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:55880400-55881000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:55880600-55880800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:55880800-55884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:55881000-55883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:55883800-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:55884000-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:55884000-55884800	Enhancers	HMEC	breast
21	chr10:55884000-55885000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:55884000-55885800	Enhancers	NHEK	skin
23	chr10:55884600-55885000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:55884600-55885400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:55885000-55885400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:55889800-55890400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:55890200-55890600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr10:55890200-55890600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr10:55890600-55891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:55891600-55891800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:55891600-55892200	Enhancers	Fetal Heart	heart
34	chr10:55892200-55892400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr10:55897200-55898400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:55897400-55898600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr10:55898600-55899800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr10:55900200-55900400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:55900400-55900800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:55919600-55920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr10:55920200-55923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr10:55926000-55926200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:55926200-55926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:55926200-55932400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:55926800-55929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:55929000-55929400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:55929000-55930600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:55930600-55932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:55932200-55932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:55932400-55932600	Enhancers	HUES6 Cell Line	embryonic stem cell

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