Variant report

Variant	nsv527487
Chromosome Location	chr10:90826252-90830468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:90826200-90826350	HFF-Myc	foreskin:	n/a	n/a
2	MAFK	chr10:90827930-90828109	HepG2	liver:	n/a	chr10:90827985-90828000

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90823092..90827245-chr10:90827985..90830928,3	K562	blood:

Variant related genes	Relation type
MIR4679-1	TF binding region
ENSG00000265375	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1937334	chr10:90826252-90826253	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368238636	chr10:90826276-90826277	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79710666	chr10:90826292-90826293	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186809052	chr10:90826307-90826308	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538102069	chr10:90826330-90826331	Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77318274	chr10:90826367-90826368	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs191285027	chr10:90826375-90826376	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs145485152	chr10:90826385-90826386	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs11814780	chr10:90826390-90826391	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11202953	chr10:90826469-90826470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72810957	chr10:90826474-90826475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74147171	chr10:90826493-90826494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575960256	chr10:90826541-90826542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1937333	chr10:90826547-90826548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545106096	chr10:90826553-90826554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562866386	chr10:90826554-90826555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577794994	chr10:90826578-90826579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545232396	chr10:90826591-90826592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78616934	chr10:90826622-90826623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34988216	chr10:90826725-90826726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115268918	chr10:90826736-90826737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549218725	chr10:90826752-90826753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561300881	chr10:90826771-90826772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1937332	chr10:90826779-90826780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
25	rs371552123	chr10:90826786-90826787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550077479	chr10:90826789-90826790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571597501	chr10:90826850-90826851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563523950	chr10:90826854-90826855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547656453	chr10:90826857-90826858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565742804	chr10:90826940-90826941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145599477	chr10:90826954-90826955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537848924	chr10:90826966-90826967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75761321	chr10:90827026-90827027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373943658	chr10:90827033-90827034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575966740	chr10:90827062-90827063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552268802	chr10:90827074-90827075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79951212	chr10:90827101-90827102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10509563	chr10:90827116-90827117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs545193772	chr10:90827121-90827122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9325605	chr10:90827161-90827162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530724988	chr10:90827168-90827169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74147174	chr10:90827213-90827214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548865514	chr10:90827242-90827243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199942573	chr10:90827246-90827247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397845299	chr10:90827248-90827249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200727573	chr10:90827249-90827250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76153758	chr10:90827312-90827313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547674114	chr10:90827373-90827374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56089908	chr10:90827396-90827397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534560469	chr10:90827419-90827420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90801400-90829400	Weak transcription	Aorta	Aorta
2	chr10:90823000-90833600	Weak transcription	Ovary	ovary
3	chr10:90825000-90827600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:90825200-90829400	Weak transcription	Adipose Nuclei	Adipose
5	chr10:90825200-90829400	Weak transcription	Small Intestine	intestine
6	chr10:90825200-90833400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:90825600-90833200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:90825800-90826400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:90826200-90826600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:90827600-90828000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:90828000-90828200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:90828000-90828200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:90828000-90829400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:90828200-90829400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:90829400-90829600	Enhancers	Small Intestine	intestine
16	chr10:90829400-90829800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:90829400-90829800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr10:90829400-90829800	Enhancers	Adipose Nuclei	Adipose
19	chr10:90829400-90829800	Enhancers	Aorta	Aorta
20	chr10:90829600-90830000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr10:90829800-90833600	Weak transcription	Adipose Nuclei	Adipose
22	chr10:90830200-90830800	Enhancers	Brain Germinal Matrix	brain
23	chr10:90830400-90841800	Weak transcription	Left Ventricle	heart

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