Variant report

Variant	nsv828877
Chromosome Location	chr21:41118265-41118835
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	MAFK	chr21:41118707-41118812	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:41118789..41121502-chr21:41136765..41138744,2	MCF-7	breast:

Variant related genes	Relation type
IGSF5	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577533453	chr21:41118265-41118266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570473630	chr21:41118291-41118292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537898792	chr21:41118320-41118321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540246392	chr21:41118336-41118337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61040557	chr21:41118345-41118346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1735142	chr21:41118353-41118354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375789497	chr21:41118388-41118389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs412661	chr21:41118427-41118428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181560000	chr21:41118441-41118442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572336312	chr21:41118446-41118447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185824259	chr21:41118453-41118454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117088958	chr21:41118458-41118459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75698636	chr21:41118512-41118513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190147139	chr21:41118516-41118517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1735143	chr21:41118517-41118518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182363876	chr21:41118538-41118539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1235466	chr21:41118552-41118553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146574810	chr21:41118598-41118599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201830314	chr21:41118601-41118602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386818581	chr21:41118608-41118609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72380531	chr21:41118610-41118611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60227846	chr21:41118612-41118613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535985618	chr21:41118613-41118614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1235467	chr21:41118615-41118616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549144597	chr21:41118622-41118623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1235468	chr21:41118630-41118631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116797450	chr21:41118633-41118634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558003202	chr21:41118655-41118656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62235514	chr21:41118665-41118666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574470134	chr21:41118666-41118667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116613333	chr21:41118675-41118676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150770765	chr21:41118678-41118679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374533912	chr21:41118694-41118695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200789683	chr21:41118715-41118716	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2837148	chr21:41118783-41118784	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs413515	chr21:41118812-41118813	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562654832	chr21:41118834-41118835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41104200-41138400	Weak transcription	Pancreas	Pancrea
2	chr21:41107800-41119400	Enhancers	Placenta	Placenta
3	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:41115600-41122000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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