Variant report

Variant	nsv971861
Chromosome Location	chr10:37231652-37239745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:37237972-37238212	A549	lung:	n/a	n/a
2	CEBPB	chr10:37237969-37238202	A549	lung:	n/a	n/a
3	CEBPB	chr10:37237949-37238152	A549	lung:	n/a	n/a
4	CTCF	chr10:37232565-37232589	MCF-7	breast:	n/a	n/a
5	EGR1	chr10:37232106-37232318	GM12878	blood:	n/a	n/a
6	FOXA2	chr10:37237867-37238141	A549	lung:	n/a	n/a
7	FOXA2	chr10:37237939-37238177	A549	lung:	n/a	n/a
8	MYC	chr10:37232613-37232648	MCF-7	breast:	n/a	n/a
9	MYC	chr10:37231702-37231731	MCF-7	breast:	n/a	n/a
10	PAX5	chr10:37232135-37232308	GM12878	blood:	n/a	n/a
11	PAX5	chr10:37232011-37232277	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:37232144-37232267	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr10:37239209-37239394	MCF-7	breast:	n/a	n/a
14	POLR2A	chr10:37239228-37239339	A549	lung:	n/a	n/a
15	POLR2A	chr10:37232978-37233002	MCF-7	breast:	n/a	n/a
16	REST	chr10:37232121-37232276	PANC-1	pancreas:	n/a	n/a
17	REST	chr10:37232114-37232254	PANC-1	pancreas:	n/a	n/a
18	SIN3AK20	chr10:37232158-37232283	HepG2	liver:	n/a	n/a
19	SPI1	chr10:37232152-37232250	GM12878	blood:	n/a	n/a
20	SRF	chr10:37232161-37232281	GM12878	blood:	n/a	n/a
21	USF1	chr10:37232110-37232286	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37235121..37239271-chr11:80409881..80413135,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-4	chr10:37232650-37232860	XLOC_008452

No data

Variant related genes	Relation type
MKNK2P1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536469489	chr10:37232208-37232209	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185218410	chr10:37232243-37232244	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576123490	chr10:37232246-37232247	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538349529	chr10:37232282-37232283	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113094541	chr10:37232291-37232292	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138848887	chr10:37232295-37232296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375755966	chr10:37232304-37232305	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12785183	chr10:37232329-37232330	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111799564	chr10:37232386-37232387	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575002003	chr10:37232389-37232390	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12761676	chr10:37232415-37232416	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563714712	chr10:37232434-37232435	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532680093	chr10:37232513-37232514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552249210	chr10:37232558-37232559	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78698865	chr10:37232689-37232690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs147458276	chr10:37232715-37232716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs115432259	chr10:37232731-37232732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs536141255	chr10:37232736-37232737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533820170	chr10:37232738-37232739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549992079	chr10:37232772-37232773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569749464	chr10:37232780-37232781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538793839	chr10:37232786-37232787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189630392	chr10:37232817-37232818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs572134820	chr10:37232825-37232826	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs558545915	chr10:37232834-37232835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs181890469	chr10:37232838-37232839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs4934841	chr10:37238001-37238002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538667757	chr10:37238044-37238045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370835293	chr10:37238045-37238046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73248593	chr10:37238050-37238051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572819739	chr10:37238085-37238086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541354438	chr10:37238086-37238087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555195287	chr10:37238088-37238089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144040068	chr10:37238105-37238106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543959577	chr10:37238140-37238141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563463061	chr10:37238151-37238152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37232200-37232600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:37232200-37232600	Enhancers	Placenta	Placenta

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