Variant report

Variant	nsv947846
Chromosome Location	chr10:37416318-37425320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:37418889-37418975	Lung_OC	lung:	n/a	n/a
2	CTCF	chr10:37423479-37423562	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr10:37424265-37424332	GM10248	blood:	n/a	n/a
4	FOXA2	chr10:37418415-37418988	A549	lung:	n/a	chr10:37418762-37418774
5	POLR2A	chr10:37421793-37421872	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:37421775-37421932	ProgFib	skin:	n/a	n/a
7	POLR2A	chr10:37420540-37420690	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:37422770-37422944	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr10:37420286-37420607	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr10:37418341-37418659	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF12	chr10:37418479-37419066	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:37418731-37418781	CMK	blood:	n/a
2	chr10:37418731-37418781	IMR90	lung:	fetal
3	chr10:37418731-37418781	Hela-S3	cervix:	n/a
4	chr10:37418731-37418781	Hepatocyte	liver:	n/a
5	chr10:37418731-37418781	PANC-1	pancreas:	n/a
6	chr10:37418731-37418781	Jurkat	blood:	n/a
7	chr10:37418731-37418781	MCF-7	breast:	n/a
8	chr10:37418731-37418781	PFSK-1	brain:	n/a
9	chr10:37418731-37418781	HCM	heart:	n/a
10	chr10:37418731-37418781	HIPEpiC	eye:	n/a
11	chr10:37418731-37418781	BJ	skin:	n/a
12	chr10:37418731-37418781	SAEC	small airway:	n/a
13	chr10:37418731-37418781	RPTEC	kidney:	n/a
14	chr10:37418731-37418781	GM12878	blood:	n/a
15	chr10:37418731-37418781	HNPCEpiC	eye:	n/a
16	chr10:37418731-37418781	HCF	heart:	n/a
17	chr10:37418731-37418781	AG09309	skin:	n/a
18	chr10:37418731-37418781	HEEpiC	esophagus:	n/a
19	chr10:37418731-37418781	HCPEpiC	choroid plexus:	n/a
20	chr10:37418731-37418781	U87	brain:	n/a
21	chr10:37418731-37418781	PrEC	prostate:	n/a
22	chr10:37418731-37418781	AG10803	skin:	n/a
23	chr10:37418731-37418781	HCT-116	colon:	n/a
24	chr10:37418731-37418781	HMEC	breast:	n/a
25	chr10:37418731-37418781	AG04449	skin:	fetal
26	chr10:37418731-37418781	MCF10A-Er-Src	breast:	n/a
27	chr10:37418731-37418781	HEK293	kidney:	embryo
28	chr10:37418731-37418781	HAEpiC	amniotic membrane:	n/a
29	chr10:37418731-37418781	NT2-D1	testis:	n/a
30	chr10:37418731-37418781	SK-N-MC	brain:	n/a
31	chr10:37418731-37418781	GM06990	blood:	n/a
32	chr10:37418731-37418781	GM12892	blood:	n/a
33	chr10:37418731-37418781	GM19239	blood:	n/a
34	chr10:37418731-37418781	NHDF-neo	bronchial:	n/a
35	chr10:37418731-37418781	H1-hESC	embryonic stem cell:	embryo
36	chr10:37418731-37418781	GM12891	blood:	n/a
37	chr10:37418731-37418781	HUVEC	blood vessel:	n/a
38	chr10:37418731-37418781	AG09319	gingival:	n/a
39	chr10:37418731-37418781	ovcar-3	ovarian:	n/a
40	chr10:37418731-37418781	SKMC	muscle:	n/a
41	chr10:37418731-37418781	BE2_C	brain:	n/a
42	chr10:37418731-37418781	HepG2	liver:	n/a
43	chr10:37418731-37418781	SK-N-SH_RA	brain:	n/a
44	chr10:37418731-37418781	HRCEpiC	kidney:	n/a
45	chr10:37418731-37418781	AG04450	lung:	fetal
46	chr10:37418731-37418781	LNCaP	prostate:	n/a
47	chr10:37418731-37418781	K562	blood:	n/a
48	chr10:37418731-37418781	HRPEpiC	eye:	n/a
49	chr10:37418731-37418781	NB4	blood:	n/a
50	chr10:37418731-37418781	HRE	kidney:	n/a

No data

Variant related genes	Relation type
RNU6-811P	TF binding region
RNU6-811P	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572749077	chr10:37418216-37418217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534552081	chr10:37418258-37418259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192029380	chr10:37418348-37418349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574687951	chr10:37418349-37418350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181971307	chr10:37418448-37418449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540563237	chr10:37418483-37418484	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79055227	chr10:37418491-37418492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576094036	chr10:37418496-37418497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545119921	chr10:37418531-37418532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565261664	chr10:37418588-37418589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541910467	chr10:37418611-37418612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527868800	chr10:37418655-37418656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149964576	chr10:37418680-37418681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72246787	chr10:37418691-37418692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376225408	chr10:37418693-37418694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201093190	chr10:37418695-37418696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530336955	chr10:37418731-37418732	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549771613	chr10:37418737-37418738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569693105	chr10:37418741-37418742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187870826	chr10:37420286-37420287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539364470	chr10:37420339-37420340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552516326	chr10:37420384-37420385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532292697	chr10:37420393-37420394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140324506	chr10:37420419-37420420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535056084	chr10:37420427-37420428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554757635	chr10:37420467-37420468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs192159877	chr10:37420477-37420478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546050445	chr10:37420483-37420484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112865671	chr10:37420504-37420505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559588414	chr10:37420536-37420537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76881056	chr10:37420660-37420661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557595625	chr10:37420673-37420674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376457524	chr10:37420687-37420688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150923287	chr10:37421790-37421791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188287104	chr10:37421792-37421793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566731359	chr10:37421843-37421844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs180828179	chr10:37421915-37421916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369817643	chr10:37421932-37421933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573762089	chr10:37422784-37422785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542882469	chr10:37422809-37422810	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562766397	chr10:37422833-37422834	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369118323	chr10:37422851-37422852	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371683302	chr10:37422891-37422892	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375872763	chr10:37422916-37422917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200565471	chr10:37422917-37422918	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190023267	chr10:37422934-37422935	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145748184	chr10:37422945-37422946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138331190	chr10:37422961-37422962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373380909	chr10:37422972-37422973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376276298	chr10:37422978-37422979	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37418200-37418800	Active TSS	A549	lung
2	chr10:37422800-37423200	Enhancers	Adipose Nuclei	Adipose

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