Variant report

Variant	nsv524757
Chromosome Location	chr10:38445002-38451641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:38447828-38448542	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr10:38447460-38447557	GM20000	blood:	n/a	n/a
3	CTCF	chr10:38447283-38447346	GM13977	blood:	n/a	n/a
4	EP300	chr10:38447987-38448340	MCF-7	breast:	n/a	n/a
5	EP300	chr10:38447879-38448400	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr10:38447997-38448370	T-47D	breast:	n/a	n/a
7	GATA3	chr10:38447630-38448502	MCF-7	breast:	n/a	n/a
8	JUN	chr10:38447956-38448358	Hela-S3	cervix:	n/a	n/a
9	JUND	chr10:38447911-38448337	Hela-S3	cervix:	n/a	n/a
10	KAP1	chr10:38448484-38448677	K562	blood:	n/a	n/a
11	MAX	chr10:38447939-38448399	Hela-S3	cervix:	n/a	n/a
12	MAX	chr10:38446156-38446417	K562	blood:	n/a	chr10:38446287-38446296
13	POLR2A	chr10:38450855-38450921	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr10:38446878-38447291	K562	blood:	n/a	n/a
15	POLR2A	chr10:38447518-38447883	K562	blood:	n/a	n/a
16	POLR2A	chr10:38446166-38446212	MCF-7	breast:	n/a	n/a
17	POLR2A	chr10:38448728-38448922	K562	blood:	n/a	n/a
18	POLR2A	chr10:38448140-38448333	K562	blood:	n/a	n/a
19	POLR2A	chr10:38446054-38446437	U87	brain:	n/a	n/a
20	RAD21	chr10:38447931-38448393	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr10:38447722-38448475	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr10:38447932-38448432	MCF-7	breast:	n/a	n/a
23	STAT3	chr10:38447940-38448458	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr10:38448018-38448261	MCF-7	breast:	n/a	n/a
25	TCF7L2	chr10:38446372-38446816	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr10:38450822-38451011	Hela-S3	cervix:	n/a	n/a
27	TEAD4	chr10:38447951-38448306	MCF-7	breast:	n/a	n/a
28	TEAD4	chr10:38447943-38448347	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38445916-38445966	AG04450	lung:	fetal
2	chr10:38445916-38445966	GM19239	blood:	n/a
3	chr10:38445710-38445760	HAEpiC	amniotic membrane:	n/a
4	chr10:38445710-38445760	SKMC	muscle:	n/a
5	chr10:38445792-38445842	SK-N-SH	brain:	n/a
6	chr10:38445792-38445842	IMR90	lung:	fetal
7	chr10:38445916-38445966	HEEpiC	esophagus:	n/a
8	chr10:38445916-38445966	LNCaP	prostate:	n/a
9	chr10:38445710-38445760	HMEC	breast:	n/a
10	chr10:38445792-38445842	HEEpiC	esophagus:	n/a
11	chr10:38445792-38445842	PrEC	prostate:	n/a
12	chr10:38445916-38445966	AG04449	skin:	fetal
13	chr10:38445916-38445966	U87	brain:	n/a
14	chr10:38445916-38445966	HEK293	kidney:	embryo
15	chr10:38445916-38445966	HCPEpiC	choroid plexus:	n/a
16	chr10:38445710-38445760	BJ	skin:	n/a
17	chr10:38445916-38445966	SKMC	muscle:	n/a
18	chr10:38445792-38445842	H1-hESC	embryonic stem cell:	embryo
19	chr10:38445792-38445842	Jurkat	blood:	n/a
20	chr10:38445916-38445966	SK-N-SH_RA	brain:	n/a
21	chr10:38445792-38445842	NT2-D1	testis:	n/a
22	chr10:38445792-38445842	AG09309	skin:	n/a
23	chr10:38445792-38445842	AG04449	skin:	fetal
24	chr10:38445792-38445842	HUVEC	blood vessel:	n/a
25	chr10:38445710-38445760	HEK293	kidney:	embryo
26	chr10:38445916-38445966	BE2_C	brain:	n/a
27	chr10:38445710-38445760	K562	blood:	n/a
28	chr10:38445916-38445966	Hepatocyte	liver:	n/a
29	chr10:38445792-38445842	T-47D	breast:	n/a
30	chr10:38445916-38445966	HAEpiC	amniotic membrane:	n/a
31	chr10:38445916-38445966	SAEC	small airway:	n/a
32	chr10:38445792-38445842	HRPEpiC	eye:	n/a
33	chr10:38445916-38445966	HL-60	blood:	n/a
34	chr10:38445792-38445842	SK-N-SH_RA	brain:	n/a
35	chr10:38445916-38445966	HepG2	liver:	n/a
36	chr10:38445792-38445842	ECC-1	luminal epithelium:	n/a
37	chr10:38445710-38445760	AG09309	skin:	n/a
38	chr10:38445792-38445842	AoSMC	blood vessel:	n/a
39	chr10:38445710-38445760	T-47D	breast:	n/a
40	chr10:38445710-38445760	SK-N-SH	brain:	n/a
41	chr10:38445916-38445966	HRE	kidney:	n/a
42	chr10:38445792-38445842	CMK	blood:	n/a
43	chr10:38445710-38445760	GM12878	blood:	n/a
44	chr10:38445792-38445842	NHDF-neo	bronchial:	n/a
45	chr10:38445710-38445760	GM19239	blood:	n/a
46	chr10:38445710-38445760	HEEpiC	esophagus:	n/a
47	chr10:38445710-38445760	HUVEC	blood vessel:	n/a
48	chr10:38445916-38445966	AoSMC	blood vessel:	n/a
49	chr10:38445792-38445842	AG10803	skin:	n/a
50	chr10:38445916-38445966	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ENSG00000241125	TF binding region
ENSG00000225965	TF binding region
ENSG00000241125	CpG island
ENSG00000225965	CpG island

Extended variants
information (count: 237 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545745936	chr10:38445642-38445643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2474603	chr10:38445682-38445683	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12772607	chr10:38445716-38445717	ZNF genes & repeats	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542533316	chr10:38445735-38445736	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs564207456	chr10:38445737-38445738	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs12771655	chr10:38445781-38445782	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550397953	chr10:38445784-38445785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564250774	chr10:38445792-38445793	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs191782697	chr10:38445848-38445849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546576887	chr10:38445862-38445863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566488464	chr10:38445863-38445864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145414806	chr10:38445868-38445869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549286680	chr10:38445880-38445881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs568942733	chr10:38445887-38445888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs117230395	chr10:38445899-38445900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368125161	chr10:38445917-38445918	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs576886824	chr10:38445920-38445921	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs12258247	chr10:38445921-38445922	ZNF genes & repeats	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552922844	chr10:38445922-38445923	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs572932467	chr10:38445926-38445927	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs542145456	chr10:38445929-38445930	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs542964301	chr10:38445957-38445958	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs562448402	chr10:38445958-38445959	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs575743570	chr10:38445965-38445966	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs544742294	chr10:38445972-38445973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564676983	chr10:38445973-38445974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141408596	chr10:38446069-38446070	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546737970	chr10:38446086-38446087	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11011464	chr10:38446091-38446092	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560168723	chr10:38446100-38446101	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528916339	chr10:38446105-38446106	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548996629	chr10:38446119-38446120	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs183053849	chr10:38446124-38446125	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537759030	chr10:38446144-38446145	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551517876	chr10:38446167-38446168	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571128931	chr10:38446185-38446186	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539523900	chr10:38446203-38446204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs72793782	chr10:38446215-38446216	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7095460	chr10:38446285-38446286	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535886376	chr10:38446291-38446292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187388028	chr10:38446350-38446351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs575855782	chr10:38446372-38446373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs117290796	chr10:38446377-38446378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544596582	chr10:38446438-38446439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558356105	chr10:38446445-38446446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs578232179	chr10:38446500-38446501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs540315627	chr10:38446525-38446526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs35642112	chr10:38446587-38446588	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528983537	chr10:38446598-38446599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs145125951	chr10:38446625-38446626	Inactive region	TF binding region	1 gene(s)	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38445600-38446200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:38448800-38449400	ZNF genes & repeats	Brain Substantia Nigra	brain
3	chr10:38448800-38449400	ZNF genes & repeats	Dnd41	blood
4	chr10:38449000-38449200	ZNF genes & repeats	Brain Anterior Caudate	brain
5	chr10:38449000-38452200	Weak transcription	Ovary	ovary
6	chr10:38449200-38452800	Weak transcription	Brain Anterior Caudate	brain
7	chr10:38449400-38456800	Weak transcription	Brain Substantia Nigra	brain

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