Variant report

Variant	nsv827640
Chromosome Location	chr16:34956811-34989569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:368)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:34973700-34973888	HepG2	liver:	n/a	chr16:34973763-34973774
2	CTCF	chr16:34986294-34986489	NHEK	skin:	n/a	n/a
3	CTCF	chr16:34984911-34984941	Lung_OC	lung:	n/a	n/a
4	CTCF	chr16:34967537-34967606	LNCaP	prostate:	n/a	n/a
5	E2F4	chr16:34965184-34965378	MCF10A-Er-Src	breast:	n/a	n/a
6	EGR1	chr16:34969223-34969605	ECC-1	luminal epithelium:	n/a	chr16:34969403-34969418 chr16:34969404-34969417 chr16:34969404-34969417
7	EP300	chr16:34977430-34978213	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr16:34977611-34978091	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr16:34967650-34968545	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr16:34979053-34980036	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr16:34963234-34964079	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr16:34959968-34961010	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr16:34977633-34978059	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr16:34979857-34980124	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr16:34967692-34968344	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr16:34960158-34960484	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr16:34969394-34969667	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr16:34977677-34978095	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr16:34977575-34978105	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr16:34979854-34980217	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr16:34979842-34980295	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr16:34969325-34969658	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr16:34967730-34967982	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr16:34977610-34977993	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr16:34969375-34969689	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr16:34967730-34968375	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr16:34969373-34969727	ECC-1	luminal epithelium:	n/a	n/a
28	FOS	chr16:34979189-34979382	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr16:34979215-34979378	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr16:34979269-34979359	MCF10A-Er-Src	breast:	n/a	n/a
31	FOSL1	chr16:34978692-34979627	HCT-116	colon:	n/a	n/a
32	FOXM1	chr16:34967675-34968388	ECC-1	luminal epithelium:	n/a	n/a
33	FOXM1	chr16:34960353-34960842	ECC-1	luminal epithelium:	n/a	n/a
34	JUN	chr16:34967776-34967890	HepG2	liver:	n/a	chr16:34967834-34967847
35	JUND	chr16:34979163-34979566	HCT-116	colon:	n/a	n/a
36	JUND	chr16:34967672-34968000	HepG2	liver:	n/a	n/a
37	JUND	chr16:34979015-34979536	HCT-116	colon:	n/a	n/a
38	MAFF	chr16:34976155-34976385	HepG2	liver:	n/a	n/a
39	MAFK	chr16:34973749-34973911	HepG2	liver:	n/a	n/a
40	MAFK	chr16:34976188-34976456	HepG2	liver:	n/a	n/a
41	MAFK	chr16:34976178-34976356	HepG2	liver:	n/a	n/a
42	MAFK	chr16:34971547-34971560	HepG2	liver:	n/a	n/a
43	MAX	chr16:34969387-34969708	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr16:34960177-34960803	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr16:34977584-34978166	ECC-1	luminal epithelium:	n/a	n/a
46	NFIC	chr16:34960107-34960865	ECC-1	luminal epithelium:	n/a	n/a
47	NFIC	chr16:34967756-34968398	ECC-1	luminal epithelium:	n/a	n/a
48	NFIC	chr16:34969215-34969769	ECC-1	luminal epithelium:	n/a	n/a
49	NFIC	chr16:34979081-34979456	ECC-1	luminal epithelium:	n/a	n/a
50	NFIC	chr16:34977568-34978005	ECC-1	luminal epithelium:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34979575-34979625	GM19239	blood:	n/a
2	chr16:34983615-34983665	NH-A	brain:	n/a
3	chr16:34979575-34979625	GM19239	blood:	n/a
4	chr16:34983615-34983665	NH-A	brain:	n/a
5	chr16:34979575-34979625	NB4	blood:	n/a
6	chr16:34983615-34983665	Caco-2	colon:	n/a
7	chr16:34979575-34979625	NHBE	bronchial:	n/a
8	chr16:34983912-34983962	HCF	heart:	n/a
9	chr16:34979671-34979721	A549	lung:	n/a
10	chr16:34979671-34979721	SAEC	small airway:	n/a
11	chr16:34983384-34983434	HCF	heart:	n/a
12	chr16:34983384-34983434	HPAEpiC	pulmonary alveolar:	n/a
13	chr16:34983384-34983434	HIPEpiC	eye:	n/a
14	chr16:34979671-34979721	HCT-116	colon:	n/a
15	chr16:34983384-34983434	Hela-S3	cervix:	n/a
16	chr16:34983384-34983434	AG09319	gingival:	n/a
17	chr16:34983615-34983665	AG04450	lung:	fetal
18	chr16:34983384-34983434	ProgFib	skin:	n/a
19	chr16:34984121-34984171	PrEC	prostate:	n/a
20	chr16:34984121-34984171	H1-hESC	embryonic stem cell:	embryo
21	chr16:34983384-34983434	ECC-1	luminal epithelium:	n/a
22	chr16:34983384-34983434	H1-hESC	embryonic stem cell:	embryo
23	chr16:34979575-34979625	SK-N-SH_RA	brain:	n/a
24	chr16:34983384-34983434	NHBE	bronchial:	n/a
25	chr16:34983912-34983962	SK-N-SH_RA	brain:	n/a
26	chr16:34984121-34984171	HEK293	kidney:	embryo
27	chr16:34983912-34983962	PrEC	prostate:	n/a
28	chr16:34984121-34984171	SKMC	muscle:	n/a
29	chr16:34979671-34979721	HMEC	breast:	n/a
30	chr16:34983615-34983665	GM12892	blood:	n/a
31	chr16:34983912-34983962	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:34984121-34984171	K562	blood:	n/a
33	chr16:34983615-34983665	SK-N-SH_RA	brain:	n/a
34	chr16:34979671-34979721	ProgFib	skin:	n/a
35	chr16:34984121-34984171	T-47D	breast:	n/a
36	chr16:34983384-34983434	NT2-D1	testis:	n/a
37	chr16:34983384-34983434	HepG2	liver:	n/a
38	chr16:34979575-34979625	SAEC	small airway:	n/a
39	chr16:34979575-34979625	HCM	heart:	n/a
40	chr16:34979671-34979721	HIPEpiC	eye:	n/a
41	chr16:34979575-34979625	HCT-116	colon:	n/a
42	chr16:34979671-34979721	HAEpiC	amniotic membrane:	n/a
43	chr16:34984121-34984171	SK-N-MC	brain:	n/a
44	chr16:34983384-34983434	HCT-116	colon:	n/a
45	chr16:34979671-34979721	BJ	skin:	n/a
46	chr16:34983912-34983962	LNCaP	prostate:	n/a
47	chr16:34983615-34983665	CMK	blood:	n/a
48	chr16:34979575-34979625	BE2_C	brain:	n/a
49	chr16:34983912-34983962	HIPEpiC	eye:	n/a
50	chr16:34983384-34983434	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00273-30	chr16:34956639-34956900	NONHSAT142221

No data

Variant related genes	Relation type
RNA5SP417	TF binding region
ENSG00000261122	TF binding region
RNA5SP409	TF binding region
RNA5SP419	TF binding region
RNA5SP407	TF binding region
RNA5SP406	TF binding region
RNA5SP408	TF binding region
RNA5SP413	TF binding region
RNA5SP415	TF binding region
RNA5SP418	TF binding region
RNA5SP422	TF binding region
RNA5SP421	TF binding region
RNA5SP416	TF binding region
RNA5SP410	TF binding region
ENSG00000260522	TF binding region
RNA5SP420	TF binding region
RNA5SP423	TF binding region
RNA5SP417	CpG island
ENSG00000261122	CpG island
RNA5SP409	CpG island
RNA5SP419	CpG island
RNA5SP407	CpG island
RNA5SP406	CpG island
RNA5SP408	CpG island
RNA5SP413	CpG island
RNA5SP415	CpG island
RNA5SP418	CpG island
RNA5SP422	CpG island
RNA5SP421	CpG island
RNA5SP416	CpG island
RNA5SP410	CpG island
ENSG00000260522	CpG island
RNA5SP420	CpG island
RNA5SP423	CpG island

Extended variants
information (count: 1403 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1403 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7186948	chr16:34956823-34956824	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541357161	chr16:34956838-34956839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559711053	chr16:34956841-34956842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs577694980	chr16:34956849-34956850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561049469	chr16:34956858-34956859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs531502736	chr16:34956882-34956883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563230413	chr16:34956887-34956888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530630536	chr16:34956897-34956898	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547069855	chr16:34957202-34957203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs193047928	chr16:34957210-34957211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116647427	chr16:34957211-34957212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377044719	chr16:34957224-34957225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147385997	chr16:34957249-34957250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184494769	chr16:34957262-34957263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530838257	chr16:34957263-34957264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs189012954	chr16:34957269-34957270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567693257	chr16:34957329-34957330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371325824	chr16:34957370-34957371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534806031	chr16:34957400-34957401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375296012	chr16:34957401-34957402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553204134	chr16:34957403-34957404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571524645	chr16:34957404-34957405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181570857	chr16:34957414-34957415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565717706	chr16:34957444-34957445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557004989	chr16:34957469-34957470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575163239	chr16:34957484-34957485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530306385	chr16:34957488-34957489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554646665	chr16:34957491-34957492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572609450	chr16:34957499-34957500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139437698	chr16:34957526-34957527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548503870	chr16:34957531-34957532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559537350	chr16:34957549-34957550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533418351	chr16:34957557-34957558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375080012	chr16:34957569-34957570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545661245	chr16:34957574-34957575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185469069	chr16:34957594-34957595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77247399	chr16:34957595-34957596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549153437	chr16:34957603-34957604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567713096	chr16:34957616-34957617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369888125	chr16:34957665-34957666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117676846	chr16:34957687-34957688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs116059374	chr16:34957693-34957694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538872037	chr16:34957694-34957695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557213504	chr16:34957712-34957713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371843511	chr16:34957718-34957719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570813172	chr16:34957742-34957743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535158073	chr16:34957764-34957765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554277653	chr16:34957845-34957846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62059094	chr16:34957865-34957866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141651020	chr16:34957875-34957876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:34957200-34958400	ZNF genes & repeats	Dnd41	blood
2	chr16:34959200-34960400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:34959400-34959600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr16:34959600-34965000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:34960200-34960600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr16:34960600-34961000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr16:34960800-34961200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:34961000-34961200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr16:34961200-34963000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:34963000-34964400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:34964400-34965400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:34965000-34965800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:34965400-34967400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr16:34965800-34966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:34966800-34968000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:34967200-34969200	Enhancers	NHEK	skin
17	chr16:34968000-34970800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:34969000-34970200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:34970000-34971200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr16:34978800-34980400	Enhancers	NHEK	skin
21	chr16:34979800-34989600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:34980400-34989000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:34983000-34988400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr16:34983600-34986400	ZNF genes & repeats	Fetal Stomach	stomach
25	chr16:34984200-34986200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:34985600-34986600	Enhancers	NHEK	skin
27	chr16:34987000-34989000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:34988800-34989000	ZNF genes & repeats	Brain Germinal Matrix	brain

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