Variant report

Variant	nsv984352
Chromosome Location	chr16:74253770-74256333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:74256200-74256350	GM12864	blood:	n/a	chr16:74256317-74256326
2	MYC	chr16:74254649-74254667	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:74255104-74255194	MCF10A-Er-Src	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:74254113-74254163	U87	brain:	n/a
2	chr16:74254113-74254163	U87	brain:	n/a
3	chr16:74254113-74254163	SKMC	muscle:	n/a
4	chr16:74254113-74254163	GM12878	blood:	n/a
5	chr16:74254113-74254163	SAEC	small airway:	n/a
6	chr16:74254113-74254163	PANC-1	pancreas:	n/a
7	chr16:74254113-74254163	NHBE	bronchial:	n/a
8	chr16:74254113-74254163	NT2-D1	testis:	n/a
9	chr16:74254113-74254163	Hela-S3	cervix:	n/a
10	chr16:74254113-74254163	Jurkat	blood:	n/a
11	chr16:74254113-74254163	ovcar-3	ovarian:	n/a
12	chr16:74254113-74254163	AG10803	skin:	n/a
13	chr16:74254113-74254163	AG04449	skin:	fetal
14	chr16:74254113-74254163	HMEC	breast:	n/a
15	chr16:74254113-74254163	Hepatocyte	liver:	n/a
16	chr16:74254113-74254163	H1-hESC	embryonic stem cell:	embryo
17	chr16:74254113-74254163	NHDF-neo	bronchial:	n/a
18	chr16:74254113-74254163	AoSMC	blood vessel:	n/a
19	chr16:74254113-74254163	GM06990	blood:	n/a
20	chr16:74254113-74254163	Caco-2	colon:	n/a
21	chr16:74254113-74254163	ProgFib	skin:	n/a
22	chr16:74254113-74254163	HUVEC	blood vessel:	n/a
23	chr16:74254113-74254163	HIPEpiC	eye:	n/a
24	chr16:74254113-74254163	HRCEpiC	kidney:	n/a
25	chr16:74254113-74254163	GM12892	blood:	n/a
26	chr16:74254113-74254163	PrEC	prostate:	n/a
27	chr16:74254113-74254163	SK-N-SH	brain:	n/a
28	chr16:74254113-74254163	IMR90	lung:	fetal
29	chr16:74254113-74254163	NB4	blood:	n/a
30	chr16:74254113-74254163	BJ	skin:	n/a
31	chr16:74254113-74254163	HEK293	kidney:	embryo
32	chr16:74254113-74254163	AG09309	skin:	n/a
33	chr16:74254113-74254163	SK-N-SH_RA	brain:	n/a
34	chr16:74254113-74254163	HAEpiC	amniotic membrane:	n/a
35	chr16:74254113-74254163	ECC-1	luminal epithelium:	n/a
36	chr16:74254113-74254163	HCT-116	colon:	n/a
37	chr16:74254113-74254163	HepG2	liver:	n/a
38	chr16:74254113-74254163	K562	blood:	n/a
39	chr16:74254113-74254163	GM19239	blood:	n/a
40	chr16:74254113-74254163	HCPEpiC	choroid plexus:	n/a
41	chr16:74254113-74254163	MCF10A-Er-Src	breast:	n/a
42	chr16:74254113-74254163	HNPCEpiC	eye:	n/a
43	chr16:74254113-74254163	HEEpiC	esophagus:	n/a
44	chr16:74254113-74254163	GM12891	blood:	n/a
45	chr16:74254113-74254163	AG04450	lung:	fetal
46	chr16:74254113-74254163	PFSK-1	brain:	n/a
47	chr16:74254113-74254163	NH-A	brain:	n/a
48	chr16:74254113-74254163	T-47D	breast:	n/a
49	chr16:74254113-74254163	MCF-7	breast:	n/a
50	chr16:74254113-74254163	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74252229..74253733-chr16:74255287..74256912,2	K562	blood:
2	chr16:74255170..74257506-chr16:74284177..74286100,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260471	TF binding region
ENSG00000261404	TF binding region
ENSG00000260471	CpG island
ENSG00000261404	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533775292	chr16:74253785-74253786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547113062	chr16:74253827-74253828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371532137	chr16:74253910-74253911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534323793	chr16:74253953-74253954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112583183	chr16:74253968-74253969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567600357	chr16:74253983-74253984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536654180	chr16:74253985-74253986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs918735	chr16:74253996-74253997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555848128	chr16:74254033-74254034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143111963	chr16:74254053-74254054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535312219	chr16:74254113-74254114	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs192485173	chr16:74254131-74254132	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs575511781	chr16:74254152-74254153	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs544075838	chr16:74254211-74254212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112967555	chr16:74254225-74254226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4002561	chr16:74254226-74254227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541392707	chr16:74254235-74254236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182101855	chr16:74254302-74254303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577983305	chr16:74254349-74254350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186294553	chr16:74254350-74254351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190679204	chr16:74254405-74254406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539982432	chr16:74254409-74254410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549641792	chr16:74254425-74254426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560074544	chr16:74254451-74254452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528812884	chr16:74254484-74254485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117673264	chr16:74254492-74254493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578118218	chr16:74254522-74254523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552065377	chr16:74254556-74254557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570310152	chr16:74254566-74254567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532942322	chr16:74254597-74254598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549459024	chr16:74254641-74254642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569452718	chr16:74254652-74254653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182918774	chr16:74254673-74254674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59333202	chr16:74254729-74254730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565887971	chr16:74254737-74254738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534581869	chr16:74254777-74254778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558043085	chr16:74254785-74254786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187253365	chr16:74254809-74254810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543884078	chr16:74254815-74254816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528939426	chr16:74254840-74254841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141415734	chr16:74254841-74254842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12932812	chr16:74254859-74254860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16964162	chr16:74254861-74254862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559654040	chr16:74254870-74254871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191095699	chr16:74254948-74254949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545327862	chr16:74254970-74254971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183010532	chr16:74254973-74254974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563355875	chr16:74254974-74254975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532756831	chr16:74255032-74255033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375963720	chr16:74255046-74255047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	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	chr16:74253200-74254000	Enhancers	Fetal Lung	lung
2	chr16:74254000-74257400	Weak transcription	Fetal Lung	lung

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