Variant report

Variant	nsv960358
Chromosome Location	chr16:76410702-76414684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:76411961-76412268	K562	blood:	n/a	chr16:76412123-76412134
2	CEBPB	chr16:76411985-76412274	H1-hESC	embryonic stem cell:	n/a	chr16:76412123-76412134
3	CEBPB	chr16:76411952-76412267	A549	lung:	n/a	chr16:76412123-76412134
4	CEBPB	chr16:76411375-76411554	HepG2	liver:	n/a	chr16:76411382-76411393 chr16:76411382-76411395
5	CEBPB	chr16:76411943-76412290	HepG2	liver:	n/a	chr16:76412123-76412134
6	CEBPB	chr16:76411948-76412307	IMR90	lung:	n/a	chr16:76412123-76412134
7	GATA3	chr16:76413671-76413839	SH-SY5Y	brain:	n/a	chr16:76413684-76413696 chr16:76413683-76413693 chr16:76413686-76413693 chr16:76413686-76413695 chr16:76413811-76413824 chr16:76413685-76413695
8	MAFF	chr16:76414611-76414684	HepG2	liver:	n/a	n/a
9	MAFK	chr16:76414630-76414814	HepG2	liver:	n/a	chr16:76414670-76414687 chr16:76414674-76414689 chr16:76414674-76414690 chr16:76414678-76414689
10	MAFK	chr16:76414584-76414747	HepG2	liver:	n/a	chr16:76414670-76414687 chr16:76414674-76414689 chr16:76414674-76414690 chr16:76414678-76414689
11	ZNF143	chr16:76410917-76411121	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3005128..3007874-chr16:76409893..76412241,2	MCF-7	breast:
2	chr16:76410172..76411820-chr16:76413845..76416740,2	K562	blood:

Variant related genes	Relation type
ENSG00000264645	TF binding region
ENSG00000264645	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150001290	chr16:76410706-76410707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144298955	chr16:76410708-76410709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187285056	chr16:76410733-76410734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531600843	chr16:76410744-76410745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71952100	chr16:76410805-76410806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71134755	chr16:76410838-76410839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs5817987	chr16:76410842-76410843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548094262	chr16:76410858-76410859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193184205	chr16:76410869-76410870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79121515	chr16:76410870-76410871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148712645	chr16:76410904-76410905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78538980	chr16:76410907-76410908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143631288	chr16:76410922-76410923	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576677763	chr16:76410923-76410924	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577395740	chr16:76410940-76410941	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542467654	chr16:76410942-76410943	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73615707	chr16:76410979-76410980	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572722140	chr16:76410997-76410998	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146877127	chr16:76411005-76411006	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59687538	chr16:76411031-76411032	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564602192	chr16:76411037-76411038	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533439819	chr16:76411094-76411095	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140691686	chr16:76411120-76411121	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563661363	chr16:76411155-76411156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370850749	chr16:76411160-76411161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12918149	chr16:76411228-76411229	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs371391599	chr16:76411234-76411235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185504718	chr16:76411271-76411272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568005227	chr16:76411275-76411276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144517900	chr16:76411279-76411280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151080510	chr16:76411282-76411283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs16944319	chr16:76411286-76411287	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190802796	chr16:76411320-76411321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17766957	chr16:76411325-76411326	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs150317795	chr16:76411326-76411327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376611119	chr16:76411383-76411384	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79739700	chr16:76411411-76411412	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373566028	chr16:76411444-76411445	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs16944320	chr16:76411451-76411452	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17766975	chr16:76411476-76411477	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535255547	chr16:76411505-76411506	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558351582	chr16:76411538-76411539	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578042176	chr16:76411543-76411544	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543852776	chr16:76411562-76411563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563627009	chr16:76411566-76411567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192312411	chr16:76411577-76411578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542640387	chr16:76411578-76411579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9931521	chr16:76411579-76411580	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11864175	chr16:76411604-76411605	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112571222	chr16:76411642-76411643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21806811	CNVD
Ovarian clear cell carcinoma	21343371	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
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76395400-76421800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76410000-76422000	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76410000-76427400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:76414000-76415600	Enhancers	Fetal Brain Male	brain

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