Variant report

Variant	nsv520035
Chromosome Location	chr16:81145675-81157521
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	ARID3A	chr16:81156626-81157063	HepG2	liver:	n/a	n/a
2	ATF1	chr16:81156756-81157044	K562	blood:	n/a	n/a
3	BHLHE40	chr16:81154295-81154311	HepG2	liver:	n/a	n/a
4	CEBPB	chr16:81156720-81157074	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
5	CEBPB	chr16:81156769-81157052	K562	blood:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
6	CEBPB	chr16:81156789-81156940	IMR90	lung:	n/a	chr16:81156850-81156863 chr16:81156851-81156862
7	CEBPB	chr16:81156771-81157019	Hela-S3	cervix:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
8	CEBPB	chr16:81156627-81157144	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
9	CEBPB	chr16:81156672-81157057	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
10	CEBPB	chr16:81154307-81154509	K562	blood:	n/a	chr16:81154459-81154472
11	CEBPB	chr16:81156622-81157149	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
12	CEBPB	chr16:81156711-81157026	A549	lung:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
13	CEBPB	chr16:81157290-81157471	K562	blood:	n/a	n/a
14	CEBPD	chr16:81156692-81157074	HepG2	liver:	n/a	n/a
15	CHD2	chr16:81156692-81156997	HepG2	liver:	n/a	n/a
16	CREB1	chr16:81156612-81157226	HepG2	liver:	n/a	n/a
17	CREB1	chr16:81156593-81157509	HepG2	liver:	n/a	n/a
18	CTCF	chr16:81154265-81154413	K562	blood:	n/a	chr16:81154316-81154332
19	CTCF	chr16:81154200-81154350	K562	blood:	n/a	chr16:81154316-81154332
20	CTCF	chr16:81154309-81154368	K562	blood:	n/a	chr16:81154316-81154332
21	CTCF	chr16:81151753-81151826	LNCaP	prostate:	n/a	n/a
22	E2F6	chr16:81154350-81154501	K562	blood:	n/a	n/a
23	ELF1	chr16:81156825-81157053	HepG2	liver:	n/a	n/a
24	ELF1	chr16:81157283-81157618	K562	blood:	n/a	chr16:81157466-81157479
25	EP300	chr16:81156535-81157166	HepG2	liver:	n/a	chr16:81156848-81156862
26	EP300	chr16:81156656-81157078	HepG2	liver:	n/a	chr16:81156848-81156862
27	EP300	chr16:81157204-81157387	K562	blood:	n/a	n/a
28	FOS	chr16:81156879-81156969	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr16:81152294-81152355	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr16:81152266-81152349	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA2	chr16:81156668-81157071	HepG2	liver:	n/a	n/a
32	HDAC2	chr16:81156639-81157181	HepG2	liver:	n/a	n/a
33	HNF4A	chr16:81156611-81157260	HepG2	liver:	n/a	chr16:81156976-81156984
34	HNF4A	chr16:81156689-81157092	HepG2	liver:	n/a	chr16:81156976-81156984
35	HNF4A	chr16:81156608-81157022	HepG2	liver:	n/a	chr16:81156976-81156984
36	HNF4G	chr16:81156593-81157212	HepG2	liver:	n/a	chr16:81156976-81156984
37	HNF4G	chr16:81156608-81157159	HepG2	liver:	n/a	chr16:81156976-81156984
38	JUN	chr16:81156741-81156986	HepG2	liver:	n/a	chr16:81156882-81156895
39	JUND	chr16:81156693-81157047	HepG2	liver:	n/a	n/a
40	JUND	chr16:81152204-81152405	HepG2	liver:	n/a	chr16:81152304-81152315
41	MAFF	chr16:81156903-81157079	HepG2	liver:	n/a	n/a
42	MAFF	chr16:81157273-81157359	K562	blood:	n/a	n/a
43	MAFF	chr16:81156437-81156632	HepG2	liver:	n/a	n/a
44	MAFK	chr16:81157172-81157372	K562	blood:	n/a	n/a
45	MAFK	chr16:81153792-81153960	HepG2	liver:	n/a	chr16:81153829-81153840
46	MAFK	chr16:81156510-81156672	HepG2	liver:	n/a	chr16:81156541-81156552 chr16:81156542-81156553 chr16:81156542-81156553 chr16:81156540-81156554
47	MAFK	chr16:81153843-81153941	HepG2	liver:	n/a	n/a
48	MAFK	chr16:81156453-81156998	HepG2	liver:	n/a	chr16:81156541-81156552 chr16:81156542-81156553 chr16:81156542-81156553 chr16:81156540-81156554
49	MAFK	chr16:81156884-81157030	HepG2	liver:	n/a	n/a
50	MAX	chr16:81155218-81155627	K562	blood:	n/a	chr16:81155481-81155492 chr16:81155481-81155491 chr16:81155482-81155491 chr16:81155481-81155492 chr16:81155481-81155491 chr16:81155481-81155492 chr16:81155297-81155306 chr16:81155480-81155493

No.	Distal block	Cell Line	Cell type
1	chr16:81068395..81070706-chr16:81144379..81146782,2	K562	blood:
2	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:
3	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
4	chr16:81144581..81147078-chr16:81149239..81150751,2	K562	blood:
5	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
6	chr16:81129115..81131910-chr16:81152675..81155542,2	K562	blood:
7	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:
8	chr16:81144581..81147078-chr16:81149239..81150751,2	K562	blood:
9	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
10	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000260213	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000166454	chromatin interactions

Extended variants
information (count: 818 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8059153	chr16:81145675-81145676	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140721641	chr16:81145720-81145721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs8059318	chr16:81145737-81145738	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376394708	chr16:81145741-81145742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11647962	chr16:81145755-81145756	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372080175	chr16:81145761-81145762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546516540	chr16:81145762-81145763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200846553	chr16:81145769-81145770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564602999	chr16:81145771-81145772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201664020	chr16:81145783-81145784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546635926	chr16:81145789-81145790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199863355	chr16:81145790-81145791	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377738051	chr16:81145791-81145792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs8054182	chr16:81145807-81145808	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377307987	chr16:81145810-81145811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569076742	chr16:81145824-81145825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs180755212	chr16:81145831-81145832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201604876	chr16:81145835-81145836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375827870	chr16:81145837-81145838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370173094	chr16:81145900-81145901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373654606	chr16:81145940-81145941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368747287	chr16:81145941-81145942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200079047	chr16:81145942-81145943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566673293	chr16:81145943-81145944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533801080	chr16:81145944-81145945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140744469	chr16:81145948-81145949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574443832	chr16:81145953-81145954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541967485	chr16:81145972-81145973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145784865	chr16:81145976-81145977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368469410	chr16:81146004-81146005	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371869591	chr16:81146009-81146010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138441742	chr16:81146048-81146049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142835099	chr16:81146056-81146057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143301723	chr16:81146077-81146078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528802376	chr16:81146081-81146082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540879904	chr16:81146086-81146087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs79679205	chr16:81146101-81146102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76943989	chr16:81146139-81146140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs8054893	chr16:81146155-81146156	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374497677	chr16:81146182-81146183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371462909	chr16:81146183-81146184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199784265	chr16:81146184-81146185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145569564	chr16:81146185-81146186	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs66536532	chr16:81146187-81146188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570323692	chr16:81146188-81146189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs59722247	chr16:81146189-81146190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558484764	chr16:81146190-81146191	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117593850	chr16:81146191-81146192	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551304594	chr16:81146194-81146195	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377339390	chr16:81146209-81146210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81141400-81150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81141400-81153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:81141600-81147400	Weak transcription	Adipose Nuclei	Adipose
9	chr16:81147400-81147800	Enhancers	Adipose Nuclei	Adipose
10	chr16:81147800-81156800	Weak transcription	Adipose Nuclei	Adipose
11	chr16:81149000-81149400	Enhancers	Fetal Heart	heart
12	chr16:81150800-81151200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:81150800-81151400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:81151000-81151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:81151200-81151400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:81153800-81154000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:81153800-81154000	Enhancers	Right Ventricle	heart
19	chr16:81153800-81154000	Enhancers	HepG2	liver
20	chr16:81153800-81154200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:81153800-81154200	Enhancers	GM12878-XiMat	blood
22	chr16:81154000-81154400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:81154000-81156600	Weak transcription	HepG2	liver
24	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
25	chr16:81154200-81155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:81154400-81169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:81155000-81156000	Enhancers	Placenta	Placenta
28	chr16:81155000-81161000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:81155200-81155600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81155400-81155600	Bivalent Enhancer	K562	blood
31	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
32	chr16:81155600-81160200	Weak transcription	Ovary	ovary
33	chr16:81155600-81160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:81156000-81156400	Weak transcription	Placenta	Placenta
35	chr16:81156400-81157400	Enhancers	Fetal Intestine Small	intestine
36	chr16:81156400-81157600	Enhancers	Placenta	Placenta
37	chr16:81156600-81156800	Enhancers	HepG2	liver
38	chr16:81156600-81157600	Enhancers	Liver	Liver
39	chr16:81156800-81157000	Flanking Active TSS	HepG2	liver
40	chr16:81156800-81157600	Strong transcription	Adipose Nuclei	Adipose
41	chr16:81156800-81157600	Bivalent Enhancer	K562	blood
42	chr16:81157000-81157200	Enhancers	HepG2	liver
43	chr16:81157200-81157400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:81157200-81157400	Flanking Active TSS	HepG2	liver
45	chr16:81157200-81157600	Enhancers	Fetal Intestine Large	intestine
46	chr16:81157400-81157800	Enhancers	HepG2	liver

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