Variant report

Variant	nsv1063460
Chromosome Location	chr16:81139073-81157385
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	BCL3	chr16:81143404-81143722	GM12878	blood:	n/a	n/a
4	BHLHE40	chr16:81154295-81154311	HepG2	liver:	n/a	n/a
5	CEBPB	chr16:81156789-81156940	IMR90	lung:	n/a	chr16:81156850-81156863 chr16:81156851-81156862
6	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
7	CEBPB	chr16:81154307-81154509	K562	blood:	n/a	chr16:81154459-81154472
8	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
9	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
10	CEBPB	chr16:81139677-81139998	MCF-7	breast:	n/a	n/a
11	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
12	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
13	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
14	CEBPB	chr16:81157290-81157471	K562	blood:	n/a	n/a
15	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
16	CEBPD	chr16:81156692-81157074	HepG2	liver:	n/a	n/a
17	CHD2	chr16:81156692-81156997	HepG2	liver:	n/a	n/a
18	CREB1	chr16:81156612-81157226	HepG2	liver:	n/a	n/a
19	CREB1	chr16:81156593-81157509	HepG2	liver:	n/a	n/a
20	CTCF	chr16:81154200-81154350	K562	blood:	n/a	chr16:81154316-81154332
21	CTCF	chr16:81154309-81154368	K562	blood:	n/a	chr16:81154316-81154332
22	CTCF	chr16:81154265-81154413	K562	blood:	n/a	chr16:81154316-81154332
23	CTCF	chr16:81151753-81151826	LNCaP	prostate:	n/a	n/a
24	E2F6	chr16:81154350-81154501	K562	blood:	n/a	n/a
25	E2F6	chr16:81141244-81141368	K562	blood:	n/a	n/a
26	ELF1	chr16:81156825-81157053	HepG2	liver:	n/a	n/a
27	ELF1	chr16:81157283-81157618	K562	blood:	n/a	chr16:81157466-81157479
28	EP300	chr16:81157204-81157387	K562	blood:	n/a	n/a
29	EP300	chr16:81156656-81157078	HepG2	liver:	n/a	chr16:81156848-81156862
30	EP300	chr16:81156535-81157166	HepG2	liver:	n/a	chr16:81156848-81156862
31	FOS	chr16:81152266-81152349	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr16:81145165-81145333	MCF10A-Er-Src	breast:	n/a	chr16:81145296-81145304 chr16:81145297-81145304
33	FOS	chr16:81152294-81152355	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr16:81156879-81156969	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr16:81142952-81143275	HepG2	liver:	n/a	n/a
36	FOXA1	chr16:81139590-81139979	T-47D	breast:	n/a	n/a
37	FOXA2	chr16:81156668-81157071	HepG2	liver:	n/a	n/a
38	FOXA2	chr16:81142943-81143127	HepG2	liver:	n/a	n/a
39	GATA3	chr16:81139673-81139965	T-47D	breast:	n/a	n/a
40	GATA3	chr16:81139637-81140050	T-47D	breast:	n/a	n/a
41	HDAC2	chr16:81156639-81157181	HepG2	liver:	n/a	n/a
42	HNF4A	chr16:81156689-81157092	HepG2	liver:	n/a	chr16:81156976-81156984
43	HNF4A	chr16:81156611-81157260	HepG2	liver:	n/a	chr16:81156976-81156984
44	HNF4A	chr16:81156608-81157022	HepG2	liver:	n/a	chr16:81156976-81156984
45	HNF4G	chr16:81156608-81157159	HepG2	liver:	n/a	chr16:81156976-81156984
46	HNF4G	chr16:81156593-81157212	HepG2	liver:	n/a	chr16:81156976-81156984
47	JUN	chr16:81156741-81156986	HepG2	liver:	n/a	chr16:81156882-81156895
48	JUND	chr16:81152204-81152405	HepG2	liver:	n/a	chr16:81152304-81152315
49	JUND	chr16:81156693-81157047	HepG2	liver:	n/a	n/a
50	JUND	chr16:81140801-81140963	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81139217..81142095-chr16:81142911..81145394,3	K562	blood:
2	chr16:81129115..81131910-chr16:81152675..81155542,2	K562	blood:
3	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
4	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
5	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
6	chr16:81068395..81070706-chr16:81144379..81146782,2	K562	blood:
7	chr16:81144581..81147078-chr16:81149239..81150751,2	K562	blood:
8	chr16:81144581..81147078-chr16:81149239..81150751,2	K562	blood:
9	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:
10	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
11	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:
12	chr16:81113091..81115144-chr16:81137957..81140174,2	K562	blood:
13	chr16:81131183..81132698-chr16:81137237..81140172,2	MCF-7	breast:
14	chr16:81133047..81135189-chr16:81140404..81142805,2	MCF-7	breast:
15	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCSH-2	chr16:81145264-81145354	l_1369_chr16:81136436-81166565_testes

Variant related genes	Relation type
RNU6-1191P	TF binding region
PKD1L2	TF binding region
ENSG00000252608	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000166454	chromatin interactions

Extended variants
information (count: 1210 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1210 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560910603	chr16:81139079-81139080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546265862	chr16:81139103-81139104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72825271	chr16:81139147-81139148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549428018	chr16:81139164-81139165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560886290	chr16:81139182-81139183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71143673	chr16:81139203-81139204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115314850	chr16:81139206-81139207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571115430	chr16:81139225-81139226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12930794	chr16:81139243-81139244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186876330	chr16:81139258-81139259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372185016	chr16:81139276-81139277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548968634	chr16:81139280-81139281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190375964	chr16:81139289-81139290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566498510	chr16:81139308-81139309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531338968	chr16:81139333-81139334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565818591	chr16:81139359-81139360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368307041	chr16:81139360-81139361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534223983	chr16:81139369-81139370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535683875	chr16:81139388-81139389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555496793	chr16:81139398-81139399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376704014	chr16:81139406-81139407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139672431	chr16:81139407-81139408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370042688	chr16:81139430-81139431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149773236	chr16:81139434-81139435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545603347	chr16:81139437-81139438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554476956	chr16:81139474-81139475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62051507	chr16:81139489-81139490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543274561	chr16:81139490-81139491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548722874	chr16:81139555-81139556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537573925	chr16:81139560-81139561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560733946	chr16:81139592-81139593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575587023	chr16:81139606-81139607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182724243	chr16:81139615-81139616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564626884	chr16:81139617-81139618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532206962	chr16:81139626-81139627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2316730	chr16:81139640-81139641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs371468425	chr16:81139679-81139680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559469080	chr16:81139687-81139688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529960960	chr16:81139702-81139703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73597259	chr16:81139724-81139725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567665920	chr16:81139759-81139760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577229540	chr16:81139778-81139779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538238349	chr16:81139779-81139780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550334121	chr16:81139794-81139795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571749102	chr16:81139799-81139800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112490710	chr16:81139815-81139816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531846445	chr16:81139818-81139819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113979457	chr16:81139860-81139861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546134269	chr16:81139869-81139870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187056824	chr16:81139871-81139872	Weak transcription Enhancers	Chromatin interactive region	1 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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
3	chr16:81131000-81140400	Weak transcription	Adipose Nuclei	Adipose
4	chr16:81137400-81140200	Weak transcription	HepG2	liver
5	chr16:81139200-81142800	Enhancers	Placenta	Placenta
6	chr16:81140200-81141000	Enhancers	HepG2	liver
7	chr16:81140400-81140600	Enhancers	Brain Substantia Nigra	brain
8	chr16:81140400-81140800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:81140400-81141200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:81140400-81141200	Enhancers	Brain Anterior Caudate	brain
11	chr16:81140400-81141400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:81140400-81141400	Enhancers	Brain Cingulate Gyrus	brain
13	chr16:81140400-81141400	Enhancers	Brain Hippocampus Middle	brain
14	chr16:81140400-81141600	Strong transcription	Adipose Nuclei	Adipose
15	chr16:81140600-81141200	Enhancers	Brain Angular Gyrus	brain
16	chr16:81140600-81141200	Enhancers	A549	lung
17	chr16:81140800-81141200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr16:81140800-81141400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81141000-81141400	Flanking Active TSS	HepG2	liver
20	chr16:81141200-81141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:81141200-81141400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81141200-81141400	Enhancers	Brain Substantia Nigra	brain
23	chr16:81141200-81141400	Bivalent Enhancer	K562	blood
24	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
25	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
26	chr16:81141400-81143200	Enhancers	HepG2	liver
27	chr16:81141400-81150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81141400-81153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:81141600-81143200	Weak transcription	Spleen	Spleen
32	chr16:81141600-81147400	Weak transcription	Adipose Nuclei	Adipose
33	chr16:81142800-81143000	Bivalent Enhancer	Placenta	Placenta
34	chr16:81143200-81143400	Active TSS	Spleen	Spleen
35	chr16:81143400-81144000	Enhancers	Spleen	Spleen
36	chr16:81145200-81145600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:81147400-81147800	Enhancers	Adipose Nuclei	Adipose
38	chr16:81147800-81156800	Weak transcription	Adipose Nuclei	Adipose
39	chr16:81149000-81149400	Enhancers	Fetal Heart	heart
40	chr16:81150800-81151200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:81150800-81151400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:81151000-81151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:81151200-81151400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr16:81151400-81173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:81153800-81154000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:81153800-81154000	Enhancers	Right Ventricle	heart
47	chr16:81153800-81154000	Enhancers	HepG2	liver
48	chr16:81153800-81154200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:81153800-81154200	Enhancers	GM12878-XiMat	blood
50	chr16:81154000-81154400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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