Variant report

Variant	nsv1873
Chromosome Location	chr16:73974376-74001280
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	chr16:73990541-73990817	HepG2	liver:	n/a	n/a
2	BRCA1	chr16:73991108-73991112	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr16:73983360-73983937	HCT-116	colon:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
4	CEBPB	chr16:73983484-73983963	MCF-7	breast:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
5	CEBPB	chr16:73983519-73983925	Hela-S3	cervix:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
6	CEBPB	chr16:73975389-73975527	IMR90	lung:	n/a	n/a
7	CEBPB	chr16:73983442-73984011	HCT-116	colon:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
8	CEBPB	chr16:73983478-73983923	A549	lung:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
9	CEBPB	chr16:73975291-73975555	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:73983455-73983881	MCF-7	breast:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
11	CEBPB	chr16:73983545-73983884	HepG2	liver:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
12	CEBPB	chr16:73983600-73983904	A549	lung:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
13	CEBPB	chr16:73984717-73984747	HepG2	liver:	n/a	chr16:73984721-73984732
14	CEBPB	chr16:73983544-73983913	IMR90	lung:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
15	CEBPB	chr16:73983555-73983890	A549	lung:	n/a	chr16:73983715-73983728 chr16:73983716-73983727 chr16:73983715-73983726
16	CTCF	chr16:73990640-73990790	GM12874	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
17	CTCF	chr16:74000920-74001070	AG09309	skin:	n/a	n/a
18	CTCF	chr16:73990580-73990730	HEK293	kidney:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
19	CTCF	chr16:73990580-73990730	GM12873	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
20	CTCF	chr16:73990620-73990770	HPF	lung:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
21	CTCF	chr16:73990600-73990750	BJ	skin:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
22	CTCF	chr16:73990586-73990810	ProgFib	skin:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
23	CTCF	chr16:73990600-73990750	SAEC	small airway:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
24	CTCF	chr16:73990640-73990790	Hela-S3	cervix:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
25	CTCF	chr16:73990600-73990750	GM12874	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
26	CTCF	chr16:73990620-73990770	GM12878	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
27	CTCF	chr16:73990580-73990730	HMEC	breast:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
28	CTCF	chr16:73990500-73990650	HAc	cerebellar:	n/a	n/a
29	CTCF	chr16:73990640-73990790	HA-sp	spinal cord:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
30	CTCF	chr16:73990572-73990822	Hela-S3	cervix:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
31	CTCF	chr16:73990836-73990838	LNCaP	prostate:	n/a	n/a
32	CTCF	chr16:73990660-73990810	MCF-7	breast:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
33	CTCF	chr16:73990559-73990844	Gliobla	brain:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
34	CTCF	chr16:73990620-73990770	HBMEC	blood vessel:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
35	CTCF	chr16:73990620-73990770	K562	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
36	CTCF	chr16:73990620-73990770	AoAF	blood vessel:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
37	CTCF	chr16:73990568-73990835	LNCaP	prostate:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
38	CTCF	chr16:73990260-73990410	AG04450	lung:	n/a	n/a
39	CTCF	chr16:73990621-73990770	GM12892	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
40	CTCF	chr16:73990587-73990807	Fibrobl	skin:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
41	CTCF	chr16:74000900-74001050	A549	lung:	n/a	n/a
42	CTCF	chr16:73990600-73990750	AG10803	skin:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
43	CTCF	chr16:73990540-73990690	HVMF	connective:	n/a	n/a
44	CTCF	chr16:73990479-73990794	H1-hESC	embryonic stem cell:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
45	CTCF	chr16:73990660-73990810	GM12870	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
46	CTCF	chr16:73990580-73990730	RPTEC	kidney:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
47	CTCF	chr16:73990540-73990690	WI-38	lung:	n/a	n/a
48	CTCF	chr16:73990598-73990795	GM19240	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
49	CTCF	chr16:73990485-73990895	GM12878	blood:	n/a	chr16:73990678-73990694 chr16:73990677-73990695
50	CTCF	chr16:73990640-73990790	HPAF	blood vessel:	n/a	chr16:73990678-73990694 chr16:73990677-73990695

No.	Distal block	Cell Line	Cell type
1	chr16:73993240..73994968-chr16:73996254..73999706,3	K562	blood:
2	chr16:73598863..73599792-chr16:73989910..73991145,6	MCF-7	breast:
3	chr16:73912334..73913139-chr16:73990173..73991006,2	MCF-7	breast:
4	chr16:73598757..73599423-chr16:73991227..73991798,2	MCF-7	breast:
5	chr16:73990170..73991091-chr16:74068493..74069035,2	MCF-7	breast:
6	chr16:73992368..73994990-chr16:73995142..73997032,2	MCF-7	breast:
7	chr16:73993240..73994968-chr16:73996254..73999706,3	K562	blood:
8	chr16:73764561..73765193-chr16:73987981..73988674,2	MCF-7	breast:
9	chr16:73990566..73991128-chr16:74260572..74261318,2	MCF-7	breast:
10	chr16:73748191..73748792-chr16:73990234..73991163,4	MCF-7	breast:
11	chr16:73990291..73990950-chr16:74068417..74069327,2	MCF-7	breast:
12	chr16:73992368..73994990-chr16:73995142..73997032,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-4	chr16:73986392-73986469	NONHSAT143653
2	lnc-CLEC18B-4	chr16:73982950-73983770	NONHSAT143652
3	lnc-CLEC18B-4	chr16:73982488-73983770	XLOC_012006
4	lnc-CLEC18B-4	chr16:73986392-73986469	NONHSAT143652
5	lnc-CLEC18B-4	chr16:73982950-73983773	NONHSAT143653

Variant related genes	Relation type
RPSAP56	TF binding region

Extended variants
information (count: 578 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375811273	chr16:73975441-73975442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4888052	chr16:73975451-73975452	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540353420	chr16:73975480-73975481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373599151	chr16:73975483-73975484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368044699	chr16:73975494-73975495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144483881	chr16:73975516-73975517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113309192	chr16:73975535-73975536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188278464	chr16:73977427-73977428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62041540	chr16:73977442-73977443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112480809	chr16:73977449-73977450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568987745	chr16:73977450-73977451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369786358	chr16:73977457-73977458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548194114	chr16:73977459-73977460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566339514	chr16:73977522-73977523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535368971	chr16:73977531-73977532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs553400030	chr16:73977568-73977569	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551790726	chr16:73978855-73978856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187082337	chr16:73978866-73978867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373050611	chr16:73978872-73978873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190033132	chr16:73978899-73978900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182256542	chr16:73978908-73978909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57362126	chr16:73978927-73978928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569255097	chr16:73978950-73978951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147197172	chr16:73978973-73978974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370983468	chr16:73978974-73978975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140478277	chr16:73978987-73978988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548737782	chr16:73979029-73979030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116448092	chr16:73979132-73979133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374358747	chr16:73979133-73979134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559038322	chr16:73979155-73979156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111864853	chr16:73979167-73979168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76311903	chr16:73979187-73979188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538199354	chr16:73979226-73979227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556500026	chr16:73979248-73979249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186631004	chr16:73979280-73979281	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs193097936	chr16:73979284-73979285	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs370796189	chr16:73979287-73979288	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs144523257	chr16:73979306-73979307	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs115931706	chr16:73979311-73979312	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185567166	chr16:73979324-73979325	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs117560096	chr16:73979344-73979345	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531219573	chr16:73979415-73979416	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116905902	chr16:73979423-73979424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563062879	chr16:73979463-73979464	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs57084008	chr16:73979523-73979524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34399534	chr16:73979547-73979548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188425755	chr16:73979558-73979559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371216841	chr16:73979568-73979569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9927723	chr16:73979580-73979581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572762965	chr16:73979596-73979597	Weak transcription Enhancers	n/a	n/a	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
Hepatocellular carcinoma	16750200	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
Cancer	17160897	CNVD
Breast cancer	20409316	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73978800-73979000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:73979000-73979400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr16:73979000-73979600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:73979400-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:73979400-73981000	Enhancers	Brain Germinal Matrix	brain
6	chr16:73980000-73981000	Enhancers	Fetal Stomach	stomach
7	chr16:73980800-73981000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:73981000-73981600	Weak transcription	Fetal Stomach	stomach
9	chr16:73981000-73985600	Weak transcription	Brain Germinal Matrix	brain
10	chr16:73981600-73981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:73981600-73981800	Enhancers	Fetal Muscle Leg	muscle
12	chr16:73981600-73982000	Enhancers	Fetal Lung	lung
13	chr16:73981600-73986600	Enhancers	Fetal Stomach	stomach
14	chr16:73982000-73983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:73982000-73983200	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:73982000-73983400	Weak transcription	Fetal Lung	lung
17	chr16:73983200-73983400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:73983200-73983400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr16:73983200-73983400	Enhancers	Psoas Muscle	Psoas
20	chr16:73983200-73983800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:73983200-73984200	Enhancers	NHLF	lung
22	chr16:73983200-73984400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:73983200-73984400	Enhancers	NHDF-Ad	bronchial
24	chr16:73983200-73986200	Enhancers	Fetal Muscle Leg	muscle
25	chr16:73983400-73983600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:73983400-73983600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:73983400-73983600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
28	chr16:73983400-73983600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr16:73983400-73983600	Enhancers	Placenta	Placenta
30	chr16:73983400-73983600	Flanking Active TSS	Psoas Muscle	Psoas
31	chr16:73983400-73983600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr16:73983400-73983600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr16:73983400-73983800	Enhancers	Fetal Lung	lung
34	chr16:73983400-73983800	Enhancers	Pancreas	Pancrea
35	chr16:73983400-73984000	Enhancers	HSMM	muscle
36	chr16:73983400-73984200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:73983400-73984200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:73983400-73984200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr16:73983400-73984200	Enhancers	Stomach Smooth Muscle	stomach
40	chr16:73983400-73984200	Enhancers	Hela-S3	cervix
41	chr16:73983400-73984400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:73983400-73984800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr16:73983400-73990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:73983600-73983800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:73983600-73983800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:73983600-73983800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr16:73983600-73983800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr16:73983600-73984200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr16:73983600-73984400	Enhancers	Adipose Nuclei	Adipose
50	chr16:73983600-73984400	Enhancers	Psoas Muscle	Psoas

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