Variant report

Variant	nsv1055567
Chromosome Location	chr16:76151892-76200446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr16:76198817-76199366	GM12878	blood:	n/a	n/a
2	BHLHE40	chr16:76199039-76199164	GM12878	blood:	n/a	n/a
3	CEBPB	chr16:76190511-76190776	A549	lung:	n/a	n/a
4	CEBPB	chr16:76157843-76158213	Hela-S3	cervix:	n/a	chr16:76158029-76158040
5	CEBPB	chr16:76157859-76158197	A549	lung:	n/a	chr16:76158029-76158040
6	CEBPB	chr16:76190493-76190837	IMR90	lung:	n/a	n/a
7	CEBPB	chr16:76190498-76190826	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:76159866-76160102	MCF-7	breast:	n/a	chr16:76159936-76159949
9	CEBPB	chr16:76157854-76158207	IMR90	lung:	n/a	chr16:76158029-76158040
10	CEBPB	chr16:76157877-76158203	MCF-7	breast:	n/a	chr16:76158029-76158040
11	CEBPB	chr16:76172099-76172368	MCF-7	breast:	n/a	n/a
12	CEBPB	chr16:76157853-76158224	H1-hESC	embryonic stem cell:	n/a	chr16:76158029-76158040
13	CEBPB	chr16:76157892-76158146	HepG2	liver:	n/a	chr16:76158029-76158040
14	CEBPB	chr16:76157884-76158214	K562	blood:	n/a	chr16:76158029-76158040
15	CEBPB	chr16:76157851-76158221	HepG2	liver:	n/a	chr16:76158029-76158040
16	CEBPB	chr16:76157831-76158205	MCF-7	breast:	n/a	chr16:76158029-76158040
17	CHD2	chr16:76191853-76191884	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr16:76191652-76191777	HepG2	liver:	n/a	n/a
19	CTCF	chr16:76191580-76191730	MCF-7	breast:	n/a	n/a
20	CTCF	chr16:76191600-76191750	HepG2	liver:	n/a	n/a
21	CTCF	chr16:76191683-76191765	GM19238	blood:	n/a	n/a
22	CTCF	chr16:76191640-76191790	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr16:76155160-76155310	Caco-2	colon:	n/a	n/a
24	CTCF	chr16:76191640-76191790	HEK293	kidney:	n/a	n/a
25	CTCF	chr16:76191620-76191795	MCF-7	breast:	n/a	n/a
26	CTCF	chr16:76191600-76191750	GM12864	blood:	n/a	n/a
27	CTCF	chr16:76191680-76191830	GM12875	blood:	n/a	n/a
28	CTCF	chr16:76191700-76191850	GM12873	blood:	n/a	n/a
29	CTCF	chr16:76191605-76191799	MCF-7	breast:	n/a	n/a
30	CTCF	chr16:76191627-76191863	GM12878	blood:	n/a	n/a
31	CTCF	chr16:76191540-76191690	HMEC	breast:	n/a	n/a
32	CTCF	chr16:76191660-76191810	Caco-2	colon:	n/a	n/a
33	CTCF	chr16:76191597-76191759	HepG2	liver:	n/a	n/a
34	CTCF	chr16:76191620-76191770	GM12865	blood:	n/a	n/a
35	CTCF	chr16:76191589-76191903	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr16:76191860-76192010	HCFaa	heart:	n/a	n/a
37	CTCF	chr16:76191684-76191687	K562	blood:	n/a	n/a
38	CTCF	chr16:76191600-76191750	GM12873	blood:	n/a	n/a
39	CTCF	chr16:76191603-76191790	LNCaP	prostate:	n/a	n/a
40	CTCF	chr16:76191660-76191810	GM12867	blood:	n/a	n/a
41	CTCF	chr16:76191660-76191810	GM12874	blood:	n/a	n/a
42	CTCF	chr16:76191620-76191770	GM12866	blood:	n/a	n/a
43	CTCF	chr16:76191700-76191850	NHEK	skin:	n/a	n/a
44	CTCF	chr16:76191660-76191810	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr16:76191620-76191770	GM12871	blood:	n/a	n/a
46	CTCF	chr16:76191600-76191750	Caco-2	colon:	n/a	n/a
47	CTCF	chr16:76191682-76191768	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr16:76191670-76191781	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:76191740-76191890	HMEC	breast:	n/a	n/a
50	CTCF	chr16:76191620-76191770	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
2	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
3	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
4	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:
5	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
6	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
7	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
8	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
9	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-2	chr16:76181454-76181621	XLOC_012013
2	lnc-AC025287.1-2	chr16:76169537-76169877	NONHSAT143772
3	lnc-AC025287.1-2	chr16:76181458-76181704	ENSG00000260223.1
4	lnc-AC025287.1-2	chr16:76170020-76170263	ENSG00000260223.1
5	lnc-AC025287.1-2	chr16:76174260-76174301	ENSG00000260223.1
6	lnc-AC025287.1-2	chr16:76181458-76181677	ENSG00000260223.1
7	lnc-AC025287.1-2	chr16:76169538-76169877	XLOC_012013
8	lnc-AC025287.1-2	chr16:76181453-76181621	NONHSAT143772

No data

Variant related genes	Relation type
ENSG00000260223	TF binding region

Extended variants
information (count: 1580 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546125220	chr16:76151898-76151899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556686768	chr16:76151917-76151918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192916029	chr16:76151924-76151925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376972016	chr16:76151942-76151943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542259586	chr16:76151958-76151959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144329563	chr16:76151977-76151978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16943873	chr16:76151980-76151981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541432540	chr16:76151992-76151993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373839687	chr16:76152010-76152011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564500944	chr16:76152029-76152030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148777655	chr16:76152101-76152102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552522635	chr16:76152111-76152112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562655640	chr16:76152114-76152115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75370066	chr16:76152140-76152141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182778248	chr16:76152150-76152151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568062568	chr16:76152154-76152155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533671081	chr16:76152167-76152168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11648269	chr16:76152170-76152171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs368411819	chr16:76152176-76152177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539713944	chr16:76152181-76152182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145127578	chr16:76152185-76152186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556580061	chr16:76152209-76152210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75320722	chr16:76152213-76152214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187424458	chr16:76152240-76152241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555972506	chr16:76152270-76152271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572548893	chr16:76152296-76152297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112789741	chr16:76152298-76152299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147599559	chr16:76152306-76152307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578072501	chr16:76152323-76152324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140412411	chr16:76152330-76152331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573086484	chr16:76152458-76152459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562631969	chr16:76152495-76152496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532826893	chr16:76152510-76152511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531679351	chr16:76152515-76152516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548061557	chr16:76152526-76152527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561954855	chr16:76152535-76152536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535610739	chr16:76152569-76152570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144153049	chr16:76152640-76152641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536947281	chr16:76152667-76152668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116074418	chr16:76152678-76152679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114898611	chr16:76152698-76152699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549787339	chr16:76152717-76152718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192421854	chr16:76152725-76152726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536173523	chr16:76152798-76152799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62050533	chr16:76152830-76152831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555722257	chr16:76152831-76152832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572694016	chr16:76152834-76152835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200901658	chr16:76152839-76152840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558293063	chr16:76152862-76152863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578174551	chr16:76152877-76152878	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	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76149600-76155400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:76155400-76155600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:76157200-76158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:76157400-76158200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:76158000-76158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:76158200-76181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:76159800-76160200	Enhancers	HMEC	breast
8	chr16:76171400-76172000	Enhancers	Placenta	Placenta
9	chr16:76174000-76176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:76174200-76174600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:76174200-76175400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:76174400-76175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:76175000-76175800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:76175200-76175600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr16:76175200-76175800	Enhancers	Brain Substantia Nigra	brain
16	chr16:76176600-76176800	Enhancers	Brain Angular Gyrus	brain
17	chr16:76179400-76179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:76195200-76196200	Enhancers	Brain Substantia Nigra	brain
19	chr16:76196200-76196600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:76196600-76197000	Enhancers	Brain Substantia Nigra	brain

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