Variant report

Variant	nsv573381
Chromosome Location	chr16:82784943-82805384
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	chr16:82795055-82795275	H1-hESC	embryonic stem cell:	n/a	chr16:82795159-82795172
2	CEBPB	chr16:82794930-82795257	Hela-S3	cervix:	n/a	chr16:82795159-82795172
3	CEBPB	chr16:82794786-82795354	IMR90	lung:	n/a	chr16:82795159-82795172
4	CEBPB	chr16:82793574-82793858	HepG2	liver:	n/a	chr16:82793699-82793710
5	CEBPB	chr16:82794905-82795256	A549	lung:	n/a	chr16:82795159-82795172
6	CEBPB	chr16:82793698-82793750	K562	blood:	n/a	chr16:82793699-82793710
7	CEBPB	chr16:82793367-82793845	IMR90	lung:	n/a	chr16:82793383-82793394 chr16:82793699-82793710
8	CTCF	chr16:82789277-82789471	MCF-7	breast:	n/a	chr16:82789374-82789381
9	CTCF	chr16:82789300-82789450	HCFaa	heart:	n/a	chr16:82789374-82789381
10	CTCF	chr16:82789284-82789446	MCF-7	breast:	n/a	chr16:82789374-82789381
11	CTCF	chr16:82789280-82789430	GM12865	blood:	n/a	chr16:82789374-82789381
12	CTCF	chr16:82789260-82789410	GM06990	blood:	n/a	chr16:82789374-82789381
13	CTCF	chr16:82789320-82789470	GM12875	blood:	n/a	chr16:82789374-82789381
14	CTCF	chr16:82789244-82789505	IMR90	lung:	n/a	chr16:82789374-82789381
15	CTCF	chr16:82789280-82789430	HA-sp	spinal cord:	n/a	chr16:82789374-82789381
16	CTCF	chr16:82789260-82789410	HRE	kidney:	n/a	chr16:82789374-82789381
17	CTCF	chr16:82789160-82789310	HFF	foreskin:	n/a	n/a
18	CTCF	chr16:82795600-82795750	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr16:82789320-82789470	HUVEC	blood vessel:	n/a	chr16:82789374-82789381
20	CTCF	chr16:82789360-82789510	NB4	blood:	n/a	chr16:82789374-82789381
21	CTCF	chr16:82789200-82789350	HCT-116	colon:	n/a	n/a
22	CTCF	chr16:82789240-82789390	GM12872	blood:	n/a	chr16:82789374-82789381
23	CTCF	chr16:82789260-82789410	AG09309	skin:	n/a	chr16:82789374-82789381
24	CTCF	chr16:82789360-82789510	RPTEC	kidney:	n/a	chr16:82789374-82789381
25	CTCF	chr16:82789284-82789456	Gliobla	brain:	n/a	chr16:82789374-82789381
26	CTCF	chr16:82789260-82789410	Hela-S3	cervix:	n/a	chr16:82789374-82789381
27	CTCF	chr16:82788960-82789110	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr16:82789280-82789430	HPAF	blood vessel:	n/a	chr16:82789374-82789381
29	CTCF	chr16:82789340-82789490	HPAF	blood vessel:	n/a	chr16:82789374-82789381
30	CTCF	chr16:82789300-82789450	GM12872	blood:	n/a	chr16:82789374-82789381
31	CTCF	chr16:82789360-82789510	HMEC	breast:	n/a	chr16:82789374-82789381
32	CTCF	chr16:82788779-82788904	GM12878	blood:	n/a	n/a
33	CTCF	chr16:82789140-82789290	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr16:82789240-82789390	GM06990	blood:	n/a	chr16:82789374-82789381
35	CTCF	chr16:82789320-82789470	Hela-S3	cervix:	n/a	chr16:82789374-82789381
36	CTCF	chr16:82789320-82789470	HAc	cerebellar:	n/a	chr16:82789374-82789381
37	CTCF	chr16:82789296-82789434	HepG2	liver:	n/a	chr16:82789374-82789381
38	CTCF	chr16:82789320-82789470	AG10803	skin:	n/a	chr16:82789374-82789381
39	CTCF	chr16:82789200-82789350	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr16:82789380-82789530	GM12865	blood:	n/a	n/a
41	CTCF	chr16:82789340-82789490	Caco-2	colon:	n/a	chr16:82789374-82789381
42	CTCF	chr16:82789300-82789450	HCPEpiC	choroid plexus:	n/a	chr16:82789374-82789381
43	CTCF	chr16:82789300-82789450	BJ	skin:	n/a	chr16:82789374-82789381
44	CTCF	chr16:82789380-82789530	RPTEC	kidney:	n/a	n/a
45	CTCF	chr16:82789300-82789450	HBMEC	blood vessel:	n/a	chr16:82789374-82789381
46	CTCF	chr16:82789280-82789430	GM12873	blood:	n/a	chr16:82789374-82789381
47	CTCF	chr16:82789300-82789450	AoAF	blood vessel:	n/a	chr16:82789374-82789381
48	CTCF	chr16:82789360-82789510	NHEK	skin:	n/a	chr16:82789374-82789381
49	CTCF	chr16:82789280-82789430	BJ	skin:	n/a	chr16:82789374-82789381
50	CTCF	chr16:82789240-82789390	HCT-116	colon:	n/a	chr16:82789374-82789381

No.	Distal block	Cell Line	Cell type
1	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:
2	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:
3	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:

Variant related genes	Relation type
ENSG00000260862	TF binding region

Extended variants
information (count: 1118 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1350888	chr16:82784943-82784944	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555604780	chr16:82784994-82784995	Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573929289	chr16:82785062-82785063	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115385081	chr16:82785077-82785078	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556279350	chr16:82785078-82785079	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114022103	chr16:82785089-82785090	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145607509	chr16:82785090-82785091	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560309250	chr16:82785094-82785095	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115143555	chr16:82785102-82785103	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541951181	chr16:82785106-82785107	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74827422	chr16:82785111-82785112	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16958504	chr16:82785119-82785120	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527897313	chr16:82785122-82785123	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549989630	chr16:82785125-82785126	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571424183	chr16:82785131-82785132	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532108970	chr16:82785135-82785136	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140359776	chr16:82785156-82785157	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546446855	chr16:82785170-82785171	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564625511	chr16:82785172-82785173	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536228395	chr16:82785194-82785195	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145415668	chr16:82785224-82785225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184939218	chr16:82785248-82785249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374039832	chr16:82785256-82785257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538109487	chr16:82785278-82785279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188771493	chr16:82785288-82785289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12598962	chr16:82785301-82785302	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545188460	chr16:82785309-82785310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397974200	chr16:82785325-82785326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62034518	chr16:82785330-82785331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192106032	chr16:82785334-82785335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572380049	chr16:82785354-82785355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543043638	chr16:82785363-82785364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62034519	chr16:82785364-82785365	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79563937	chr16:82785367-82785368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78544115	chr16:82785370-82785371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564953679	chr16:82785434-82785435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8048570	chr16:82785446-82785447	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559377223	chr16:82785462-82785463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116237572	chr16:82785470-82785471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564105008	chr16:82785478-82785479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547792456	chr16:82785479-82785480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8049363	chr16:82785556-82785557	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538169523	chr16:82785566-82785567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529792859	chr16:82785571-82785572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8048858	chr16:82785585-82785586	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548338137	chr16:82785615-82785616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184695533	chr16:82785667-82785668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189478156	chr16:82785688-82785689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572495804	chr16:82785720-82785721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536700862	chr16:82785728-82785729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82774600-82787400	Weak transcription	NHEK	skin
5	chr16:82781600-82789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:82781800-82785400	Enhancers	HUVEC	blood vessel
7	chr16:82781800-82788400	Weak transcription	Fetal Heart	heart
8	chr16:82781800-82788600	Weak transcription	Right Atrium	heart
9	chr16:82781800-82788800	Weak transcription	Aorta	Aorta
10	chr16:82782000-82787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:82782000-82790000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:82782200-82786200	Weak transcription	NH-A	brain
13	chr16:82782200-82787200	Weak transcription	NHDF-Ad	bronchial
14	chr16:82782200-82787200	Weak transcription	Osteobl	bone
15	chr16:82782200-82787600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:82782200-82788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:82782200-82790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:82782400-82787000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:82782400-82789200	Weak transcription	HSMMtube	muscle
20	chr16:82782600-82790200	Weak transcription	Adipose Nuclei	Adipose
21	chr16:82783800-82785000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:82783800-82788600	Weak transcription	Psoas Muscle	Psoas
23	chr16:82784200-82786000	Strong transcription	HSMM	muscle
24	chr16:82784400-82785000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:82784800-82785200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr16:82784800-82785200	Enhancers	Lung	lung
27	chr16:82784800-82786400	Enhancers	Left Ventricle	heart
28	chr16:82784800-82786800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:82784800-82789400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr16:82785000-82788800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:82785200-82786400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr16:82785200-82787000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:82785200-82794200	Weak transcription	Lung	lung
34	chr16:82785400-82785800	Weak transcription	HUVEC	blood vessel
35	chr16:82785400-82786400	Weak transcription	Right Ventricle	heart
36	chr16:82785800-82786600	Enhancers	HUVEC	blood vessel
37	chr16:82786000-82787200	Weak transcription	HSMM	muscle
38	chr16:82786200-82786400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:82786200-82786400	Enhancers	NH-A	brain
40	chr16:82786400-82786800	Weak transcription	NH-A	brain
41	chr16:82786400-82787200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:82786400-82788600	Weak transcription	Left Ventricle	heart
43	chr16:82786600-82787400	Weak transcription	HUVEC	blood vessel
44	chr16:82786800-82790800	Enhancers	NH-A	brain
45	chr16:82786800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:82787000-82788000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr16:82787000-82790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:82787200-82787800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:82787200-82787800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:82787200-82787800	Enhancers	HSMM	muscle

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