Variant report

Variant	esv2761927
Chromosome Location	chr16:82569207-82612605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:82580644-82580703	K562	blood:	n/a	n/a
2	CEBPB	chr16:82585143-82585343	A549	lung:	n/a	chr16:82585223-82585234
3	CEBPB	chr16:82585151-82585323	H1-hESC	embryonic stem cell:	n/a	chr16:82585223-82585234
4	CEBPB	chr16:82585225-82585300	K562	blood:	n/a	n/a
5	CEBPB	chr16:82573454-82573660	IMR90	lung:	n/a	chr16:82573545-82573556
6	CEBPB	chr16:82585161-82585255	HepG2	liver:	n/a	chr16:82585223-82585234
7	CEBPB	chr16:82573402-82573698	HepG2	liver:	n/a	chr16:82573545-82573556
8	CEBPB	chr16:82573452-82573663	A549	lung:	n/a	chr16:82573545-82573556
9	CHD2	chr16:82594603-82594610	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr16:82608460-82608610	SAEC	small airway:	n/a	n/a
11	CTCF	chr16:82608240-82608390	NHEK	skin:	n/a	n/a
12	CTCF	chr16:82608220-82608370	HMF	breast:	n/a	n/a
13	CTCF	chr16:82608200-82608350	AG10803	skin:	n/a	n/a
14	CTCF	chr16:82608200-82608350	HepG2	liver:	n/a	n/a
15	CTCF	chr16:82608240-82608390	BJ	skin:	n/a	n/a
16	CTCF	chr16:82608280-82608430	Caco-2	colon:	n/a	n/a
17	CTCF	chr16:82608260-82608410	HEK293	kidney:	n/a	n/a
18	CTCF	chr16:82608260-82608410	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr16:82572637-82572684	GM20000	blood:	n/a	n/a
20	CTCF	chr16:82608300-82608450	GM12864	blood:	n/a	n/a
21	CTCF	chr16:82608280-82608430	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr16:82608180-82608330	AG09309	skin:	n/a	n/a
23	CTCF	chr16:82608380-82608530	GM12866	blood:	n/a	n/a
24	CTCF	chr16:82608220-82608370	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr16:82608280-82608430	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr16:82608240-82608390	GM12864	blood:	n/a	n/a
27	CTCF	chr16:82608100-82608250	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr16:82608280-82608430	AG10803	skin:	n/a	n/a
29	CTCF	chr16:82608240-82608390	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr16:82608320-82608470	GM12872	blood:	n/a	n/a
31	CTCF	chr16:82608160-82608310	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr16:82608240-82608490	HCT-116	colon:	n/a	n/a
33	CTCF	chr16:82608320-82608470	GM12867	blood:	n/a	n/a
34	CTCF	chr16:82608220-82608370	RPTEC	kidney:	n/a	n/a
35	CTCF	chr16:82608300-82608450	HMEC	breast:	n/a	n/a
36	CTCF	chr16:82608300-82608450	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr16:82608320-82608470	GM12873	blood:	n/a	n/a
38	CTCF	chr16:82608220-82608370	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr16:82608240-82608390	MCF-7	breast:	n/a	n/a
40	CTCF	chr16:82608300-82608450	NHEK	skin:	n/a	n/a
41	CTCF	chr16:82608260-82608410	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr16:82608280-82608430	HMEC	breast:	n/a	n/a
43	CTCF	chr16:82608040-82608190	NHEK	skin:	n/a	n/a
44	CTCF	chr16:82594620-82594770	GM12869	blood:	n/a	n/a
45	CTCF	chr16:82608180-82608330	HEK293	kidney:	n/a	n/a
46	CTCF	chr16:82608220-82608370	HAc	cerebellar:	n/a	n/a
47	CTCF	chr16:82608300-82608450	GM12875	blood:	n/a	n/a
48	CUX1	chr16:82609144-82609239	GM12878	blood:	n/a	n/a
49	E2F4	chr16:82594494-82594514	MCF10A-Er-Src	breast:	n/a	n/a
50	EP300	chr16:82608968-82609055	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
2	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:
3	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
4	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH6-2	chr16:82608754-82609064	XLOC_012025
2	lnc-MPHOSPH6-2	chr16:82608754-82608815	ENSG00000261176.1
3	lnc-MPHOSPH6-2	chr16:82608754-82609064	XLOC_012025
4	lnc-MPHOSPH6-2	chr16:82608395-82608636	XLOC_012025
5	lnc-MPHOSPH6-2	chr16:82578752-82579064	XLOC_012025
6	lnc-MPHOSPH6-2	chr16:82587801-82587853	XLOC_012025
7	lnc-MPHOSPH6-2	chr16:82608395-82608636	ENSG00000261176.1
8	lnc-MPHOSPH6-2	chr16:82587654-82587853	ENSG00000261176.1
9	lnc-MPHOSPH6-2	chr16:82608395-82608636	XLOC_012025

No data

Variant related genes	Relation type
ENSG00000261176	TF binding region
CANX	miRNA target sites
CAP1	miRNA target sites

Extended variants
information (count: 1298 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561658162	chr16:82572200-82572201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555196165	chr16:82572212-82572213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192911063	chr16:82572216-82572217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537617196	chr16:82572296-82572297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544073901	chr16:82572299-82572300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555826988	chr16:82572314-82572315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577647605	chr16:82572322-82572323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111474449	chr16:82572337-82572338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560087491	chr16:82572339-82572340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112870249	chr16:82572358-82572359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183021404	chr16:82572363-82572364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188493313	chr16:82572378-82572379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529627453	chr16:82572381-82572382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530684458	chr16:82572392-82572393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192930014	chr16:82572393-82572394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9319573	chr16:82572397-82572398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571166200	chr16:82572423-82572424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540012187	chr16:82572424-82572425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370095816	chr16:82572432-82572433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397724977	chr16:82572433-82572434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144194085	chr16:82572436-82572437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184590345	chr16:82572445-82572446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563919943	chr16:82572492-82572493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566960845	chr16:82572497-82572498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533900586	chr16:82572504-82572505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141911678	chr16:82572508-82572509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567195858	chr16:82572516-82572517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537778041	chr16:82572522-82572523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555927853	chr16:82572539-82572540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571395418	chr16:82572570-82572571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189229471	chr16:82572604-82572605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145046253	chr16:82572609-82572610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572113724	chr16:82572620-82572621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542608336	chr16:82572629-82572630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138828186	chr16:82572630-82572631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141926755	chr16:82572643-82572644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544955784	chr16:82572647-82572648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563087667	chr16:82572720-82572721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533318404	chr16:82572742-82572743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192639064	chr16:82572771-82572772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559990420	chr16:82572786-82572787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75679328	chr16:82572804-82572805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546370991	chr16:82572806-82572807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560350534	chr16:82572809-82572810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113859617	chr16:82572811-82572812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146034858	chr16:82572818-82572819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11647816	chr16:82572826-82572827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11150474	chr16:82572881-82572882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111705212	chr16:82572926-82572927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571519167	chr16:82572937-82572938	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Ependymoma	20639864	CNVD
Autism	20841430	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82572200-82573400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr16:82572800-82573600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:82573400-82573600	Enhancers	Fetal Brain Female	brain
4	chr16:82573600-82578200	Weak transcription	Fetal Brain Female	brain
5	chr16:82576000-82576200	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:82576400-82577600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:82577400-82578200	Enhancers	Fetal Brain Male	brain
8	chr16:82577400-82578200	Enhancers	Left Ventricle	heart
9	chr16:82577400-82578800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:82577600-82578000	Enhancers	Brain Cingulate Gyrus	brain
11	chr16:82577800-82578000	Enhancers	Psoas Muscle	Psoas
12	chr16:82577800-82578200	Enhancers	Brain Substantia Nigra	brain
13	chr16:82577800-82578400	Enhancers	Brain Anterior Caudate	brain
14	chr16:82577800-82578400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:82577800-82578600	Enhancers	Brain Angular Gyrus	brain
16	chr16:82577800-82578600	Enhancers	Fetal Lung	lung
17	chr16:82577800-82579000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr16:82578000-82578200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr16:82578000-82578400	Enhancers	Fetal Muscle Leg	muscle
20	chr16:82578000-82578400	Enhancers	Right Atrium	heart
21	chr16:82578000-82578600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:82578000-82578600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:82578000-82578800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:82578000-82578800	Enhancers	Brain Germinal Matrix	brain
25	chr16:82578000-82579000	Enhancers	Brain Hippocampus Middle	brain
26	chr16:82578200-82578400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:82578200-82578400	Enhancers	Brain Cingulate Gyrus	brain
28	chr16:82578200-82578400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:82578200-82578600	Active TSS	Brain Substantia Nigra	brain
30	chr16:82578200-82578600	Enhancers	Fetal Brain Female	brain
31	chr16:82578400-82578600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr16:82578600-82578800	Enhancers	Brain Cingulate Gyrus	brain
33	chr16:82578600-82579000	Enhancers	Brain Substantia Nigra	brain
34	chr16:82578600-82580000	Weak transcription	Fetal Brain Female	brain
35	chr16:82578800-82581400	Weak transcription	Brain Germinal Matrix	brain
36	chr16:82579000-82580200	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:82580000-82580200	Enhancers	Fetal Brain Female	brain
38	chr16:82580400-82580600	Enhancers	Brain Hippocampus Middle	brain
39	chr16:82580800-82582000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr16:82581000-82581400	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr16:82581000-82581400	Enhancers	Psoas Muscle	Psoas
42	chr16:82581000-82582400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr16:82581400-82582000	Enhancers	Brain Germinal Matrix	brain
44	chr16:82583000-82583400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:82589200-82590000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr16:82589400-82590000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:82589400-82590000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:82594400-82594800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:82594600-82595400	Enhancers	Fetal Brain Male	brain
50	chr16:82594600-82596600	Enhancers	Fetal Brain Female	brain

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