Variant report

Variant	esv3419877
Chromosome Location	chr16:81204851-81209149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81207788..81211808-chr16:81213340..81216350,7	MCF-7	breast:
2	chr16:81203969..81206813-chr16:81207066..81208613,2	MCF-7	breast:
3	chr16:81207703..81209401-chr16:81309474..81311615,2	MCF-7	breast:
4	chr16:81207814..81210316-chr16:81213416..81216125,2	MCF-7	breast:
5	chr16:81202808..81207445-chr16:81207542..81212680,8	MCF-7	breast:
6	chr16:81208169..81210421-chr16:81211002..81212968,2	MCF-7	breast:
7	chr16:81163789..81165490-chr16:81205338..81207838,2	MCF-7	breast:
8	chr16:81202808..81207445-chr16:81207542..81212680,8	MCF-7	breast:
9	chr16:81203969..81206813-chr16:81207066..81208613,2	MCF-7	breast:
10	chr16:81208882..81211862-chr16:81326884..81329141,2	K562	blood:
11	chr16:81206690..81208975-chr16:81216365..81218786,2	K562	blood:
12	chr16:81068588..81070297-chr16:81206270..81208917,2	MCF-7	breast:
13	chr16:81198299..81202388-chr16:81206238..81210015,4	K562	blood:
14	chr16:81206765..81209231-chr16:81209316..81211675,3	K562	blood:
15	chr16:81109182..81113855-chr16:81207453..81212433,5	MCF-7	breast:
16	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166473	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000166455	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545400819	chr16:81204853-81204854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564992586	chr16:81204888-81204889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112334230	chr16:81204901-81204902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36100071	chr16:81204913-81204914	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578165679	chr16:81204937-81204938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144522297	chr16:81204938-81204939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560710817	chr16:81204980-81204981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527897784	chr16:81204984-81204985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376892075	chr16:81205015-81205016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547607181	chr16:81205021-81205022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542808219	chr16:81205039-81205040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561649779	chr16:81205044-81205045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531877382	chr16:81205064-81205065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549401422	chr16:81205071-81205072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117662728	chr16:81205072-81205073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146108319	chr16:81205098-81205099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140135181	chr16:81205123-81205124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142426002	chr16:81205188-81205189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185848908	chr16:81205231-81205232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75305263	chr16:81205234-81205235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529797045	chr16:81205242-81205243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554431080	chr16:81205246-81205247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115734373	chr16:81205248-81205249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28614115	chr16:81205268-81205269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549641053	chr16:81205269-81205270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370853316	chr16:81205292-81205293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190383962	chr16:81205296-81205297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149980002	chr16:81205305-81205306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538996493	chr16:81205309-81205310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554243919	chr16:81205325-81205326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572422957	chr16:81205338-81205339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12919940	chr16:81205345-81205346	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs182105059	chr16:81205356-81205357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111929136	chr16:81205358-81205359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531842882	chr16:81205385-81205386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543698175	chr16:81205391-81205392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527534466	chr16:81205401-81205402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565196932	chr16:81205424-81205425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71400147	chr16:81205427-81205428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543077124	chr16:81205454-81205455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531983524	chr16:81205478-81205479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186041022	chr16:81205498-81205499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188928853	chr16:81205517-81205518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538225290	chr16:81205524-81205525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56189110	chr16:81205545-81205546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548389986	chr16:81205566-81205567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569749703	chr16:81205569-81205570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11641758	chr16:81205590-81205591	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs9925582	chr16:81205628-81205629	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs59338576	chr16:81205643-81205644	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81171200-81206400	Weak transcription	Ovary	ovary
2	chr16:81188000-81209000	Weak transcription	Right Atrium	heart
3	chr16:81191200-81207000	Weak transcription	A549	lung
4	chr16:81192400-81206800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:81193000-81206400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:81193400-81222600	Weak transcription	Brain Angular Gyrus	brain
7	chr16:81195000-81206800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:81195600-81214400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr16:81195800-81214000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:81197000-81219000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:81198800-81214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:81199000-81214400	Weak transcription	Right Ventricle	heart
13	chr16:81199800-81214000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:81200600-81214200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:81200800-81214600	Weak transcription	Fetal Heart	heart
16	chr16:81201400-81206600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:81201800-81211400	Strong transcription	Adipose Nuclei	Adipose
18	chr16:81201800-81222800	Weak transcription	Spleen	Spleen
19	chr16:81202000-81206000	Weak transcription	Left Ventricle	heart
20	chr16:81204800-81206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:81204800-81208800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:81205200-81214200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:81205200-81214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:81205400-81214000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:81205600-81208000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:81206000-81207000	Strong transcription	Left Ventricle	heart
27	chr16:81206200-81209200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:81206400-81207600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:81206400-81208400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:81206400-81208400	Strong transcription	Ovary	ovary
31	chr16:81206600-81208000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:81206800-81207200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr16:81206800-81207600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:81207000-81207800	Strong transcription	A549	lung
35	chr16:81207000-81214200	Weak transcription	Left Ventricle	heart
36	chr16:81207200-81214200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:81207600-81207800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:81207600-81208000	Bivalent Enhancer	HepG2	liver
39	chr16:81207600-81208400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:81207600-81208400	Weak transcription	NH-A	brain
41	chr16:81207600-81208800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:81207800-81208200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:81207800-81208200	Genic enhancers	A549	lung
44	chr16:81207800-81210800	Enhancers	Placenta	Placenta
45	chr16:81208000-81208400	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr16:81208000-81210000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:81208000-81210000	Enhancers	HMEC	breast
48	chr16:81208000-81210800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:81208000-81222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:81208200-81208400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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