Variant report

Variant	esv3313439
Chromosome Location	chr16:81173894-81174427
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	MAX	chr16:81174423-81175462	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PKD1L2	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189549302	chr16:81173895-81173896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200855767	chr16:81173911-81173912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73601278	chr16:81173916-81173917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75607557	chr16:81173920-81173921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376244115	chr16:81173924-81173925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112513126	chr16:81173925-81173926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560136111	chr16:81173987-81173988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28622482	chr16:81174012-81174013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548866548	chr16:81174025-81174026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28410148	chr16:81174026-81174027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563801504	chr16:81174047-81174048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531651309	chr16:81174068-81174069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370803197	chr16:81174070-81174071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149424004	chr16:81174126-81174127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552260231	chr16:81174133-81174134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570447060	chr16:81174151-81174152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78596537	chr16:81174158-81174159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78014274	chr16:81174170-81174171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577436644	chr16:81174183-81174184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535374712	chr16:81174184-81174185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556945607	chr16:81174188-81174189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576386067	chr16:81174189-81174190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543411021	chr16:81174196-81174197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78771371	chr16:81174212-81174213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559049094	chr16:81174216-81174217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552150152	chr16:81174218-81174219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112740885	chr16:81174223-81174224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77286603	chr16:81174234-81174235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147537829	chr16:81174238-81174239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528350023	chr16:81174243-81174244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560003990	chr16:81174245-81174246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548238019	chr16:81174247-81174248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561913155	chr16:81174251-81174252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530654255	chr16:81174255-81174256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78329428	chr16:81174257-81174258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78140741	chr16:81174268-81174269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74637723	chr16:81174274-81174275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28555335	chr16:81174276-81174277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539160668	chr16:81174279-81174280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56036557	chr16:81174286-81174287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78602998	chr16:81174301-81174302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75787762	chr16:81174308-81174309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376052242	chr16:81174314-81174315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185720821	chr16:81174317-81174318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386792871	chr16:81174331-81174332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530567011	chr16:81174333-81174334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551880788	chr16:81174334-81174335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570552073	chr16:81174335-81174336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1979194	chr16:81174344-81174345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546257441	chr16:81174349-81174350	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
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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81154000-81198800	Weak transcription	Right Ventricle	heart
3	chr16:81155400-81174600	Weak transcription	Left Ventricle	heart
4	chr16:81165800-81174800	Weak transcription	Spleen	Spleen
5	chr16:81167200-81181000	Enhancers	Placenta	Placenta
6	chr16:81168800-81174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:81170000-81174600	Weak transcription	Esophagus	oesophagus
8	chr16:81170800-81174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:81171000-81176000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:81171200-81174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:81171200-81174600	Weak transcription	HMEC	breast
12	chr16:81171200-81193400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:81171200-81206400	Weak transcription	Ovary	ovary
14	chr16:81171400-81174600	Weak transcription	Brain Substantia Nigra	brain
15	chr16:81171400-81174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:81171400-81185400	Weak transcription	Brain Anterior Caudate	brain
17	chr16:81171600-81174800	Weak transcription	Brain Hippocampus Middle	brain
18	chr16:81171600-81174800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:81171600-81185400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:81171600-81192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81173000-81174400	Enhancers	HepG2	liver
22	chr16:81173400-81174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:81173400-81174600	Weak transcription	A549	lung
24	chr16:81173400-81179800	Weak transcription	Adipose Nuclei	Adipose
25	chr16:81173600-81174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr16:81173600-81174600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr16:81173600-81174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:81173600-81176600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:81173600-81177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:81173600-81182800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:81174000-81174400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:81174400-81175200	Flanking Active TSS	HepG2	liver
33	chr16:81174400-81175400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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