Variant report

Variant	esv8808
Chromosome Location	chr16:71061923-71062079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71061827..71064339-chr16:71071388..71072891,2	K562	blood:
2	chr16:71061201..71063992-chr16:71068444..71070337,2	K562	blood:
3	chr16:71061848..71063742-chr16:71063882..71066688,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539363826	chr16:71061931-71061932	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375083890	chr16:71061947-71061948	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs1018958	chr16:71061955-71061956	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558867943	chr16:71061957-71061958	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577218208	chr16:71061999-71062000	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544680904	chr16:71062000-71062001	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs556415394	chr16:71062009-71062010	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs113390039	chr16:71062012-71062013	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs55783560	chr16:71062021-71062022	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376497181	chr16:71062035-71062036	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71040400-71073800	Weak transcription	Pancreas	Pancrea
2	chr16:71047600-71063800	Weak transcription	Fetal Intestine Small	intestine
3	chr16:71047600-71068600	Weak transcription	Fetal Intestine Large	intestine
4	chr16:71048400-71065200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:71049200-71066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:71056000-71065200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:71056400-71068800	Weak transcription	Brain Substantia Nigra	brain
8	chr16:71056400-71088200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:71056600-71066400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:71056600-71088000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:71058200-71062000	Weak transcription	Fetal Brain Male	brain
12	chr16:71058200-71087800	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:71059400-71062200	Weak transcription	Fetal Brain Female	brain
14	chr16:71059400-71062200	Weak transcription	Right Atrium	heart
15	chr16:71060200-71062200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:71060200-71064000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr16:71060400-71064200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:71060600-71063200	Enhancers	Fetal Stomach	stomach
19	chr16:71060800-71062000	Weak transcription	Brain Germinal Matrix	brain
20	chr16:71061000-71062200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:71061200-71062200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:71061200-71062600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:71061200-71062800	Enhancers	Fetal Muscle Leg	muscle
24	chr16:71061200-71063400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr16:71061400-71062000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr16:71061400-71062000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr16:71061400-71062000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr16:71061400-71062000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:71061400-71062000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr16:71061400-71062000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:71061400-71062000	ZNF genes & repeats	Ovary	ovary
32	chr16:71061400-71062000	Enhancers	NHDF-Ad	bronchial
33	chr16:71061400-71063200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:71061400-71063200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:71061400-71063400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr16:71061400-71063600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:71061600-71062000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr16:71061600-71062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:71061600-71062400	Bivalent Enhancer	Small Intestine	intestine
40	chr16:71061600-71062600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:71061600-71062600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:71061600-71063200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr16:71061800-71062200	Weak transcription	Brain Anterior Caudate	brain
44	chr16:71061800-71062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:71061800-71063000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr16:71061800-71069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:71061800-71071400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:71062000-71062200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr16:71062000-71062200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr16:71062000-71062200	Enhancers	HUES64 Cell Line	embryonic stem cell

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