Variant report

Variant	esv3529479
Chromosome Location	chr16:70977692-70980004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70969502..70971128-chr16:70977170..70980144,2	K562	blood:
2	chr16:70975629..70978329-chr16:70983065..70987137,4	MCF-7	breast:
3	chr16:70961723..70963824-chr16:70975853..70978413,2	K562	blood:
4	chr16:70978242..70980847-chr16:70987111..70991166,3	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569446601	chr16:70977692-70977693	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs12149139	chr16:70977695-70977696	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368817424	chr16:70977699-70977700	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373477891	chr16:70977700-70977701	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376657235	chr16:70977708-70977709	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369820222	chr16:70977711-70977712	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544257498	chr16:70977712-70977713	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373719742	chr16:70977714-70977715	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201209591	chr16:70977722-70977723	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537243629	chr16:70977736-70977737	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555322962	chr16:70977741-70977742	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370320329	chr16:70977742-70977743	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534624061	chr16:70977754-70977755	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554172768	chr16:70977755-70977756	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs267604620	chr16:70977769-70977770	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373778348	chr16:70977772-70977773	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376723579	chr16:70977775-70977776	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201309160	chr16:70977778-70977779	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200310909	chr16:70977783-70977784	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373485481	chr16:70977793-70977794	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377411172	chr16:70977794-70977795	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368915859	chr16:70977796-70977797	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371050100	chr16:70977823-70977824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191539779	chr16:70977827-70977828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368359335	chr16:70977832-70977833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201833742	chr16:70977833-70977834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145680422	chr16:70977835-70977836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144493779	chr16:70977860-70977861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185494919	chr16:70977864-70977865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374873097	chr16:70977882-70977883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533569178	chr16:70977912-70977913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533544601	chr16:70977931-70977932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115508241	chr16:70977947-70977948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116776569	chr16:70977956-70977957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148438433	chr16:70977969-70977970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75883948	chr16:70977970-70977971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374042374	chr16:70977979-70977980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116562114	chr16:70978000-70978001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116056354	chr16:70978004-70978005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142604910	chr16:70978011-70978012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114819952	chr16:70978038-70978039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570574872	chr16:70978053-70978054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190503050	chr16:70978056-70978057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182214936	chr16:70978097-70978098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2502727	chr16:70978115-70978116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185113705	chr16:70978120-70978121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114054375	chr16:70978127-70978128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79569872	chr16:70978136-70978137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543560105	chr16:70978140-70978141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75939407	chr16:70978172-70978173	Enhancers Weak transcription	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
small cell lung cancer	20016488	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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70970000-70977800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr16:70970000-70978000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70971200-70979800	Weak transcription	NHDF-Ad	bronchial
4	chr16:70971200-70980400	Weak transcription	Right Atrium	heart
5	chr16:70971400-70987200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:70971400-70993400	Weak transcription	Brain Angular Gyrus	brain
7	chr16:70971400-70997200	Weak transcription	Fetal Kidney	kidney
8	chr16:70971600-70983600	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:70972000-70978600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:70973200-70983600	Weak transcription	Fetal Intestine Small	intestine
11	chr16:70974800-70979400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:70975600-70980000	Weak transcription	Pancreas	Pancrea
13	chr16:70975600-70984600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:70975800-70980000	Weak transcription	Aorta	Aorta
15	chr16:70975800-70980000	Weak transcription	Brain Germinal Matrix	brain
16	chr16:70975800-70980000	Weak transcription	Spleen	Spleen
17	chr16:70975800-70985200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:70976000-70985200	Weak transcription	Brain Anterior Caudate	brain
19	chr16:70976600-70978600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70976800-70978600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:70977000-70985400	Weak transcription	Fetal Brain Female	brain
22	chr16:70977600-70977800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:70977600-70977800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:70977600-70978000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:70977600-70978000	Enhancers	Esophagus	oesophagus
26	chr16:70977800-70978000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:70977800-70978400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr16:70977800-70980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:70977800-70980000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:70978000-70978400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr16:70978000-70978400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr16:70978000-70979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:70978000-70980000	Weak transcription	Esophagus	oesophagus
34	chr16:70978000-70980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:70978400-70979400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr16:70978400-70979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:70978600-70979600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:70978600-70979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:70978600-70980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:70979400-70980000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr16:70979400-70980600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr16:70979600-70979800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:70979600-70980000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr16:70979600-70980000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:70979600-70980600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:70979800-70980000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70979800-70980600	Enhancers	NHDF-Ad	bronchial
48	chr16:70979800-70980800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:70980000-70980200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr16:70980000-70980200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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