Variant report

Variant	esv3312980
Chromosome Location	chr16:70977390-70980225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 148 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67684495	chr16:70977454-70977455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377085696	chr16:70977485-70977486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1798379	chr16:70977516-70977517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531917062	chr16:70977541-70977542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12149627	chr16:70977546-70977547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550141152	chr16:70977547-70977548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74953668	chr16:70977554-70977555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79214233	chr16:70977558-70977559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74024607	chr16:70977564-70977565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12149629	chr16:70977593-70977594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12149138	chr16:70977601-70977602	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562395505	chr16:70977607-70977608	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186792602	chr16:70977613-70977614	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35860406	chr16:70977620-70977621	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565353949	chr16:70977642-70977643	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561868188	chr16:70977643-70977644	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76776007	chr16:70977647-70977648	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539119758	chr16:70977652-70977653	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375486590	chr16:70977669-70977670	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368129513	chr16:70977670-70977671	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371605116	chr16:70977676-70977677	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374840259	chr16:70977677-70977678	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569446601	chr16:70977692-70977693	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12149139	chr16:70977695-70977696	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs368817424	chr16:70977699-70977700	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373477891	chr16:70977700-70977701	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376657235	chr16:70977708-70977709	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369820222	chr16:70977711-70977712	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544257498	chr16:70977712-70977713	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373719742	chr16:70977714-70977715	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201209591	chr16:70977722-70977723	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537243629	chr16:70977736-70977737	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555322962	chr16:70977741-70977742	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370320329	chr16:70977742-70977743	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534624061	chr16:70977754-70977755	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554172768	chr16:70977755-70977756	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs267604620	chr16:70977769-70977770	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs373778348	chr16:70977772-70977773	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376723579	chr16:70977775-70977776	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201309160	chr16:70977778-70977779	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200310909	chr16:70977783-70977784	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373485481	chr16:70977793-70977794	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377411172	chr16:70977794-70977795	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368915859	chr16:70977796-70977797	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371050100	chr16:70977823-70977824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191539779	chr16:70977827-70977828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368359335	chr16:70977832-70977833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201833742	chr16:70977833-70977834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145680422	chr16:70977835-70977836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144493779	chr16:70977860-70977861	Weak transcription Enhancers	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:74 , 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	chr16:70974200-70977600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70974800-70979400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:70975600-70980000	Weak transcription	Pancreas	Pancrea
14	chr16:70975600-70984600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:70975800-70977600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:70975800-70980000	Weak transcription	Aorta	Aorta
17	chr16:70975800-70980000	Weak transcription	Brain Germinal Matrix	brain
18	chr16:70975800-70980000	Weak transcription	Spleen	Spleen
19	chr16:70975800-70985200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:70976000-70985200	Weak transcription	Brain Anterior Caudate	brain
21	chr16:70976600-70978600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70976800-70978600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:70977000-70985400	Weak transcription	Fetal Brain Female	brain
24	chr16:70977600-70977800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:70977600-70977800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:70977600-70978000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:70977600-70978000	Enhancers	Esophagus	oesophagus
28	chr16:70977800-70978000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:70977800-70978400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr16:70977800-70980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:70977800-70980000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:70978000-70978400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr16:70978000-70978400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr16:70978000-70979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:70978000-70980000	Weak transcription	Esophagus	oesophagus
36	chr16:70978000-70980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70978400-70979400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:70978400-70979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:70978600-70979600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:70978600-70979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:70978600-70980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr16:70979400-70980000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr16:70979400-70980600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr16:70979600-70979800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70979600-70980000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr16:70979600-70980000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:70979600-70980600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:70979800-70980000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:70979800-70980600	Enhancers	NHDF-Ad	bronchial
50	chr16:70979800-70980800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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