Variant report

Variant	esv3313072
Chromosome Location	chr16:81243705-81248799
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	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
2	chr16:81238218..81239252-chr16:81247860..81248811,3	MCF-7	breast:
3	chr16:81241227..81242898-chr16:81245721..81248177,2	K562	blood:
4	chr16:80957573..80958407-chr16:81248225..81248964,2	MCF-7	breast:
5	chr16:81242972..81244924-chr16:81246844..81249498,3	MCF-7	breast:
6	chr16:81241192..81243910-chr16:81245039..81247038,2	K562	blood:
7	chr16:81068795..81069630-chr16:81248235..81248808,3	MCF-7	breast:
8	chr16:81069305..81071127-chr16:81245572..81248364,2	MCF-7	breast:
9	chr16:81247005..81248627-chr16:81352449..81354700,2	MCF-7	breast:
10	chr16:81245699..81248674-chr16:81249555..81252970,3	MCF-7	breast:
11	chr16:81242972..81244924-chr16:81246844..81249498,3	MCF-7	breast:
12	chr16:81237375..81239298-chr16:81246693..81248653,2	K562	blood:
13	chr16:81248661..81251389-chr16:81251410..81253409,3	K562	blood:
14	chr16:81247068..81250020-chr16:81347732..81349543,2	MCF-7	breast:
15	chr16:81248097..81248854-chr4:25989659..25990237,2	MCF-7	breast:
16	chr16:81241192..81243910-chr16:81245039..81247038,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166454	chromatin interactions
ENSG00000261609	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554832140	chr16:81243706-81243707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75133579	chr16:81243728-81243729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118175248	chr16:81243730-81243731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77056263	chr16:81243733-81243734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72831364	chr16:81243738-81243739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534593692	chr16:81243769-81243770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553023632	chr16:81243792-81243793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12934294	chr16:81243799-81243800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115929358	chr16:81243803-81243804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113819748	chr16:81243825-81243826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555008895	chr16:81243830-81243831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62052421	chr16:81243843-81243844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12921811	chr16:81243847-81243848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12921813	chr16:81243849-81243850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540673250	chr16:81243852-81243853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369493296	chr16:81243853-81243854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200964197	chr16:81243854-81243855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201935992	chr16:81243855-81243856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62052422	chr16:81243880-81243881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565270806	chr16:81243904-81243905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181781242	chr16:81243940-81243941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541690049	chr16:81243948-81243949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201844008	chr16:81243980-81243981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370122703	chr16:81243987-81243988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561366657	chr16:81244006-81244007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530247896	chr16:81244010-81244011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550185240	chr16:81244011-81244012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562996518	chr16:81244020-81244021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185962705	chr16:81244038-81244039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374399475	chr16:81244042-81244043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111901863	chr16:81244047-81244048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570095469	chr16:81244048-81244049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534340530	chr16:81244058-81244059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111564534	chr16:81244104-81244105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34421340	chr16:81244143-81244144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139325524	chr16:81244152-81244153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576845867	chr16:81244153-81244154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535592659	chr16:81244175-81244176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556875913	chr16:81244176-81244177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149467667	chr16:81244186-81244187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537527845	chr16:81244210-81244211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559122467	chr16:81244212-81244213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35615776	chr16:81244234-81244235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113795306	chr16:81244241-81244242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35601289	chr16:81244248-81244249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142130145	chr16:81244249-81244250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113711358	chr16:81244267-81244268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34184301	chr16:81244271-81244272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62052423	chr16:81244313-81244314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554390390	chr16:81244314-81244315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81244600-81244800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81244800-81246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81245000-81245200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:81246200-81246600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81246200-81246800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:81246400-81246600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:81246400-81246600	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr16:81246600-81246800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr16:81246600-81247000	Enhancers	Brain Anterior Caudate	brain
11	chr16:81246600-81247000	Enhancers	Brain Hippocampus Middle	brain
12	chr16:81246600-81248600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:81246800-81247200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:81247000-81248400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:81248000-81248400	Bivalent Enhancer	HepG2	liver
16	chr16:81248200-81248600	Enhancers	A549	lung
17	chr16:81248200-81248800	Bivalent Enhancer	Placenta	Placenta
18	chr16:81248400-81248600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81248400-81248600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:81248400-81248600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr16:81248400-81248600	Flanking Bivalent TSS/Enh	K562	blood
22	chr16:81248400-81248800	Enhancers	Brain Anterior Caudate	brain
23	chr16:81248400-81248800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr16:81248600-81248800	Enhancers	Gastric	stomach
25	chr16:81248600-81249000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:81248600-81253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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