Variant report

Variant	esv3376481
Chromosome Location	chr16:81550754-81550955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81550713..81552453-chr16:81584328..81586999,2	K562	blood:
2	chr16:81548752..81553118-chr16:81553470..81556973,6	K562	blood:
3	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:
4	chr16:81549027..81553526-chr16:81553827..81556992,4	MCF-7	breast:
5	chr16:81548835..81551828-chr16:81553933..81555713,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9745369	chr16:81550758-81550759	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529806980	chr16:81550761-81550762	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57832904	chr16:81550765-81550766	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59681336	chr16:81550772-81550773	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57260920	chr16:81550777-81550778	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547836472	chr16:81550785-81550786	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59549738	chr16:81550792-81550793	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60255057	chr16:81550797-81550798	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111813672	chr16:81550801-81550802	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142464958	chr16:81550805-81550806	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61564891	chr16:81550808-81550809	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551739667	chr16:81550812-81550813	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56811011	chr16:81550816-81550817	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113877773	chr16:81550820-81550821	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57298401	chr16:81550821-81550822	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56870074	chr16:81550827-81550828	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60345020	chr16:81550834-81550835	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570441646	chr16:81550844-81550845	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60939807	chr16:81550847-81550848	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs60876909	chr16:81550850-81550851	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59057708	chr16:81550858-81550859	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553141218	chr16:81550864-81550865	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574498591	chr16:81550882-81550883	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72827200	chr16:81550901-81550902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572340138	chr16:81550932-81550933	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186823525	chr16:81550950-81550951	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:81541400-81551400	Enhancers	HUVEC	blood vessel
3	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:81545400-81553000	Weak transcription	Hela-S3	cervix
6	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81547600-81551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:81547600-81551200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr16:81547600-81551600	Enhancers	Adipose Nuclei	Adipose
11	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
15	chr16:81547800-81553000	Weak transcription	Brain Anterior Caudate	brain
16	chr16:81547800-81553000	Genic enhancers	A549	lung
17	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:81548000-81551000	Weak transcription	Osteobl	bone
20	chr16:81548000-81551400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:81548000-81551400	Weak transcription	NHLF	lung
22	chr16:81548000-81552800	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:81548000-81553000	Weak transcription	Brain Substantia Nigra	brain
24	chr16:81548000-81553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:81548000-81553800	Strong transcription	Primary T cells from cord blood	blood
26	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:81548200-81551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:81548200-81551200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:81548200-81551200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:81548200-81551200	Weak transcription	NH-A	brain
32	chr16:81548200-81551800	Weak transcription	HSMMtube	muscle
33	chr16:81548200-81554400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:81548200-81559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:81548200-81560000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:81548200-81560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:81548400-81553000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:81548400-81553000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:81548400-81553600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:81548600-81551400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:81548600-81551800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr16:81548600-81551800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr16:81548600-81552800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr16:81548600-81553000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:81548600-81553200	Weak transcription	Gastric	stomach
46	chr16:81548800-81552800	Weak transcription	Stomach Mucosa	stomach
47	chr16:81548800-81553000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:81548800-81553200	Weak transcription	Colonic Mucosa	Colon
49	chr16:81548800-81555600	Weak transcription	Small Intestine	intestine
50	chr16:81548800-81558000	Strong transcription	Fetal Stomach	stomach

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