Variant report

Variant	esv1828970
Chromosome Location	chr16:81837844-81840684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81830336..81831988-chr16:81835659..81838054,2	K562	blood:
2	chr16:81829889..81831836-chr16:81836554..81838108,2	K562	blood:

Extended variants
information (count: 194 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11640578	chr16:81837846-81837847	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs180930348	chr16:81837858-81837859	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555588521	chr16:81837873-81837874	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568967056	chr16:81837889-81837890	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567602682	chr16:81837917-81837918	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200459426	chr16:81837922-81837923	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538173357	chr16:81837945-81837946	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556490695	chr16:81837962-81837963	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74348074	chr16:81837981-81837982	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545442995	chr16:81838037-81838038	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs185982486	chr16:81838043-81838044	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs572617538	chr16:81838052-81838053	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs147135703	chr16:81838075-81838076	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs561101112	chr16:81838076-81838077	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs140324192	chr16:81838077-81838078	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs543374306	chr16:81838097-81838098	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs115524804	chr16:81838109-81838110	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs532023799	chr16:81838118-81838119	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs144222732	chr16:81838133-81838134	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs565637474	chr16:81838148-81838149	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs77137814	chr16:81838164-81838165	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs549142361	chr16:81838167-81838168	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs369385259	chr16:81838222-81838223	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs190510549	chr16:81838238-81838239	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs556588287	chr16:81838263-81838264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs571569829	chr16:81838281-81838282	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs551337859	chr16:81838288-81838289	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs571095545	chr16:81838313-81838314	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs538652570	chr16:81838325-81838326	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs182329329	chr16:81838375-81838376	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs572556699	chr16:81838383-81838384	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs144820048	chr16:81838387-81838388	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs528865899	chr16:81838439-81838440	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs540088678	chr16:81838457-81838458	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs114989552	chr16:81838470-81838471	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs186265940	chr16:81838472-81838473	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs148587431	chr16:81838478-81838479	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs117847874	chr16:81838525-81838526	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs142900383	chr16:81838526-81838527	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs151102916	chr16:81838534-81838535	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs558950522	chr16:81838535-81838536	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs529710466	chr16:81838569-81838570	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs547893882	chr16:81838579-81838580	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs74470864	chr16:81838589-81838590	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs190642017	chr16:81838600-81838601	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs531792349	chr16:81838618-81838619	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs550396462	chr16:81838620-81838621	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs571837899	chr16:81838646-81838647	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs539351447	chr16:81838650-81838651	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs535563001	chr16:81838664-81838665	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81827800-81841800	Weak transcription	Fetal Intestine Small	intestine
4	chr16:81829200-81842400	Weak transcription	Pancreas	Pancrea
5	chr16:81830800-81842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:81832400-81842400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:81832600-81838000	Weak transcription	Lung	lung
8	chr16:81832600-81840000	Weak transcription	Spleen	Spleen
9	chr16:81832800-81838800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:81832800-81839800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:81832800-81840800	Weak transcription	Placenta	Placenta
12	chr16:81832800-81848600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:81833000-81841600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr16:81833200-81841400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:81833200-81842000	Genic enhancers	Primary B cells from cord blood	blood
16	chr16:81834000-81838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81837200-81838800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:81837400-81838400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:81837400-81838600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81837400-81842000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr16:81837600-81838000	Weak transcription	Gastric	stomach
22	chr16:81837600-81838000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:81837600-81838200	Enhancers	Duodenum Mucosa	Duodenum
24	chr16:81837600-81838600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81837800-81838200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr16:81837800-81838800	Enhancers	Primary hematopoietic stem cells	blood
27	chr16:81838000-81838400	ZNF genes & repeats	Gastric	stomach
28	chr16:81838000-81838600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81838000-81838600	Enhancers	Lung	lung
30	chr16:81838000-81839400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr16:81838200-81838600	Enhancers	Right Atrium	heart
32	chr16:81838200-81840000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:81838200-81842400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:81838400-81839600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:81838400-81844000	Weak transcription	Gastric	stomach
36	chr16:81838600-81839800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:81838600-81839800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:81838600-81840000	Weak transcription	Lung	lung
39	chr16:81838600-81841400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:81838600-81851400	Weak transcription	Right Atrium	heart
41	chr16:81838800-81839800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:81838800-81841800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:81839400-81839800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:81839600-81842000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:81839800-81840200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:81839800-81840600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:81839800-81841200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:81839800-81841600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr16:81839800-81842800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:81840000-81840200	Enhancers	Lung	lung

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