Variant report

Variant	nsv523908
Chromosome Location	chr16:81840122-81844691
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	chr16:81844065..81846034-chr16:81859888..81862460,2	K562	blood:

Extended variants
information (count: 304 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12599264	chr16:81840122-81840123	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75826294	chr16:81840125-81840126	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs555502652	chr16:81840154-81840155	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs573824745	chr16:81840171-81840172	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs536036270	chr16:81840195-81840196	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs557304976	chr16:81840216-81840217	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146806571	chr16:81840220-81840221	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184495733	chr16:81840223-81840224	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189427453	chr16:81840230-81840231	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139629803	chr16:81840292-81840293	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142792946	chr16:81840310-81840311	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561843900	chr16:81840312-81840313	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180674297	chr16:81840323-81840324	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550739233	chr16:81840337-81840338	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562571635	chr16:81840415-81840416	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533229399	chr16:81840418-81840419	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151047143	chr16:81840420-81840421	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78659947	chr16:81840484-81840485	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563840465	chr16:81840493-81840494	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549037623	chr16:81840499-81840500	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374246280	chr16:81840515-81840516	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567353057	chr16:81840530-81840531	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184939672	chr16:81840536-81840537	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557501251	chr16:81840546-81840547	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376882553	chr16:81840631-81840632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111922848	chr16:81840653-81840654	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189323331	chr16:81840663-81840664	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150383366	chr16:81840670-81840671	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34603417	chr16:81840709-81840710	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143575989	chr16:81840724-81840725	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115409391	chr16:81840737-81840738	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145112480	chr16:81840752-81840753	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574060197	chr16:81840766-81840767	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544404030	chr16:81840768-81840769	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562671657	chr16:81840778-81840779	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531264276	chr16:81840800-81840801	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142131420	chr16:81840805-81840806	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34261675	chr16:81840816-81840817	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398078790	chr16:81840817-81840818	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397710440	chr16:81840818-81840819	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181663081	chr16:81840821-81840822	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527326955	chr16:81840833-81840834	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560462880	chr16:81840836-81840837	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527617177	chr16:81840858-81840859	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546984792	chr16:81840865-81840866	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116798351	chr16:81840866-81840867	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145967895	chr16:81840885-81840886	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531401234	chr16:81840922-81840923	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549618922	chr16:81840927-81840928	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79256102	chr16:81840937-81840938	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	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:106 , 50 per page) page: 1 2 3

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	chr16:81832800-81840800	Weak transcription	Placenta	Placenta
8	chr16:81832800-81848600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:81833000-81841600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:81833200-81841400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:81833200-81842000	Genic enhancers	Primary B cells from cord blood	blood
12	chr16:81837400-81842000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr16:81838200-81842400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:81838400-81844000	Weak transcription	Gastric	stomach
15	chr16:81838600-81841400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81838600-81851400	Weak transcription	Right Atrium	heart
17	chr16:81838800-81841800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:81839600-81842000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:81839800-81840200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:81839800-81840600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:81839800-81841200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:81839800-81841600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:81839800-81842800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:81840000-81840200	Enhancers	Lung	lung
25	chr16:81840000-81840200	Enhancers	Spleen	Spleen
26	chr16:81840000-81840600	Enhancers	Duodenum Mucosa	Duodenum
27	chr16:81840200-81841000	Genic enhancers	Spleen	Spleen
28	chr16:81840200-81841800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr16:81840200-81842600	Weak transcription	Lung	lung
30	chr16:81840600-81840800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr16:81840600-81841600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:81840600-81848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:81840800-81841000	Enhancers	Placenta	Placenta
34	chr16:81840800-81842400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:81841000-81841200	Enhancers	Colonic Mucosa	Colon
36	chr16:81841000-81842400	Weak transcription	Spleen	Spleen
37	chr16:81841000-81842600	Weak transcription	Placenta	Placenta
38	chr16:81841200-81841800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr16:81841200-81842000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:81841400-81843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:81841400-81843200	Enhancers	Fetal Thymus	thymus
42	chr16:81841400-81845200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr16:81841600-81842800	Enhancers	Duodenum Mucosa	Duodenum
44	chr16:81841600-81844200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr16:81841600-81845000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr16:81841800-81843200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr16:81841800-81843400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr16:81841800-81843600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr16:81841800-81844200	Enhancers	Primary hematopoietic stem cells	blood
50	chr16:81842000-81842400	Enhancers	GM12878-XiMat	blood

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