Variant report

Variant	nsv1067307
Chromosome Location	chr16:81832031-81851736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81842901-81843195	HepG2	liver:	n/a	n/a
2	ATF1	chr16:81848390-81848725	K562	blood:	n/a	n/a
3	ATF1	chr16:81850414-81850680	K562	blood:	n/a	n/a
4	ATF2	chr16:81837508-81838481	GM12878	blood:	n/a	n/a
5	ATF2	chr16:81843862-81845100	GM12878	blood:	n/a	n/a
6	ATF2	chr16:81842364-81843036	GM12878	blood:	n/a	n/a
7	ATF2	chr16:81848356-81849579	GM12878	blood:	n/a	n/a
8	ATF2	chr16:81850227-81852235	GM12878	blood:	n/a	n/a
9	ATF2	chr16:81849023-81849485	GM12878	blood:	n/a	n/a
10	ATF2	chr16:81830527-81832960	GM12878	blood:	n/a	n/a
11	ATF2	chr16:81850180-81852251	GM12878	blood:	n/a	n/a
12	ATF2	chr16:81844267-81845167	GM12878	blood:	n/a	n/a
13	ATF2	chr16:81842275-81843583	GM12878	blood:	n/a	n/a
14	ATF2	chr16:81837558-81838562	GM12878	blood:	n/a	n/a
15	ATF2	chr16:81831664-81832992	GM12878	blood:	n/a	n/a
16	BATF	chr16:81832109-81832702	GM12878	blood:	n/a	n/a
17	BATF	chr16:81842486-81843052	GM12878	blood:	n/a	n/a
18	BATF	chr16:81831590-81832792	GM12878	blood:	n/a	n/a
19	BATF	chr16:81843951-81844267	GM12878	blood:	n/a	n/a
20	BATF	chr16:81837650-81838250	GM12878	blood:	n/a	n/a
21	BATF	chr16:81844377-81844936	GM12878	blood:	n/a	n/a
22	BATF	chr16:81849022-81849430	GM12878	blood:	n/a	n/a
23	BATF	chr16:81850179-81850625	GM12878	blood:	n/a	n/a
24	BATF	chr16:81851448-81851927	GM12878	blood:	n/a	n/a
25	BATF	chr16:81841480-81841926	GM12878	blood:	n/a	n/a
26	BCL11A	chr16:81837663-81838278	GM12878	blood:	n/a	n/a
27	BCL11A	chr16:81844420-81844911	GM12878	blood:	n/a	n/a
28	BCL11A	chr16:81850277-81850641	GM12878	blood:	n/a	chr16:81850449-81850458
29	BCL11A	chr16:81849078-81849480	GM12878	blood:	n/a	chr16:81849263-81849272
30	BCL11A	chr16:81842461-81843067	GM12878	blood:	n/a	chr16:81842748-81842757
31	BCL11A	chr16:81842479-81842962	GM12878	blood:	n/a	chr16:81842748-81842757
32	BCL11A	chr16:81831712-81832786	GM12878	blood:	n/a	n/a
33	BCL11A	chr16:81850190-81850734	GM12878	blood:	n/a	chr16:81850449-81850458
34	BCL11A	chr16:81843977-81844254	GM12878	blood:	n/a	n/a
35	BCL11A	chr16:81843887-81844363	GM12878	blood:	n/a	n/a
36	BCL11A	chr16:81851431-81851886	GM12878	blood:	n/a	n/a
37	BCL11A	chr16:81851489-81851719	GM12878	blood:	n/a	n/a
38	BCL11A	chr16:81832012-81832813	GM12878	blood:	n/a	n/a
39	BCL3	chr16:81839144-81839416	GM12878	blood:	n/a	n/a
40	BCL3	chr16:81831718-81832861	GM12878	blood:	n/a	n/a
41	BCL3	chr16:81831810-81832748	GM12878	blood:	n/a	n/a
42	BCL3	chr16:81849008-81849444	GM12878	blood:	n/a	chr16:81849263-81849272
43	BCL3	chr16:81850229-81850710	GM12878	blood:	n/a	chr16:81850449-81850458
44	BCL3	chr16:81842299-81843030	GM12878	blood:	n/a	chr16:81842748-81842757
45	BCL3	chr16:81844416-81844917	GM12878	blood:	n/a	n/a
46	BCL3	chr16:81851403-81851857	GM12878	blood:	n/a	n/a
47	BCL3	chr16:81849055-81849489	GM12878	blood:	n/a	chr16:81849263-81849272
48	BCLAF1	chr16:81843776-81844355	GM12878	blood:	n/a	n/a
49	BCLAF1	chr16:81837557-81838526	GM12878	blood:	n/a	n/a
50	BCLAF1	chr16:81850240-81851261	GM12878	blood:	n/a	chr16:81850449-81850458

No.	Distal block	Cell Line	Cell type
1	chr16:81846967..81849391-chr16:81855617..81857822,2	K562	blood:
2	chr16:81830336..81831988-chr16:81835659..81838054,2	K562	blood:
3	chr16:81831968..81834919-chr16:81846611..81849339,2	MCF-7	breast:
4	chr16:81849121..81851772-chr16:81861664..81863431,2	MCF-7	breast:
5	chr16:81851613..81854068-chr16:81882143..81884584,2	K562	blood:
6	chr16:81829860..81832944-chr16:81833647..81836080,3	K562	blood:
7	chr16:81844065..81846034-chr16:81859888..81862460,2	K562	blood:
8	chr16:81829889..81831836-chr16:81836554..81838108,2	K562	blood:

Variant related genes	Relation type
PLCG2	TF binding region
ENSG00000197943	chromatin interactions

Extended variants
information (count: 1326 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574566000	chr16:81832038-81832039	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542070328	chr16:81832066-81832067	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116461035	chr16:81832098-81832099	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs556544578	chr16:81832102-81832103	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530410743	chr16:81832124-81832125	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs189558007	chr16:81832128-81832129	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181867025	chr16:81832142-81832143	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528159994	chr16:81832148-81832149	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs140604704	chr16:81832160-81832161	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs150454792	chr16:81832163-81832164	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs530246512	chr16:81832166-81832167	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs548824078	chr16:81832231-81832232	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs4265800	chr16:81832232-81832233	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537781168	chr16:81832244-81832245	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs114332311	chr16:81832247-81832248	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs564320521	chr16:81832292-81832293	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs117585223	chr16:81832309-81832310	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs138504153	chr16:81832312-81832313	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs115357520	chr16:81832355-81832356	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs185442316	chr16:81832356-81832357	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs557170239	chr16:81832358-81832359	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs189967758	chr16:81832368-81832369	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs79766885	chr16:81832393-81832394	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563719635	chr16:81832423-81832424	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs528098159	chr16:81832431-81832432	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143905052	chr16:81832433-81832434	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs147279894	chr16:81832435-81832436	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs548487854	chr16:81832440-81832441	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs542167736	chr16:81832450-81832451	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs76704368	chr16:81832454-81832455	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs373860097	chr16:81832455-81832456	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181602941	chr16:81832460-81832461	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569959484	chr16:81832481-81832482	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs534714184	chr16:81832495-81832496	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs79105869	chr16:81832503-81832504	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116768284	chr16:81832507-81832508	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs114834283	chr16:81832514-81832515	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs139158169	chr16:81832522-81832523	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs575126853	chr16:81832528-81832529	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs539321605	chr16:81832536-81832537	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs557647194	chr16:81832563-81832564	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs572466358	chr16:81832574-81832575	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs551750677	chr16:81832584-81832585	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs539851154	chr16:81832609-81832610	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs561763294	chr16:81832618-81832619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs573638972	chr16:81832671-81832672	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs544322048	chr16:81832685-81832686	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs552267530	chr16:81832719-81832720	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs563843060	chr16:81832738-81832739	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs80084509	chr16:81832813-81832814	Weak transcription Enhancers Flanking Active TSS 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:323 , 50 per page) page: 1 2 3 4 5 6 7

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	chr16:81828800-81832800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:81828800-81833600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:81829200-81832200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81829200-81842400	Weak transcription	Pancreas	Pancrea
8	chr16:81829400-81832200	Enhancers	Fetal Thymus	thymus
9	chr16:81829400-81835200	Enhancers	Primary hematopoietic stem cells	blood
10	chr16:81829600-81832800	Enhancers	Placenta	Placenta
11	chr16:81829800-81833200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr16:81830000-81832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:81830200-81834200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:81830800-81832200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:81830800-81832800	Flanking Active TSS	GM12878-XiMat	blood
16	chr16:81830800-81842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:81831000-81832600	Enhancers	Left Ventricle	heart
18	chr16:81831000-81834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:81831200-81832600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr16:81831400-81832400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:81831400-81832800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr16:81831600-81832600	Enhancers	Spleen	Spleen
23	chr16:81831600-81833000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr16:81831800-81832400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:81831800-81832400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:81831800-81832600	Enhancers	Esophagus	oesophagus
27	chr16:81831800-81832600	Enhancers	Fetal Heart	heart
28	chr16:81831800-81832600	Enhancers	Lung	lung
29	chr16:81831800-81832600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr16:81831800-81832600	Enhancers	Right Ventricle	heart
31	chr16:81831800-81832800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:81831800-81832800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:81831800-81832800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81831800-81832800	Enhancers	Adipose Nuclei	Adipose
35	chr16:81831800-81832800	Enhancers	Brain Substantia Nigra	brain
36	chr16:81831800-81832800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr16:81831800-81832800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr16:81831800-81833000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr16:81831800-81833000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr16:81831800-81833000	Enhancers	Duodenum Mucosa	Duodenum
41	chr16:81831800-81833000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr16:81832000-81832200	Enhancers	Right Atrium	heart
43	chr16:81832000-81832400	Enhancers	Brain Hippocampus Middle	brain
44	chr16:81832000-81832400	Enhancers	Fetal Kidney	kidney
45	chr16:81832000-81832400	Enhancers	Fetal Muscle Leg	muscle
46	chr16:81832000-81832800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:81832000-81832800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:81832000-81832800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr16:81832000-81832800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr16:81832000-81833000	Flanking Active TSS	Thymus	Thymus

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