Variant report

Variant	esv2761926
Chromosome Location	chr16:81830475-81835109
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	ATF2	chr16:81830857-81831544	GM12878	blood:	n/a	n/a
2	ATF2	chr16:81830527-81832960	GM12878	blood:	n/a	n/a
3	ATF2	chr16:81831664-81832992	GM12878	blood:	n/a	n/a
4	BATF	chr16:81831590-81832792	GM12878	blood:	n/a	n/a
5	BATF	chr16:81830957-81831492	GM12878	blood:	n/a	n/a
6	BATF	chr16:81832109-81832702	GM12878	blood:	n/a	n/a
7	BATF	chr16:81831071-81831451	GM12878	blood:	n/a	n/a
8	BATF	chr16:81830453-81830895	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:81832012-81832813	GM12878	blood:	n/a	n/a
10	BCL11A	chr16:81830950-81831450	GM12878	blood:	n/a	n/a
11	BCL11A	chr16:81831712-81832786	GM12878	blood:	n/a	n/a
12	BCL11A	chr16:81831060-81831420	GM12878	blood:	n/a	n/a
13	BCL3	chr16:81831013-81831538	GM12878	blood:	n/a	n/a
14	BCL3	chr16:81831810-81832748	GM12878	blood:	n/a	n/a
15	BCL3	chr16:81831718-81832861	GM12878	blood:	n/a	n/a
16	BCLAF1	chr16:81831584-81832821	GM12878	blood:	n/a	n/a
17	BCLAF1	chr16:81830883-81831486	GM12878	blood:	n/a	n/a
18	BCLAF1	chr16:81830359-81831597	GM12878	blood:	n/a	n/a
19	BCLAF1	chr16:81831612-81832912	GM12878	blood:	n/a	n/a
20	BHLHE40	chr16:81830959-81831455	GM12878	blood:	n/a	n/a
21	BHLHE40	chr16:81831818-81832919	GM12878	blood:	n/a	n/a
22	CEBPB	chr16:81834306-81834553	HepG2	liver:	n/a	chr16:81834462-81834473
23	CEBPB	chr16:81834322-81834549	Hela-S3	cervix:	n/a	chr16:81834462-81834473
24	CEBPB	chr16:81832140-81832522	GM12878	blood:	n/a	chr16:81832344-81832355 chr16:81832343-81832360
25	CEBPB	chr16:81831632-81832865	GM12878	blood:	n/a	chr16:81832344-81832355 chr16:81832343-81832360
26	CEBPB	chr16:81831006-81831338	GM12878	blood:	n/a	n/a
27	CHD1	chr16:81831747-81833006	GM12878	blood:	n/a	n/a
28	CHD2	chr16:81831854-81832894	GM12878	blood:	n/a	n/a
29	CTCF	chr16:81831920-81832070	GM12867	blood:	n/a	n/a
30	CTCF	chr16:81831940-81832090	GM12873	blood:	n/a	n/a
31	CTCF	chr16:81831875-81832084	GM19240	blood:	n/a	chr16:81831888-81831901
32	CTCF	chr16:81832144-81832226	GM12891	blood:	n/a	n/a
33	CTCF	chr16:81831940-81832090	HEK293	kidney:	n/a	n/a
34	CTCF	chr16:81831936-81832026	GM13976	blood:	n/a	n/a
35	CTCF	chr16:81831960-81832110	GM12865	blood:	n/a	n/a
36	CTCF	chr16:81832132-81832253	GM12892	blood:	n/a	n/a
37	CTCF	chr16:81831900-81832050	GM12872	blood:	n/a	n/a
38	CTCF	chr16:81831835-81832092	GM19239	blood:	n/a	chr16:81831888-81831901
39	CTCF	chr16:81831740-81831890	K562	blood:	n/a	n/a
40	CTCF	chr16:81832140-81832290	GM12878	blood:	n/a	n/a
41	CTCF	chr16:81831920-81832070	GM06990	blood:	n/a	n/a
42	CTCF	chr16:81831900-81832050	GM12871	blood:	n/a	n/a
43	CTCF	chr16:81831900-81832050	K562	blood:	n/a	n/a
44	CTCF	chr16:81831860-81832010	GM12870	blood:	n/a	chr16:81831888-81831901
45	CTCF	chr16:81831900-81832050	GM12869	blood:	n/a	n/a
46	CTCF	chr16:81831580-81831730	GM12873	blood:	n/a	n/a
47	CTCF	chr16:81831980-81832130	GM12864	blood:	n/a	n/a
48	CTCF	chr16:81831900-81832050	GM12866	blood:	n/a	n/a
49	CTCF	chr16:81831880-81832030	GM12874	blood:	n/a	chr16:81831888-81831901
50	CTCF	chr16:81831967-81831998	GM13977	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81830336..81831988-chr16:81835659..81838054,2	K562	blood:
2	chr16:81829860..81832944-chr16:81833647..81836080,3	K562	blood:
3	chr16:81829889..81831836-chr16:81836554..81838108,2	K562	blood:
4	chr16:81829706..81831905-chr16:81903990..81906262,2	MCF-7	breast:

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

Extended variants
information (count: 276 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4889384	chr16:81830475-81830476	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187816824	chr16:81830494-81830495	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538982465	chr16:81830506-81830507	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553795046	chr16:81830514-81830515	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117268490	chr16:81830515-81830516	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75646959	chr16:81830520-81830521	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554664974	chr16:81830553-81830554	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574110185	chr16:81830554-81830555	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543050158	chr16:81830572-81830573	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs544792912	chr16:81830593-81830594	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556385736	chr16:81830595-81830596	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75004072	chr16:81830601-81830602	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190777263	chr16:81830605-81830606	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs116149037	chr16:81830608-81830609	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527704458	chr16:81830620-81830621	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542724260	chr16:81830635-81830636	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144640779	chr16:81830637-81830638	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531361281	chr16:81830643-81830644	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559368257	chr16:81830661-81830662	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs367603065	chr16:81830665-81830666	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4441263	chr16:81830669-81830670	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571508648	chr16:81830720-81830721	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531936964	chr16:81830729-81830730	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182978418	chr16:81830734-81830735	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188318098	chr16:81830749-81830750	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545638529	chr16:81830807-81830808	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs375293728	chr16:81830810-81830811	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs565651029	chr16:81830854-81830855	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114663707	chr16:81830861-81830862	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200800971	chr16:81830887-81830888	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs397855749	chr16:81830898-81830899	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs554320587	chr16:81830934-81830935	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569728677	chr16:81830942-81830943	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536785896	chr16:81830960-81830961	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192995844	chr16:81830973-81830974	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184750238	chr16:81830999-81831000	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538915081	chr16:81831011-81831012	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188080160	chr16:81831091-81831092	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572311956	chr16:81831113-81831114	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150580037	chr16:81831119-81831120	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561175322	chr16:81831122-81831123	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576474712	chr16:81831128-81831129	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543969142	chr16:81831172-81831173	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527924264	chr16:81831182-81831183	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532369860	chr16:81831210-81831211	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547673591	chr16:81831215-81831216	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs13380701	chr16:81831251-81831252	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368637152	chr16:81831256-81831257	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs191475395	chr16:81831262-81831263	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139627018	chr16:81831319-81831320	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose
2	chr16:81815400-81830600	Weak transcription	Thymus	Thymus
3	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:81825200-81832000	Weak transcription	Fetal Kidney	kidney
6	chr16:81826000-81831800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81827200-81831800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81827800-81841800	Weak transcription	Fetal Intestine Small	intestine
9	chr16:81828800-81831800	Genic enhancers	Primary B cells from cord blood	blood
10	chr16:81828800-81832800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:81828800-81833600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:81829200-81830800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr16:81829200-81832200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:81829200-81842400	Weak transcription	Pancreas	Pancrea
15	chr16:81829400-81830600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr16:81829400-81831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:81829400-81832200	Enhancers	Fetal Thymus	thymus
18	chr16:81829400-81835200	Enhancers	Primary hematopoietic stem cells	blood
19	chr16:81829600-81830800	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:81829600-81831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:81829600-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:81829600-81832800	Enhancers	Placenta	Placenta
23	chr16:81829800-81830800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:81829800-81831200	Enhancers	NHEK	skin
25	chr16:81829800-81831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:81829800-81831400	Enhancers	HMEC	breast
27	chr16:81829800-81833200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:81830000-81830600	Weak transcription	Right Atrium	heart
29	chr16:81830000-81830800	Enhancers	Esophagus	oesophagus
30	chr16:81830000-81831000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:81830000-81831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81830000-81831800	Weak transcription	Lung	lung
33	chr16:81830000-81832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:81830200-81831200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:81830200-81831800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:81830200-81834200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:81830400-81830800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:81830400-81830800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:81830400-81830800	Enhancers	K562	blood
40	chr16:81830400-81831600	Weak transcription	Spleen	Spleen
41	chr16:81830400-81831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:81830600-81830800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr16:81830600-81830800	Enhancers	Right Atrium	heart
44	chr16:81830600-81830800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr16:81830600-81830800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:81830600-81831800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:81830600-81832000	Enhancers	Thymus	Thymus
48	chr16:81830800-81831800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:81830800-81831800	Weak transcription	Esophagus	oesophagus
50	chr16:81830800-81832000	Weak transcription	Right Atrium	heart

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