Variant report

Variant	esv3312531
Chromosome Location	chr16:72107276-72109824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr16:72106469-72107388	K562	blood:	n/a	n/a
2	CTCF	chr16:72109600-72109750	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr16:72107180-72107330	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr16:72107560-72107710	AoAF	blood vessel:	n/a	n/a
5	EP300	chr16:72106411-72107300	HepG2	liver:	n/a	n/a
6	FOXA1	chr16:72106697-72107299	HepG2	liver:	n/a	n/a
7	FOXA1	chr16:72106545-72107298	HepG2	liver:	n/a	n/a
8	FOXA2	chr16:72106595-72107303	HepG2	liver:	n/a	n/a
9	FOXA2	chr16:72106711-72107298	HepG2	liver:	n/a	n/a
10	GATA1	chr16:72106595-72107516	K562	blood:	n/a	n/a
11	GATA3	chr16:72108230-72108514	MCF-7	breast:	n/a	n/a
12	HEY1	chr16:72106470-72107939	HepG2	liver:	n/a	n/a
13	HEY1	chr16:72106734-72107332	HepG2	liver:	n/a	n/a
14	JUND	chr16:72108480-72108730	HepG2	liver:	n/a	chr16:72108582-72108591
15	KAP1	chr16:72106670-72107485	K562	blood:	n/a	chr16:72107405-72107413
16	MYBL2	chr16:72106399-72107419	HepG2	liver:	n/a	n/a
17	MYBL2	chr16:72106592-72107701	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:72108825-72108872	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:72108036-72108052	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:72107372-72107928	HepG2	liver:	n/a	n/a
21	POLR2A	chr16:72107810-72107931	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:72108152-72108188	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:72106838-72107371	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:72106283-72107978	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:72106305-72107360	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:72108229-72108230	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:72107580-72107987	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:72108251-72108344	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:72108025-72108027	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:72106752-72107307	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:72108000-72108018	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:72107511-72107834	HepG2	liver:	n/a	n/a
33	POLR2A	chr16:72106855-72107626	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:72106407-72107395	H1-hESC	embryonic stem cell:	n/a	n/a
35	RFX5	chr16:72107813-72107875	HepG2	liver:	n/a	n/a
36	SETDB1	chr16:72106760-72107327	K562	blood:	n/a	n/a
37	SP1	chr16:72106611-72107313	HepG2	liver:	n/a	chr16:72106945-72106956
38	TBP	chr16:72106643-72107313	HepG2	liver:	n/a	n/a
39	TEAD4	chr16:72106201-72107819	HepG2	liver:	n/a	n/a
40	ZNF143	chr16:72107039-72107282	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72107601..72110331-chr16:72118448..72121540,3	MCF-7	breast:
2	chr16:72098840..72102253-chr16:72104146..72107637,4	K562	blood:
3	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:

No data

Variant related genes	Relation type
HPR	TF binding region
ENSG00000260252	chromatin interactions
ENSG00000140830	chromatin interactions
ENSG00000140829	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs191097206	chr16:72107285-72107286	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139445047	chr16:72107375-72107376	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113186879	chr16:72107387-72107388	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372466859	chr16:72107448-72107449	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs573150574	chr16:72107462-72107463	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs180723968	chr16:72107483-72107484	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs187414189	chr16:72107489-72107490	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs541862691	chr16:72107559-72107560	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558020017	chr16:72107578-72107579	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543599908	chr16:72107583-72107584	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570270203	chr16:72107586-72107587	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537107726	chr16:72107590-72107591	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs117637662	chr16:72107591-72107592	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573656270	chr16:72107592-72107593	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534637667	chr16:72107596-72107597	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs140010387	chr16:72107631-72107632	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs117689220	chr16:72107660-72107661	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs577905396	chr16:72107663-72107664	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs545297447	chr16:72107686-72107687	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs529979337	chr16:72107691-72107692	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200861600	chr16:72107692-72107693	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575118944	chr16:72107693-72107694	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs543491181	chr16:72107698-72107699	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561883354	chr16:72107713-72107714	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs529242302	chr16:72107717-72107718	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs547523742	chr16:72107724-72107725	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs367728425	chr16:72107743-72107744	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200086170	chr16:72107764-72107765	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201646102	chr16:72107765-72107766	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370065405	chr16:72107766-72107767	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2550871	chr16:72107767-72107768	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373244131	chr16:72107802-72107803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs376396822	chr16:72107828-72107829	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200965047	chr16:72107830-72107831	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs369512628	chr16:72107831-72107832	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552063562	chr16:72107862-72107863	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11642506	chr16:72107865-72107866	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375828112	chr16:72107866-72107867	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149980917	chr16:72107887-72107888	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563170452	chr16:72107890-72107891	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375705777	chr16:72107905-72107906	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145219636	chr16:72107941-72107942	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534608114	chr16:72107960-72107961	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192132222	chr16:72107982-72107983	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532197171	chr16:72107995-72107996	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577582230	chr16:72108019-72108020	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538530116	chr16:72108023-72108024	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370146059	chr16:72108033-72108034	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529390893	chr16:72108046-72108047	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557251989	chr16:72108059-72108060	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
2	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
3	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
6	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
7	chr16:72090200-72107600	Weak transcription	Gastric	stomach
8	chr16:72090200-72118400	Weak transcription	Lung	lung
9	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:72093800-72107400	Weak transcription	Fetal Stomach	stomach
11	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:72094800-72108000	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
15	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:72098600-72107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
20	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:72103400-72107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:72103600-72110600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
24	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:72105200-72108600	Enhancers	Brain Angular Gyrus	brain
26	chr16:72105200-72108600	Enhancers	Ovary	ovary
27	chr16:72105600-72107600	Enhancers	Fetal Intestine Large	intestine
28	chr16:72105800-72107600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:72106200-72107400	Weak transcription	Right Atrium	heart
30	chr16:72106200-72107600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:72106200-72109000	Enhancers	Stomach Mucosa	stomach
32	chr16:72106400-72107400	Flanking Active TSS	HepG2	liver
33	chr16:72106400-72107600	Weak transcription	Left Ventricle	heart
34	chr16:72106400-72108000	Enhancers	Fetal Heart	heart
35	chr16:72106400-72108400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr16:72106400-72109000	Enhancers	Duodenum Mucosa	Duodenum
37	chr16:72106400-72118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:72106600-72107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:72106600-72108400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
41	chr16:72106800-72107600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:72106800-72107600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr16:72106800-72108000	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr16:72106800-72108000	Enhancers	Psoas Muscle	Psoas
45	chr16:72106800-72108600	Enhancers	Pancreas	Pancrea
46	chr16:72106800-72108600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr16:72106800-72112000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:72106800-72117800	Weak transcription	Fetal Intestine Small	intestine
49	chr16:72106800-72118000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:72107000-72107800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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