Variant report

Variant	esv3313416
Chromosome Location	chr16:75429649-75430549
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	MAFF	chr16:75430034-75430116	HepG2	liver:	n/a	n/a
2	MAFK	chr16:75430008-75430155	IMR90	lung:	n/a	n/a
3	MAFK	chr16:75429932-75430267	HepG2	liver:	n/a	n/a
4	MAFK	chr16:75429963-75430190	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CFDP1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576475561	chr16:75429663-75429664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181967720	chr16:75429684-75429685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545472011	chr16:75429700-75429701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185841632	chr16:75429706-75429707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111585523	chr16:75429707-75429708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541622034	chr16:75429730-75429731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62059844	chr16:75429737-75429738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs370346890	chr16:75429754-75429755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116600662	chr16:75429792-75429793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190969701	chr16:75429828-75429829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200930564	chr16:75429849-75429850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77246010	chr16:75429853-75429854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80308714	chr16:75429888-75429889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74024778	chr16:75429895-75429896	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563201644	chr16:75429899-75429900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181037508	chr16:75429922-75429923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186540736	chr16:75429928-75429929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111935643	chr16:75429966-75429967	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566272942	chr16:75429998-75429999	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190122043	chr16:75430044-75430045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372235303	chr16:75430086-75430087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552080938	chr16:75430106-75430107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561829070	chr16:75430111-75430112	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377118409	chr16:75430132-75430133	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74323077	chr16:75430212-75430213	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs537017462	chr16:75430243-75430244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187364606	chr16:75430279-75430280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs459128	chr16:75430315-75430316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567608388	chr16:75430345-75430346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2550318	chr16:75430354-75430355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536749685	chr16:75430392-75430393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553094440	chr16:75430401-75430402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558144311	chr16:75430506-75430507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548115526	chr16:75430512-75430513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
3	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
4	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
5	chr16:75415400-75443200	Weak transcription	Small Intestine	intestine
6	chr16:75415600-75453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:75421000-75429800	Strong transcription	Primary T cells from cord blood	blood
8	chr16:75421600-75430000	Strong transcription	HepG2	liver
9	chr16:75422600-75429800	Strong transcription	Dnd41	blood
10	chr16:75424600-75435600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:75424800-75430000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:75425400-75454200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:75425400-75457200	Weak transcription	Fetal Brain Male	brain
14	chr16:75427000-75443400	Weak transcription	Hela-S3	cervix
15	chr16:75427200-75431800	Weak transcription	Pancreas	Pancrea
16	chr16:75427200-75431800	Weak transcription	Right Atrium	heart
17	chr16:75427200-75435600	Weak transcription	NHDF-Ad	bronchial
18	chr16:75427200-75435600	Weak transcription	NHEK	skin
19	chr16:75427200-75435800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:75427200-75438400	Weak transcription	GM12878-XiMat	blood
21	chr16:75427200-75438600	Weak transcription	Ovary	ovary
22	chr16:75427200-75439200	Weak transcription	Fetal Brain Female	brain
23	chr16:75427200-75440000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:75427200-75441600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:75427200-75443400	Weak transcription	Fetal Kidney	kidney
26	chr16:75427200-75445000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:75427200-75445400	Weak transcription	Brain Angular Gyrus	brain
28	chr16:75427200-75445400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr16:75427200-75445400	Weak transcription	A549	lung
30	chr16:75427200-75445400	Weak transcription	K562	blood
31	chr16:75427200-75446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:75427200-75449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:75427200-75464400	Weak transcription	Esophagus	oesophagus
34	chr16:75427200-75465400	Weak transcription	Spleen	Spleen
35	chr16:75427400-75431800	Weak transcription	NHLF	lung
36	chr16:75427400-75438400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:75427600-75441000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr16:75428200-75431800	Weak transcription	Fetal Heart	heart
39	chr16:75428200-75435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:75428200-75435800	Weak transcription	HSMMtube	muscle
41	chr16:75428200-75453400	Weak transcription	Psoas Muscle	Psoas
42	chr16:75428400-75441600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:75428600-75435400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:75429000-75431200	Weak transcription	Fetal Stomach	stomach
45	chr16:75429000-75431800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:75429000-75431800	Weak transcription	Aorta	Aorta
47	chr16:75429000-75431800	Weak transcription	Left Ventricle	heart
48	chr16:75429000-75432000	Weak transcription	Right Ventricle	heart
49	chr16:75429000-75434400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:75429000-75435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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