Variant report

Variant	esv3330254
Chromosome Location	chr16:70536801-70538799
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	CTCF	chr16:70538425-70538448	Pancreas_OC	pancreas:	n/a	n/a
2	POLR2A	chr16:70537015-70537079	HepG2	liver:	n/a	n/a
3	YY1	chr16:70537879-70538001	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70536505..70539456-chr16:70548133..70550767,2	MCF-7	breast:
2	chr16:70538068..70540802-chr16:70542880..70545267,2	MCF-7	breast:
3	chr16:70536864..70540404-chr16:70556076..70558403,3	MCF-7	breast:
4	chr16:70534426..70538037-chr16:70538279..70541133,3	K562	blood:

Variant related genes	Relation type
COG4	TF binding region
ENSG00000189091	chromatin interactions
ENSG00000103051	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557401750	chr16:70536816-70536817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11645585	chr16:70536836-70536837	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs182518571	chr16:70536888-70536889	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376231981	chr16:70536899-70536900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566612088	chr16:70536941-70536942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186650289	chr16:70536979-70536980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112614705	chr16:70537080-70537081	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573830113	chr16:70537129-70537130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541267023	chr16:70537159-70537160	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558523565	chr16:70537180-70537181	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559273084	chr16:70537183-70537184	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577674330	chr16:70537218-70537219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs146117471	chr16:70537240-70537241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562964296	chr16:70537290-70537291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs8052125	chr16:70537329-70537330	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs16970226	chr16:70537341-70537342	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561276613	chr16:70537372-70537373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77710363	chr16:70537401-70537402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535900814	chr16:70537432-70537433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117068379	chr16:70537440-70537441	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555775144	chr16:70537462-70537463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571708956	chr16:70537488-70537489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145396286	chr16:70537499-70537500	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200914897	chr16:70537511-70537512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62049039	chr16:70537543-70537544	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532642270	chr16:70537560-70537561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551068351	chr16:70537567-70537568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373237503	chr16:70537622-70537623	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536672112	chr16:70537642-70537643	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs8055504	chr16:70537661-70537662	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554997752	chr16:70537665-70537666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376172404	chr16:70537670-70537671	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370588748	chr16:70537733-70537734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376628458	chr16:70537739-70537740	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567591203	chr16:70537740-70537741	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534572581	chr16:70537744-70537745	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373332404	chr16:70537786-70537787	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191731073	chr16:70537789-70537790	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60939494	chr16:70537792-70537793	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556670137	chr16:70537801-70537802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574975402	chr16:70537833-70537834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201125628	chr16:70537973-70537974	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs542264999	chr16:70537982-70537983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112514812	chr16:70537998-70537999	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532854330	chr16:70538022-70538023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540523212	chr16:70538062-70538063	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565498558	chr16:70538071-70538072	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532564567	chr16:70538087-70538088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183503504	chr16:70538089-70538090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569419258	chr16:70538093-70538094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70517600-70538800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70523200-70542400	Weak transcription	Hela-S3	cervix
6	chr16:70524400-70542400	Weak transcription	Fetal Brain Male	brain
7	chr16:70525600-70538200	Strong transcription	Fetal Thymus	thymus
8	chr16:70525800-70537000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:70526000-70539000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:70530000-70541200	Weak transcription	Fetal Heart	heart
13	chr16:70530600-70542400	Weak transcription	HMEC	breast
14	chr16:70530600-70545800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:70530800-70542200	Weak transcription	K562	blood
16	chr16:70531000-70541200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:70531000-70542400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:70531000-70542800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr16:70531200-70542200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:70531400-70543600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:70531600-70542000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:70531600-70542800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:70531800-70540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:70531800-70542400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:70531800-70542400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:70532000-70537000	Weak transcription	HepG2	liver
27	chr16:70532000-70540000	Weak transcription	Pancreas	Pancrea
28	chr16:70532000-70540600	Weak transcription	Psoas Muscle	Psoas
29	chr16:70532000-70540800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:70532000-70540800	Weak transcription	Esophagus	oesophagus
31	chr16:70532000-70541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:70532000-70541000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:70532000-70541000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:70532000-70541000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:70532000-70541200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:70532000-70542200	Weak transcription	HSMMtube	muscle
37	chr16:70532000-70542200	Weak transcription	HUVEC	blood vessel
38	chr16:70532000-70542200	Weak transcription	NHDF-Ad	bronchial
39	chr16:70532000-70542400	Weak transcription	Primary B cells from cord blood	blood
40	chr16:70532000-70542400	Weak transcription	Aorta	Aorta
41	chr16:70532000-70542400	Weak transcription	Fetal Lung	lung
42	chr16:70532000-70542800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:70532000-70543000	Weak transcription	Colonic Mucosa	Colon
44	chr16:70532000-70543000	Weak transcription	Small Intestine	intestine
45	chr16:70532000-70545600	Weak transcription	A549	lung
46	chr16:70532200-70540800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:70532600-70542200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:70533000-70538600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr16:70533000-70540600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr16:70533000-70540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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