Variant report

Variant	esv3379520
Chromosome Location	chr16:75284006-75284425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:75284275-75285442	HepG2	liver:	n/a	chr16:75284384-75284400 chr16:75284817-75284833
2	CEBPB	chr16:75284270-75284648	Hela-S3	cervix:	n/a	n/a
3	CHD1	chr16:75282576-75286469	IMR90	lung:	n/a	n/a
4	CHD2	chr16:75283927-75284813	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:75284200-75284350	GM06990	blood:	n/a	n/a
6	CTCF	chr16:75284380-75284530	NHEK	skin:	n/a	n/a
7	EBF1	chr16:75284391-75284416	GM12878	blood:	n/a	n/a
8	FOSL2	chr16:75284200-75286153	HepG2	liver:	n/a	n/a
9	GABPA	chr16:75284423-75284836	H1-hESC	embryonic stem cell:	n/a	n/a
10	GTF2F1	chr16:75284368-75284524	H1-hESC	embryonic stem cell:	n/a	n/a
11	HA-E2F1	chr16:75284390-75285308	MCF-7	breast:	n/a	chr16:75284819-75284828 chr16:75285266-75285276
12	HEY1	chr16:75284284-75285642	HepG2	liver:	n/a	chr16:75284860-75284875 chr16:75285485-75285500 chr16:75285479-75285494 chr16:75285401-75285416 chr16:75285538-75285553 chr16:75285474-75285489 chr16:75285081-75285096 chr16:75285463-75285478 chr16:75285454-75285469
13	MAX	chr16:75283608-75286774	HepG2	liver:	n/a	n/a
14	MAX	chr16:75284267-75284276	HepG2	liver:	n/a	n/a
15	MAX	chr16:75283999-75284547	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr16:75281437-75286746	IMR90	lung:	n/a	chr16:75282710-75282719
17	MAZ	chr16:75284233-75285982	HepG2	liver:	n/a	n/a
18	MAZ	chr16:75283976-75285892	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr16:75284134-75284483	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr16:75284233-75286184	HepG2	liver:	n/a	n/a
21	MXI1	chr16:75282706-75286188	IMR90	lung:	n/a	n/a
22	MYBL2	chr16:75283823-75286515	HepG2	liver:	n/a	n/a
23	MYBL2	chr16:75284168-75285186	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:75282611-75286449	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr16:75283910-75284115	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:75283802-75284142	A549	lung:	n/a	n/a
27	POLR2A	chr16:75284192-75284442	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr16:75283441-75286634	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr16:75283830-75285939	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr16:75283555-75284138	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr16:75283885-75285933	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
35	POLR2A	chr16:75283934-75284159	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
37	POLR2A	chr16:75284307-75286108	A549	lung:	n/a	n/a
38	POLR2A	chr16:75283930-75284667	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:75282692-75286211	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr16:75284362-75284371	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:75282035-75284158	A549	lung:	n/a	n/a
42	POLR2A	chr16:75284166-75286363	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:75284340-75285685	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr16:75283673-75284152	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:75284195-75284652	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:75284236-75285338	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:75283892-75285763	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr16:75284308-75284494	K562	blood:	n/a	n/a
50	POLR2A	chr16:75284147-75285653	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
2	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
3	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
4	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
5	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
6	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
7	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
8	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
9	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
10	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
11	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
12	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:

No data

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000166848	chromatin interactions
ENSG00000168928	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000261783	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000252101	chromatin interactions
ENSG00000050820	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563310194	chr16:75284050-75284051	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs529390789	chr16:75284090-75284091	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs549167517	chr16:75284106-75284107	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs189179927	chr16:75284120-75284121	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs138374126	chr16:75284194-75284195	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs551683498	chr16:75284221-75284222	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs376665079	chr16:75284226-75284227	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs11645408	chr16:75284232-75284233	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574263818	chr16:75284248-75284249	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs542910242	chr16:75284271-75284272	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs537323503	chr16:75284273-75284274	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs556815904	chr16:75284275-75284276	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs557538073	chr16:75284286-75284287	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs574113875	chr16:75284300-75284301	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs535580044	chr16:75284309-75284310	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs555168228	chr16:75284363-75284364	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs142964381	chr16:75284386-75284387	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs541012465	chr16:75284397-75284398	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs368337230	chr16:75284403-75284404	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs557750964	chr16:75284415-75284416	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75277200-75284200	Enhancers	Spleen	Spleen
2	chr16:75277600-75284400	Enhancers	Fetal Lung	lung
3	chr16:75277800-75284200	Enhancers	Liver	Liver
4	chr16:75278200-75284800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr16:75279000-75284200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:75279000-75284600	Enhancers	Fetal Heart	heart
7	chr16:75280000-75284400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:75280000-75284600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:75280800-75284400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75281200-75284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:75281400-75284600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr16:75281800-75284200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:75281800-75284200	Enhancers	Small Intestine	intestine
14	chr16:75282000-75284200	Flanking Active TSS	Osteobl	bone
15	chr16:75282200-75284200	Flanking Active TSS	Stomach Mucosa	stomach
16	chr16:75282200-75284400	Flanking Active TSS	HMEC	breast
17	chr16:75282200-75284600	Flanking Active TSS	Colonic Mucosa	Colon
18	chr16:75282200-75284800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr16:75282400-75284200	Enhancers	Fetal Brain Male	brain
20	chr16:75282400-75284400	Weak transcription	K562	blood
21	chr16:75282600-75284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:75282600-75284200	Flanking Active TSS	Gastric	stomach
23	chr16:75282800-75284200	Flanking Active TSS	NH-A	brain
24	chr16:75283000-75284400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr16:75283200-75284200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr16:75283200-75284200	Flanking Active TSS	Hela-S3	cervix
27	chr16:75283200-75284800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr16:75283200-75285000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr16:75283200-75285400	Active TSS	HSMMtube	muscle
30	chr16:75283400-75284200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:75283400-75284200	Flanking Active TSS	A549	lung
32	chr16:75283400-75284200	Flanking Active TSS	NHDF-Ad	bronchial
33	chr16:75283400-75284600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:75283400-75284600	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr16:75283600-75284200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:75283600-75284200	Enhancers	Brain Germinal Matrix	brain
37	chr16:75283600-75284200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr16:75283600-75284400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:75283600-75284400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr16:75283600-75284600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:75283600-75284600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr16:75283600-75284600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr16:75283600-75285400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:75283600-75286200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr16:75283800-75284200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr16:75283800-75284200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:75283800-75284200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:75283800-75284200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr16:75283800-75284200	Flanking Active TSS	Left Ventricle	heart
50	chr16:75283800-75284200	Flanking Active TSS	Psoas Muscle	Psoas

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