Variant report

Variant	nsv103836
Chromosome Location	chr16:70694743-70694762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr16:70694744-70695124	HepG2	liver:	n/a	n/a
2	FOSL2	chr16:70694311-70695246	HepG2	liver:	n/a	chr16:70694655-70694664
3	JUND	chr16:70694760-70695140	A549	lung:	n/a	n/a
4	POLR2A	chr16:70694565-70694745	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70694225-70694749	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:70694268-70695175	K562	blood:	n/a	n/a
7	POLR2A	chr16:70694346-70698154	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:70694118-70695142	U87	brain:	n/a	n/a
9	POLR2A	chr16:70694562-70694883	HL-60	blood:	n/a	n/a
10	POLR2A	chr16:70693906-70695107	MCF-7	breast:	n/a	n/a
11	POLR2A	chr16:70694051-70700106	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:70694261-70694859	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr16:70694593-70696870	K562	blood:	n/a	n/a
14	POLR2A	chr16:70693989-70700431	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:70694097-70694882	ProgFib	skin:	n/a	n/a
16	POLR2A	chr16:70694363-70695177	NB4	blood:	n/a	n/a
17	POLR2A	chr16:70693984-70695148	U87	brain:	n/a	n/a
18	TEAD4	chr16:70694564-70694891	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
2	chr16:70693052..70694903-chr16:70718583..70720776,2	K562	blood:
3	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268927	TF binding region
ENSG00000132613	chromatin interactions
ENSG00000103043	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374846368	chr16:70694743-70694744	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs543482139	chr16:70694747-70694748	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs111796088	chr16:70694752-70694753	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70688200-70695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70688200-70695400	Weak transcription	Brain Germinal Matrix	brain
6	chr16:70688200-70695400	Weak transcription	Thymus	Thymus
7	chr16:70688200-70695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:70688200-70695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:70688200-70696000	Strong transcription	Fetal Intestine Small	intestine
10	chr16:70688200-70696200	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:70688400-70695000	Weak transcription	Fetal Heart	heart
18	chr16:70688400-70695000	Weak transcription	Ovary	ovary
19	chr16:70688400-70695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:70688400-70695400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:70688400-70695600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr16:70688400-70695600	Weak transcription	Placenta	Placenta
23	chr16:70688400-70695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70688400-70695800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:70688400-70696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:70688400-70696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:70688400-70696000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr16:70688400-70696000	Weak transcription	Osteobl	bone
29	chr16:70688400-70696200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
31	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
34	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
35	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
36	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:70688400-70697400	Weak transcription	Dnd41	blood
39	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
40	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
42	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
43	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
44	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
45	chr16:70688600-70695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:70688600-70695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:70688600-70695400	Weak transcription	Fetal Brain Female	brain
48	chr16:70688600-70695400	Weak transcription	HSMM	muscle
49	chr16:70688600-70695400	Weak transcription	NHLF	lung
50	chr16:70688600-70695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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