Variant report

Variant	esv2087460
Chromosome Location	chr4:152023629-152023631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr4:152023552-152023891	K562	blood:	n/a	n/a
2	JUND	chr4:152023506-152023724	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:152023504-152023914	U87	brain:	n/a	n/a
4	POLR2A	chr4:152023423-152024355	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr4:152023165-152029250	K562	blood:	n/a	n/a
6	POLR2A	chr4:152023464-152029233	K562	blood:	n/a	n/a
7	POLR2A	chr4:152022389-152029763	K562	blood:	n/a	n/a
8	POLR2A	chr4:152023373-152023945	K562	blood:	n/a	n/a
9	POLR2A	chr4:152023620-152023881	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:152023356-152024062	HCT-116	colon:	n/a	n/a
11	POLR2A	chr4:152023363-152024516	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:152023584-152023905	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr4:152023474-152023919	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:152023542-152023936	A549	lung:	n/a	n/a
15	POLR2A	chr4:152023586-152023883	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:152019349-152025502	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:152023579-152029754	K562	blood:	n/a	n/a
18	POLR2A	chr4:152022863-152029688	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr4:152020280-152029909	K562	blood:	n/a	n/a
20	POLR2A	chr4:152023601-152025076	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:152022305-152023904	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:152023311-152024034	U87	brain:	n/a	n/a
23	POLR2A	chr4:152023323-152023866	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:152023628-152023877	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:152023317-152024350	U87	brain:	n/a	n/a
26	POLR2A	chr4:152023461-152024119	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:152023497-152023880	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr4:152023540-152025529	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:152023570-152023804	HCT-116	colon:	n/a	n/a
30	POLR2A	chr4:152023560-152024374	GM12892	blood:	n/a	n/a
31	POLR2A	chr4:152023178-152029861	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:152023603-152023869	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:152023087-152029198	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:152023394-152024212	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr4:152023303-152024001	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr4:152023504-152023901	U87	brain:	n/a	n/a
37	POLR2A	chr4:152023481-152029833	GM12891	blood:	n/a	n/a
38	POLR2A	chr4:152023072-152025251	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
2	chr4:151934961..151939391-chr4:152019005..152023866,18	MCF-7	breast:

No data

Variant related genes	Relation type
SNORD73A	TF binding region
ENSG00000198589	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs68077379	chr4:152023629-152023630	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201054822	chr4:152023630-152023631	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152020800-152023800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:152020800-152024000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr4:152021000-152023800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
4	chr4:152021000-152023800	Transcr. at gene 5' and 3'	A549	lung
5	chr4:152021000-152023800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr4:152021000-152024000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
7	chr4:152021200-152023800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr4:152021200-152024000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr4:152021200-152024000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:152021200-152024000	Transcr. at gene 5' and 3'	K562	blood
11	chr4:152021400-152024000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:152021400-152025200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:152021800-152023800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:152021800-152023800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr4:152021800-152024000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:152021800-152024000	Transcr. at gene 5' and 3'	HMEC	breast
17	chr4:152021800-152025200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr4:152021800-152026200	Weak transcription	Aorta	Aorta
19	chr4:152022000-152023800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:152022000-152023800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:152022000-152023800	Genic enhancers	Liver	Liver
22	chr4:152022000-152024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:152022000-152024400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr4:152022000-152024400	Weak transcription	Spleen	Spleen
25	chr4:152022000-152024600	Weak transcription	Stomach Mucosa	stomach
26	chr4:152022000-152026000	Weak transcription	Gastric	stomach
27	chr4:152022000-152026400	Weak transcription	Esophagus	oesophagus
28	chr4:152022200-152023800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:152022200-152023800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:152022200-152023800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:152022400-152023800	Genic enhancers	Primary B cells from cord blood	blood
32	chr4:152022400-152023800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:152022400-152023800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:152022400-152023800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:152022400-152023800	Transcr. at gene 5' and 3'	HepG2	liver
36	chr4:152022400-152024000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:152022400-152024400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:152022400-152024400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr4:152022400-152029800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr4:152022600-152023800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:152022600-152025600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr4:152022600-152028400	Strong transcription	Left Ventricle	heart
43	chr4:152022800-152023800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:152022800-152024000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:152022800-152024000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:152022800-152024000	Genic enhancers	Fetal Heart	heart
47	chr4:152022800-152024200	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:152022800-152025000	Strong transcription	Fetal Stomach	stomach
49	chr4:152022800-152025400	Weak transcription	Brain Angular Gyrus	brain
50	chr4:152022800-152026200	Strong transcription	NHDF-Ad	bronchial

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