Variant report

Variant	esv3412635
Chromosome Location	chr1:153915772-153915913
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	POLR2A	chr1:153915807-153915847	K562	blood:	n/a	n/a
2	POLR2A	chr1:153915072-153915940	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:153915592-153915815	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:153912970-153915800	K562	blood:	n/a	n/a
5	POLR2A	chr1:153913011-153915862	K562	blood:	n/a	n/a
6	POLR2A	chr1:153915425-153915850	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:153915252-153915853	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:153915069-153915842	K562	blood:	n/a	n/a
9	POLR2A	chr1:153913791-153915938	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:153914086-153915919	K562	blood:	n/a	n/a
11	POLR2A	chr1:153915347-153915893	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:153915140-153915888	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:

Variant related genes	Relation type
DENND4B	TF binding region
ENSG00000143549	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs946683	chr1:153915792-153915793	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181785516	chr1:153915822-153915823	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535974950	chr1:153915828-153915829	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554206791	chr1:153915839-153915840	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs12044455	chr1:153915881-153915882	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153896800-153917600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:153897000-153916400	Weak transcription	Fetal Brain Male	brain
3	chr1:153897400-153916600	Weak transcription	Fetal Heart	heart
4	chr1:153901000-153916400	Strong transcription	Fetal Thymus	thymus
5	chr1:153901400-153915800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr1:153901400-153915800	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:153901400-153916400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:153901400-153916400	Strong transcription	Brain Germinal Matrix	brain
9	chr1:153901400-153916400	Strong transcription	Fetal Intestine Large	intestine
10	chr1:153901400-153916600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:153901400-153916600	Strong transcription	Fetal Stomach	stomach
12	chr1:153901400-153916800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:153901400-153916800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:153901400-153917200	Strong transcription	Fetal Intestine Small	intestine
15	chr1:153901600-153915800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:153901600-153915800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr1:153901600-153916200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:153901600-153916200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:153901600-153916600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:153901600-153916600	Strong transcription	Thymus	Thymus
21	chr1:153901600-153916800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:153901600-153916800	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:153901600-153917000	Strong transcription	Fetal Brain Female	brain
24	chr1:153901800-153916400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:153901800-153917000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:153902000-153915800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:153902000-153915800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr1:153902000-153916400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:153902000-153916600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:153902000-153916600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:153902000-153916600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:153902000-153917000	Strong transcription	NHLF	lung
33	chr1:153902200-153916600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:153902400-153916400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:153902400-153916400	Strong transcription	Dnd41	blood
36	chr1:153902400-153916600	Strong transcription	Ovary	ovary
37	chr1:153902400-153916800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:153902600-153915800	Strong transcription	Rectal Smooth Muscle	rectum
39	chr1:153902600-153916600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:153902800-153916400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:153902800-153916600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:153902800-153916600	Strong transcription	A549	lung
43	chr1:153903000-153917000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:153903800-153916000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:153904200-153915800	Strong transcription	Brain Substantia Nigra	brain
46	chr1:153904400-153915800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr1:153904600-153916400	Strong transcription	Brain Angular Gyrus	brain
48	chr1:153904800-153916000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:153904800-153917000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:153905000-153915800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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