Variant report

Variant	esv3489793
Chromosome Location	chr1:209844788-209844960
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	NFIC	chr1:209843434-209845013	ECC-1	luminal epithelium:	n/a	chr1:209844255-209844272
2	SETDB1	chr1:209844465-209844979	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209844097..209846070-chr1:209847217..209849817,2	K562	blood:
2	chr1:209839113..209843084-chr1:209844641..209848547,5	K562	blood:

Variant related genes	Relation type
G0S2	TF binding region
ENSG00000227591	chromatin interactions
ENSG00000123689	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182482921	chr1:209844830-209844831	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187327977	chr1:209844843-209844844	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs59714866	chr1:209844850-209844851	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4844487	chr1:209844892-209844893	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190979949	chr1:209844917-209844918	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371698497	chr1:209844936-209844937	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563268710	chr1:209844946-209844947	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
2	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
3	chr1:209841600-209846200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209842800-209845600	Enhancers	Psoas Muscle	Psoas
5	chr1:209843000-209845200	Weak transcription	K562	blood
6	chr1:209843000-209845800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:209843400-209844800	Enhancers	Fetal Heart	heart
8	chr1:209843400-209848200	Enhancers	HMEC	breast
9	chr1:209843600-209845200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209843600-209845200	Enhancers	NHEK	skin
11	chr1:209843600-209845400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:209843800-209844800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr1:209843800-209845200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:209843800-209846400	Enhancers	Liver	Liver
15	chr1:209843800-209848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:209844000-209844800	Flanking Active TSS	Hela-S3	cervix
17	chr1:209844000-209845400	Enhancers	Left Ventricle	heart
18	chr1:209844000-209848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:209844200-209844800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:209844200-209845000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:209844200-209848200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:209844400-209846400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:209844400-209846400	Weak transcription	Pancreas	Pancrea
24	chr1:209844400-209847800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:209844600-209846200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:209844600-209846200	Weak transcription	Small Intestine	intestine
27	chr1:209844600-209846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:209844600-209846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:209844600-209846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:209844600-209846400	Enhancers	Adipose Nuclei	Adipose
31	chr1:209844600-209846400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:209844600-209847400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:209844800-209845200	Weak transcription	Fetal Heart	heart
34	chr1:209844800-209846400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:209844800-209847200	Enhancers	Hela-S3	cervix

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