Variant report

Variant	esv3409143
Chromosome Location	chr1:160473211-160473592
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	GATA2	chr1:160473036-160473305	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr1:160473090-160473348	T-47D	breast:	n/a	n/a
3	MAFF	chr1:160472904-160473236	HepG2	liver:	n/a	chr1:160473071-160473089
4	MAFK	chr1:160472906-160473238	HepG2	liver:	n/a	chr1:160473072-160473087
5	MAFK	chr1:160472916-160473237	HepG2	liver:	n/a	chr1:160473072-160473087

Variant related genes	Relation type
ENSG00000223009	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181006863	chr1:160473221-160473222	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112696414	chr1:160473226-160473227	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185071832	chr1:160473228-160473229	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200304616	chr1:160473253-160473254	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs6700440	chr1:160473270-160473271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17385407	chr1:160473286-160473287	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562996628	chr1:160473295-160473296	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530765041	chr1:160473319-160473320	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79433184	chr1:160473324-160473325	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541286539	chr1:160473345-160473346	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34905517	chr1:160473351-160473352	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12048891	chr1:160473356-160473357	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139785363	chr1:160473365-160473366	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370725865	chr1:160473373-160473374	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543863446	chr1:160473428-160473429	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536244171	chr1:160473482-160473483	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546627725	chr1:160473510-160473511	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563785731	chr1:160473518-160473519	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529332442	chr1:160473522-160473523	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6700764	chr1:160473563-160473564	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59621006	chr1:160473587-160473588	Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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
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
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
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
Ewing''s sarcoma	21437220	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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160466200-160474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:160468000-160477000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr1:160470800-160475400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:160471200-160475200	Weak transcription	Placenta	Placenta
5	chr1:160471400-160474600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:160471600-160474200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:160471600-160474600	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr1:160471600-160474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:160471800-160473800	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr1:160471800-160474600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:160472000-160475200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:160472400-160474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:160472600-160473400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:160472600-160473800	Enhancers	Thymus	Thymus
15	chr1:160472800-160474600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:160472800-160474800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:160472800-160474800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:160473000-160473400	Weak transcription	Primary T cells from cord blood	blood
19	chr1:160473000-160473800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:160473000-160473800	Enhancers	Fetal Thymus	thymus
21	chr1:160473000-160474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:160473200-160473800	Weak transcription	Primary B cells from cord blood	blood
23	chr1:160473200-160474800	Enhancers	Stomach Mucosa	stomach
24	chr1:160473400-160474400	Enhancers	Primary T cells from cord blood	blood
25	chr1:160473400-160475000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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