Variant report

Variant	esv3387970
Chromosome Location	chr1:165371879-165372454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165365790..165368850-chr1:165370089..165372761,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188237854	chr1:165371881-165371882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116759231	chr1:165371882-165371883	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530458236	chr1:165371907-165371908	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547000076	chr1:165371911-165371912	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193079354	chr1:165371912-165371913	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183213953	chr1:165371976-165371977	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558970656	chr1:165371978-165371979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569256947	chr1:165371987-165371988	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537647983	chr1:165372007-165372008	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554384281	chr1:165372044-165372045	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574378198	chr1:165372047-165372048	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186973064	chr1:165372048-165372049	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540166000	chr1:165372059-165372060	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536235631	chr1:165372073-165372074	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559371380	chr1:165372105-165372106	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553673736	chr1:165372114-165372115	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191312428	chr1:165372127-165372128	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35765135	chr1:165372140-165372141	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3767332	chr1:165372164-165372165	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs58655350	chr1:165372175-165372176	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562553948	chr1:165372183-165372184	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531349764	chr1:165372184-165372185	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76078771	chr1:165372187-165372188	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183462669	chr1:165372202-165372203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557490180	chr1:165372256-165372257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201620097	chr1:165372294-165372295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189401483	chr1:165372318-165372319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193030271	chr1:165372324-165372325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567065549	chr1:165372331-165372332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185614206	chr1:165372341-165372342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3767333	chr1:165372404-165372405	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs569325137	chr1:165372408-165372409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165362600-165378200	Weak transcription	Psoas Muscle	Psoas
2	chr1:165362800-165392200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:165363600-165378400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:165367800-165378600	Weak transcription	Fetal Lung	lung
5	chr1:165368200-165372000	Strong transcription	Fetal Muscle Leg	muscle
6	chr1:165368400-165372600	Weak transcription	Spleen	Spleen
7	chr1:165368400-165376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:165370400-165380800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:165370600-165373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:165370800-165372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:165370800-165373000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:165370800-165373200	Weak transcription	Stomach Mucosa	stomach
13	chr1:165371800-165372000	Enhancers	Pancreas	Pancrea
14	chr1:165371800-165372000	Bivalent/Poised TSS	NHDF-Ad	bronchial
15	chr1:165371800-165372200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:165371800-165372200	ZNF genes & repeats	Lung	lung
17	chr1:165371800-165372200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:165372000-165372200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:165372000-165373400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:165372200-165373000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:165372200-165373000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:165372200-165373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:165372200-165373400	Weak transcription	Lung	lung

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