Variant report

Variant	esv3382125
Chromosome Location	chr1:9536565-9539463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9501654..9503304-chr1:9535794..9537313,2	MCF-7	breast:
2	chr1:9536052..9538916-chr1:9541812..9545284,3	MCF-7	breast:
3	chr1:9350330..9352545-chr1:9535232..9537394,2	MCF-7	breast:
4	chr1:9514768..9516687-chr1:9535496..9537861,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76849651	chr1:9536594-9536595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542057935	chr1:9536626-9536627	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs111909689	chr1:9536643-9536644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs190264474	chr1:9536739-9536740	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs575189702	chr1:9536759-9536760	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs545708882	chr1:9536787-9536788	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181437993	chr1:9536791-9536792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34704127	chr1:9536793-9536794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs76632615	chr1:9536813-9536814	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs35318123	chr1:9536831-9536832	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs80299706	chr1:9536896-9536897	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs568982614	chr1:9536915-9536916	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs377369758	chr1:9537029-9537030	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs201810845	chr1:9537072-9537073	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs34675208	chr1:9537086-9537087	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs530115406	chr1:9537252-9537253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548797604	chr1:9537276-9537277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373449200	chr1:9537307-9537308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570167255	chr1:9537351-9537352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531095532	chr1:9537352-9537353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74051508	chr1:9537403-9537404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139750982	chr1:9537406-9537407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536335692	chr1:9537407-9537408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571114967	chr1:9537439-9537440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139726254	chr1:9537513-9537514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370278033	chr1:9537538-9537539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552692527	chr1:9537606-9537607	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs144393128	chr1:9537663-9537664	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535186849	chr1:9537671-9537672	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548151958	chr1:9537696-9537697	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs556983990	chr1:9537718-9537719	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554829636	chr1:9537719-9537720	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575118630	chr1:9537744-9537745	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190400598	chr1:9537745-9537746	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150654206	chr1:9537762-9537763	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572797503	chr1:9537763-9537764	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541443703	chr1:9537775-9537776	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61784998	chr1:9537790-9537791	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199622877	chr1:9537800-9537801	Enhancers ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181200678	chr1:9537829-9537830	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185420201	chr1:9537830-9537831	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563723584	chr1:9537836-9537837	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531136210	chr1:9537837-9537838	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201867330	chr1:9537838-9537839	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552797193	chr1:9537855-9537856	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549475262	chr1:9537859-9537860	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201738715	chr1:9537900-9537901	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190668276	chr1:9537930-9537931	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546612323	chr1:9537934-9537935	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs184130619	chr1:9537939-9537940	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17621639	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164919	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9526000-9555200	Weak transcription	Right Atrium	heart
2	chr1:9528800-9536800	Weak transcription	Pancreas	Pancrea
3	chr1:9533600-9537800	Weak transcription	Fetal Lung	lung
4	chr1:9533600-9540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:9533800-9536600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:9533800-9536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:9533800-9536800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:9533800-9536800	Weak transcription	A549	lung
9	chr1:9533800-9536800	Weak transcription	NHDF-Ad	bronchial
10	chr1:9534000-9536800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:9534000-9536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:9534000-9536800	Weak transcription	Hela-S3	cervix
13	chr1:9534200-9536600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:9534200-9536800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:9535200-9537800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:9535200-9538200	Enhancers	HMEC	breast
17	chr1:9535600-9536800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:9535800-9538000	Enhancers	NHEK	skin
19	chr1:9536000-9537200	Weak transcription	Esophagus	oesophagus
20	chr1:9536000-9538200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:9536600-9536800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:9536600-9537200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:9536600-9538000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:9536800-9537000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:9536800-9537000	Enhancers	Pancreas	Pancrea
26	chr1:9536800-9537000	Enhancers	NH-A	brain
27	chr1:9536800-9537200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:9536800-9537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:9536800-9537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:9536800-9537400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:9536800-9537600	Enhancers	Fetal Intestine Small	intestine
32	chr1:9536800-9537600	Enhancers	A549	lung
33	chr1:9536800-9537600	Enhancers	GM12878-XiMat	blood
34	chr1:9536800-9537800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:9536800-9537800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:9536800-9537800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:9536800-9538000	Enhancers	Hela-S3	cervix
38	chr1:9536800-9538000	Enhancers	NHDF-Ad	bronchial
39	chr1:9536800-9538800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:9537000-9537800	Weak transcription	Pancreas	Pancrea
41	chr1:9537200-9537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:9537200-9537400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:9537200-9537400	Weak transcription	Fetal Kidney	kidney
44	chr1:9537200-9537600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:9537200-9537600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:9537200-9537800	Enhancers	Esophagus	oesophagus
47	chr1:9537200-9537800	Enhancers	Fetal Intestine Large	intestine
48	chr1:9537600-9537800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:9537600-9538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:9537600-9538400	ZNF genes & repeats	Fetal Kidney	kidney

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