Variant report

Variant	esv3421246
Chromosome Location	chr18:44772654-44775452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116999184	chr18:44772655-44772656	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs142139852	chr18:44772678-44772679	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs574154664	chr18:44772684-44772685	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs536454827	chr18:44772712-44772713	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs151163865	chr18:44772820-44772821	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559219479	chr18:44772851-44772852	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576557959	chr18:44773004-44773005	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs111245748	chr18:44773067-44773068	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs35717325	chr18:44773068-44773069	Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs192360549	chr18:44773209-44773210	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577231668	chr18:44773262-44773263	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs539812512	chr18:44773265-44773266	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs9956387	chr18:44773382-44773383	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs568565349	chr18:44773550-44773551	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569094423	chr18:44773552-44773553	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200380139	chr18:44773700-44773701	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs370190668	chr18:44773806-44773807	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs529419494	chr18:44773914-44773915	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs548798079	chr18:44773929-44773930	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs562752864	chr18:44773985-44773986	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs531383391	chr18:44774009-44774010	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551688547	chr18:44774068-44774069	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141162442	chr18:44774076-44774077	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527709393	chr18:44774205-44774206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112028746	chr18:44774243-44774244	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547771874	chr18:44774248-44774249	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567654123	chr18:44774280-44774281	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536799808	chr18:44774351-44774352	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556360473	chr18:44774437-44774438	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570262618	chr18:44774466-44774467	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57216407	chr18:44774515-44774516	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184619951	chr18:44774555-44774556	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111300606	chr18:44774674-44774675	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538819920	chr18:44774688-44774689	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558842471	chr18:44774715-44774716	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572355272	chr18:44774813-44774814	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188936589	chr18:44774842-44774843	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373929593	chr18:44774853-44774854	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539853928	chr18:44774971-44774972	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561108578	chr18:44775019-44775020	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202063106	chr18:44775028-44775029	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553394854	chr18:44775093-44775094	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573556023	chr18:44775112-44775113	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542738210	chr18:44775117-44775118	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376365161	chr18:44775124-44775125	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562428417	chr18:44775173-44775174	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531550684	chr18:44775183-44775184	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371202595	chr18:44775210-44775211	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549741504	chr18:44775219-44775220	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574685057	chr18:44775244-44775245	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44769200-44772800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
2	chr18:44772200-44772800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr18:44772200-44773000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr18:44772400-44772800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr18:44772600-44772800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr18:44772600-44772800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr18:44772600-44772800	Bivalent Enhancer	Liver	Liver
11	chr18:44772600-44773000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr18:44772600-44774000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:44772600-44774200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr18:44772800-44773000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr18:44772800-44773200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr18:44772800-44773200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:44772800-44773800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr18:44772800-44774400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr18:44772800-44774400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr18:44773000-44773200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr18:44773000-44773200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:44773000-44773200	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr18:44773000-44773600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:44773000-44774000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:44773000-44774000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:44773000-44774400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:44773200-44773400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr18:44773200-44773400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr18:44773200-44773400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr18:44773200-44773400	Bivalent Enhancer	Fetal Brain Male	brain
38	chr18:44773200-44773400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr18:44773200-44773400	Bivalent Enhancer	Left Ventricle	heart
40	chr18:44773200-44773400	Bivalent Enhancer	Small Intestine	intestine
41	chr18:44773200-44773400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr18:44773200-44773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:44773200-44773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:44773200-44773600	Bivalent/Poised TSS	Right Ventricle	heart
45	chr18:44773200-44774200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr18:44773200-44774200	Bivalent Enhancer	Ovary	ovary
47	chr18:44773200-44774400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:44773200-44774400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr18:44773200-44774400	Bivalent Enhancer	Spleen	Spleen
50	chr18:44773200-44774800	Bivalent Enhancer	Lung	lung

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