Variant report

Variant	esv32777
Chromosome Location	chr18:29737074-29738017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29737699..29739046-chr18:30132133..30133008,6	MCF-7	breast:
2	chr18:29737738..29738425-chr18:30129431..30129978,2	MCF-7	breast:
3	chr18:29737678..29740541-chr18:29744932..29747295,2	MCF-7	breast:
4	chr18:29737731..29738647-chr18:30131030..30131759,2	MCF-7	breast:
5	chr18:29737713..29738256-chr18:30129386..30129926,2	MCF-7	breast:
6	chr18:29737793..29738341-chr18:30132122..30132837,2	MCF-7	breast:
7	chr18:29737720..29738653-chr18:30132086..30132779,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17735506	chr18:29737077-29737078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190083813	chr18:29737116-29737117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144199035	chr18:29737132-29737133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35591138	chr18:29737158-29737159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551950753	chr18:29737180-29737181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570285092	chr18:29737221-29737222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545375474	chr18:29737277-29737278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537335920	chr18:29737377-29737378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146102527	chr18:29737428-29737429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540429253	chr18:29737438-29737439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113645423	chr18:29737652-29737653	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534654936	chr18:29737672-29737673	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140064239	chr18:29737675-29737676	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs578041371	chr18:29737694-29737695	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181155834	chr18:29737751-29737752	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569660373	chr18:29737803-29737804	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575644814	chr18:29737812-29737813	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143663405	chr18:29737849-29737850	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561136195	chr18:29738006-29738007	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29730400-29738000	Weak transcription	Fetal Lung	lung
2	chr18:29736200-29738200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr18:29736400-29738200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr18:29736600-29738000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:29736800-29737400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:29736800-29738200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr18:29737400-29737600	Enhancers	Hela-S3	cervix
8	chr18:29737400-29737800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:29737400-29737800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:29737400-29738000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:29737600-29738000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr18:29737600-29738000	Flanking Active TSS	Hela-S3	cervix
13	chr18:29737600-29738200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr18:29737600-29738200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:29737600-29738600	Bivalent Enhancer	Dnd41	blood
16	chr18:29737800-29738000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr18:29737800-29738000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr18:29737800-29738000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:29737800-29738000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr18:29737800-29738200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:29737800-29738200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:29737800-29738200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr18:29737800-29738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:29737800-29738200	Enhancers	Colon Smooth Muscle	Colon
25	chr18:29737800-29738200	Enhancers	Fetal Brain Female	brain
26	chr18:29737800-29738200	Enhancers	Fetal Intestine Small	intestine
27	chr18:29737800-29738400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr18:29737800-29738400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr18:29737800-29738600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr18:29737800-29738600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr18:29737800-29738600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:29737800-29738600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr18:29737800-29738600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:29738000-29738200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:29738000-29738200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:29738000-29738200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr18:29738000-29738200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr18:29738000-29738200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr18:29738000-29738200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:29738000-29738200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr18:29738000-29738200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:29738000-29738200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:29738000-29738200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:29738000-29738200	Enhancers	Adipose Nuclei	Adipose
45	chr18:29738000-29738200	Enhancers	Liver	Liver
46	chr18:29738000-29738200	Enhancers	Brain Anterior Caudate	brain
47	chr18:29738000-29738200	Enhancers	Brain Hippocampus Middle	brain
48	chr18:29738000-29738200	Enhancers	Brain Substantia Nigra	brain
49	chr18:29738000-29738200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr18:29738000-29738200	Enhancers	Fetal Brain Male	brain

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