Variant report

Variant	esv3416241
Chromosome Location	chr18:9555800-9556518
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	POLR2A	chr18:9556040-9556046	K562	blood:	n/a	n/a
2	POLR2A	chr18:9555073-9555833	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9550795..9553534-chr18:9556478..9558367,2	K562	blood:
2	chr18:9544173..9546289-chr18:9553833..9556141,2	MCF-7	breast:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536410952	chr18:9555805-9555806	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142887915	chr18:9555825-9555826	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79248520	chr18:9555834-9555835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147418575	chr18:9555848-9555849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576039386	chr18:9555855-9555856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544771847	chr18:9555857-9555858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202221664	chr18:9555860-9555861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386801044	chr18:9555861-9555862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56161617	chr18:9555862-9555863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533434026	chr18:9555863-9555864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193103577	chr18:9555867-9555868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566840879	chr18:9555869-9555870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528003331	chr18:9555870-9555871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549644305	chr18:9555871-9555872	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184763006	chr18:9555872-9555873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189136203	chr18:9555873-9555874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556313917	chr18:9555884-9555885	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568628321	chr18:9555892-9555893	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201957757	chr18:9555901-9555902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376021191	chr18:9555903-9555904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529455962	chr18:9555905-9555906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572792125	chr18:9555907-9555908	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540198813	chr18:9555908-9555909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181513944	chr18:9555909-9555910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573934790	chr18:9555910-9555911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544438170	chr18:9555911-9555912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370523840	chr18:9555914-9555915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562636403	chr18:9555916-9555917	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533497736	chr18:9555917-9555918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368609348	chr18:9555920-9555921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560327653	chr18:9555927-9555928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150645951	chr18:9555930-9555931	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66751485	chr18:9555931-9555932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186014852	chr18:9555935-9555936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189734316	chr18:9555936-9555937	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551540860	chr18:9555937-9555938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539195824	chr18:9555938-9555939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557823470	chr18:9555942-9555943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9956160	chr18:9555945-9555946	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145809984	chr18:9555946-9555947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368443606	chr18:9555947-9555948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573997825	chr18:9555948-9555949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181336003	chr18:9555950-9555951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577906925	chr18:9555951-9555952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140748247	chr18:9555957-9555958	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534154375	chr18:9555960-9555961	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185962446	chr18:9555961-9555962	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9945093	chr18:9555962-9555963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560933565	chr18:9555964-9555965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372094910	chr18:9555991-9555992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:9544000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
4	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:9544200-9563600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:9544600-9561600	Strong transcription	Stomach Smooth Muscle	stomach
7	chr18:9544600-9563600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:9544600-9563600	Strong transcription	Brain Cingulate Gyrus	brain
9	chr18:9544600-9564200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:9544600-9564200	Strong transcription	Placenta	Placenta
11	chr18:9544800-9556800	Strong transcription	HMEC	breast
12	chr18:9544800-9557000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:9544800-9562000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:9544800-9564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:9544800-9565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
18	chr18:9545000-9557000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:9545000-9557200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:9545000-9562600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:9545000-9563800	Strong transcription	Osteobl	bone
22	chr18:9545000-9564200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:9545000-9564200	Strong transcription	Adipose Nuclei	Adipose
24	chr18:9545000-9564400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:9545200-9560400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:9545200-9561400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:9545200-9561600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:9545200-9563400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr18:9545400-9560000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:9545400-9564000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:9545800-9556200	Strong transcription	HepG2	liver
33	chr18:9545800-9563600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr18:9545800-9564200	Strong transcription	Fetal Thymus	thymus
35	chr18:9545800-9565000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:9545800-9570200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr18:9545800-9595200	Strong transcription	Dnd41	blood
39	chr18:9546000-9557200	Strong transcription	NHEK	skin
40	chr18:9546000-9563800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr18:9546200-9557600	Strong transcription	HUVEC	blood vessel
42	chr18:9546200-9557800	Strong transcription	Brain Substantia Nigra	brain
43	chr18:9546200-9559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:9546200-9560200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:9546200-9564200	Strong transcription	Left Ventricle	heart
46	chr18:9546400-9560200	Strong transcription	Brain Angular Gyrus	brain
47	chr18:9546400-9563600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:9547000-9559600	Strong transcription	K562	blood
49	chr18:9547000-9564000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:9547200-9559600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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