Variant report

Variant	esv3368803
Chromosome Location	chr18:7082826-7083017
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	chr18:7075127..7076974-chr18:7081757..7084393,2	K562	blood:

Variant related genes	Relation type
ENSG00000264475	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529559081	chr18:7082874-7082875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147530209	chr18:7082875-7082876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs8090138	chr18:7082908-7082909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190326573	chr18:7082909-7082910	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140238173	chr18:7082916-7082917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571714158	chr18:7082958-7082959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182563972	chr18:7082963-7082964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550765883	chr18:7082991-7082992	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs386800821	chr18:7083004-7083005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs70964124	chr18:7083006-7083007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202224438	chr18:7083007-7083008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566762855	chr18:7083011-7083012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144190360	chr18:7083014-7083015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7065000-7083800	Weak transcription	HMEC	breast
2	chr18:7069800-7089400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:7069800-7090800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:7070000-7084400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:7070000-7087400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:7073400-7083000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:7073800-7084400	Weak transcription	Fetal Brain Female	brain
8	chr18:7079800-7090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:7080000-7089800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:7080000-7090800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr18:7080200-7084200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:7080200-7089200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:7080400-7083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:7080400-7088000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:7080400-7096800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:7080600-7084200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:7080600-7084600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:7080600-7087800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:7080800-7084000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:7080800-7090400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:7081400-7089000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7082400-7083000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:7082400-7084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:7082600-7083000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr18:7082800-7083000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr18:7082800-7083000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:7082800-7083000	Enhancers	Fetal Brain Male	brain
28	chr18:7082800-7083000	Enhancers	Fetal Intestine Small	intestine
29	chr18:7082800-7083000	Enhancers	Hela-S3	cervix
30	chr18:7082800-7083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:7082800-7084200	Weak transcription	Fetal Kidney	kidney
32	chr18:7082800-7084200	Weak transcription	Osteobl	bone
33	chr18:7083000-7083200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:7083000-7084000	Weak transcription	Fetal Brain Male	brain
35	chr18:7083000-7084200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:7083000-7084200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:7083000-7084200	Weak transcription	NH-A	brain
38	chr18:7083000-7084800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:7083000-7087400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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