Variant report

Variant	esv3373435
Chromosome Location	chr18:9620977-9623525
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	chr18:9621150-9621215	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr18:9623356-9623547	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
2	chr18:9612628..9617891-chr18:9619605..9623342,5	MCF-7	breast:

Variant related genes	Relation type
RNU6-903P	TF binding region
ENSG00000263627	chromatin interactions
ENSG00000154845	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566098486	chr18:9621027-9621028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527604674	chr18:9621028-9621029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141612580	chr18:9621034-9621035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544270184	chr18:9621070-9621071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548845723	chr18:9621075-9621076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567489169	chr18:9621087-9621088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537638286	chr18:9621122-9621123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117049132	chr18:9621207-9621208	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs192956609	chr18:9621212-9621213	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539079450	chr18:9621259-9621260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554221897	chr18:9621299-9621300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs1787166	chr18:9621305-9621306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536972915	chr18:9621317-9621318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555285823	chr18:9621346-9621347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185217071	chr18:9621394-9621395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543659253	chr18:9621404-9621405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565437610	chr18:9621435-9621436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577681421	chr18:9621442-9621443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377133930	chr18:9621447-9621448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544677681	chr18:9621457-9621458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116423097	chr18:9621462-9621463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527278468	chr18:9621463-9621464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548909486	chr18:9621475-9621476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561025168	chr18:9621479-9621480	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189753383	chr18:9621486-9621487	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549716722	chr18:9621535-9621536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs10672904	chr18:9621586-9621587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs386387028	chr18:9621593-9621594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs397756829	chr18:9621599-9621600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200008872	chr18:9621600-9621601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1787165	chr18:9621606-9621607	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs2846617	chr18:9621616-9621617	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539155922	chr18:9621710-9621711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140381795	chr18:9621715-9621716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs116294154	chr18:9621716-9621717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1662883	chr18:9621740-9621741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1787164	chr18:9621826-9621827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1787163	chr18:9621841-9621842	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528624345	chr18:9621929-9621930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192905565	chr18:9621943-9621944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371315382	chr18:9621962-9621963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374224743	chr18:9621966-9621967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568495117	chr18:9621973-9621974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368791891	chr18:9621974-9621975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs8094996	chr18:9621985-9621986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187990289	chr18:9621990-9621991	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs8085040	chr18:9622002-9622003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576673757	chr18:9622134-9622135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181924815	chr18:9622140-9622141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570733317	chr18:9622145-9622146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
2	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9617400-9625400	Weak transcription	HMEC	breast
5	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:9619800-9627400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:9620000-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9620000-9625600	Weak transcription	Hela-S3	cervix
9	chr18:9620000-9627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9620000-9627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial
12	chr18:9620200-9621400	Enhancers	HUVEC	blood vessel
13	chr18:9620200-9623800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr18:9620200-9625200	Weak transcription	NHEK	skin
15	chr18:9620200-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:9620200-9625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:9620200-9627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:9620200-9627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:9620200-9627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:9620200-9627400	Weak transcription	NHLF	lung
21	chr18:9620200-9627400	Weak transcription	Osteobl	bone
22	chr18:9620800-9627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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