Variant report

Variant	esv3383704
Chromosome Location	chr18:9625712-9627822
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	chr18:9613984..9616177-chr18:9626000..9628106,2	K562	blood:
2	chr18:9627468..9629148-chr18:9631077..9633967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263627	chromatin interactions
ENSG00000154845	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs638578	chr18:9625750-9625751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192729409	chr18:9625777-9625778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370186131	chr18:9625790-9625791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183861748	chr18:9625809-9625810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561892685	chr18:9625813-9625814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529607296	chr18:9625819-9625820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114989774	chr18:9625826-9625827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138038189	chr18:9625832-9625833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150338415	chr18:9625892-9625893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188244916	chr18:9625896-9625897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9675438	chr18:9625915-9625916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3974276	chr18:9625917-9625918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202231377	chr18:9625918-9625919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552349915	chr18:9625932-9625933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111366430	chr18:9625934-9625935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528155289	chr18:9625956-9625957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546636309	chr18:9625966-9625967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62080294	chr18:9625970-9625971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535758399	chr18:9626031-9626032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535766980	chr18:9626037-9626038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534296042	chr18:9626054-9626055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375393657	chr18:9626073-9626074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7231438	chr18:9626087-9626088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539244838	chr18:9626103-9626104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557482128	chr18:9626123-9626124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573009394	chr18:9626124-9626125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540295859	chr18:9626160-9626161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs3859294	chr18:9626179-9626180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573936256	chr18:9626189-9626190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144677888	chr18:9626247-9626248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563036464	chr18:9626259-9626260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7227198	chr18:9626288-9626289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1662885	chr18:9626294-9626295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs117733828	chr18:9626300-9626301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528214036	chr18:9626311-9626312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200216913	chr18:9626335-9626336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs56285834	chr18:9626374-9626375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7227499	chr18:9626465-9626466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139823013	chr18:9626473-9626474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369149960	chr18:9626569-9626570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372208709	chr18:9626571-9626572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35145140	chr18:9626584-9626585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs55844630	chr18:9626585-9626586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56287683	chr18:9626588-9626589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs386801048	chr18:9626590-9626591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561403560	chr18:9626598-9626599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56114794	chr18:9626619-9626620	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs62080295	chr18:9626647-9626648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527307520	chr18:9626650-9626651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs62080297	chr18:9626654-9626655	Weak transcription Enhancers	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9619800-9627400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:9620000-9627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:9620000-9627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial
7	chr18:9620200-9627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:9620200-9627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:9620200-9627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:9620200-9627400	Weak transcription	NHLF	lung
11	chr18:9620200-9627400	Weak transcription	Osteobl	bone
12	chr18:9620800-9627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:9625200-9626400	Enhancers	Placenta	Placenta
14	chr18:9625200-9628200	Enhancers	NHEK	skin
15	chr18:9625400-9625800	Enhancers	HMEC	breast
16	chr18:9625400-9626200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:9625400-9626200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:9625400-9626400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:9625600-9625800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr18:9625600-9626000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:9625600-9628200	Enhancers	Hela-S3	cervix
22	chr18:9625800-9627200	Weak transcription	HMEC	breast
23	chr18:9625800-9627400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:9626000-9627600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:9626200-9627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:9626200-9628200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:9626400-9626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:9626400-9628000	Weak transcription	Placenta	Placenta
29	chr18:9626800-9628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:9627000-9628000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:9627000-9628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:9627200-9627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr18:9627200-9628000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr18:9627200-9628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:9627200-9628200	Enhancers	HMEC	breast
36	chr18:9627400-9627600	Enhancers	A549	lung
37	chr18:9627400-9627800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr18:9627400-9627800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:9627400-9628000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:9627400-9628000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr18:9627400-9628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr18:9627400-9628000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:9627400-9628000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr18:9627400-9628000	Enhancers	K562	blood
45	chr18:9627400-9628000	Enhancers	NH-A	brain
46	chr18:9627400-9628000	Enhancers	Osteobl	bone
47	chr18:9627400-9628200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr18:9627400-9628200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:9627400-9628200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:9627400-9628200	Enhancers	NHLF	lung

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