Variant report

Variant	esv3317367
Chromosome Location	chr18:28771244-28776059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:28763439..28766393-chr18:28769672..28771413,2	K562	blood:
2	chr18:28771150..28772798-chr18:28773593..28775966,2	MCF-7	breast:
3	chr18:28679710..28682088-chr18:28771567..28773606,2	MCF-7	breast:
4	chr18:28773850..28776194-chr18:28777418..28780175,2	MCF-7	breast:
5	chr18:28682778..28684607-chr18:28773976..28775884,2	MCF-7	breast:
6	chr18:28771150..28772798-chr18:28773593..28775966,2	MCF-7	breast:
7	chr18:28775974..28778249-chr18:28784606..28787686,3	K562	blood:

Variant related genes	Relation type
ENSG00000265888	chromatin interactions
ENSG00000134755	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112364470	chr18:28771310-28771311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373010240	chr18:28771314-28771315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534829998	chr18:28771344-28771345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553240574	chr18:28771401-28771402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577888318	chr18:28771406-28771407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375982158	chr18:28771416-28771417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559760895	chr18:28771470-28771471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73952876	chr18:28771537-28771538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12232705	chr18:28771552-28771553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370369065	chr18:28771638-28771639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139929505	chr18:28771661-28771662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145565893	chr18:28771669-28771670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562066126	chr18:28771688-28771689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573959424	chr18:28771727-28771728	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199778843	chr18:28771738-28771739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559568250	chr18:28771746-28771747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372565243	chr18:28771747-28771748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs16961418	chr18:28771773-28771774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11292000	chr18:28771805-28771806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6506895	chr18:28771843-28771844	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563351599	chr18:28771846-28771847	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530448485	chr18:28771924-28771925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs16961419	chr18:28771972-28771973	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567257405	chr18:28772030-28772031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370326353	chr18:28772108-28772109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528421991	chr18:28772134-28772135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537772912	chr18:28772186-28772187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546911493	chr18:28772222-28772223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185284626	chr18:28772238-28772239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190542378	chr18:28772354-28772355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182849321	chr18:28772359-28772360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147310351	chr18:28772391-28772392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570105963	chr18:28772403-28772404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549674475	chr18:28772446-28772447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189242234	chr18:28772458-28772459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555374633	chr18:28772539-28772540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573696028	chr18:28772554-28772555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541367441	chr18:28772557-28772558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191890552	chr18:28772610-28772611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567314935	chr18:28772650-28772651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578112827	chr18:28772725-28772726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545558786	chr18:28772731-28772732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140918481	chr18:28772793-28772794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530667627	chr18:28772863-28772864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1365296	chr18:28772910-28772911	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560910012	chr18:28772916-28772917	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs149859502	chr18:28772964-28772965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546923644	chr18:28773015-28773016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571470058	chr18:28773035-28773036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs552800981	chr18:28773063-28773064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28769200-28773200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:28770400-28771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:28770400-28773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28770600-28771400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:28770600-28771400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:28770600-28771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:28770600-28772600	Enhancers	HMEC	breast
8	chr18:28770600-28773200	Enhancers	NHEK	skin
9	chr18:28770800-28773600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr18:28771000-28771400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr18:28771000-28771400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr18:28771000-28789000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:28771200-28771400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:28771200-28772800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:28771200-28778800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:28771400-28771800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:28771400-28772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:28771400-28772800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:28771400-28773000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:28771400-28783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr18:28771600-28772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:28771800-28772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:28772000-28772600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:28772400-28773000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:28772400-28773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:28772600-28777200	Weak transcription	HMEC	breast
27	chr18:28772600-28777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:28772800-28773000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:28772800-28773400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:28772800-28773400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr18:28772800-28773600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr18:28773000-28773600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr18:28773000-28777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:28773200-28773600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:28773200-28773600	Enhancers	K562	blood
36	chr18:28773200-28777200	Weak transcription	NHEK	skin
37	chr18:28773400-28777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:28773400-28777600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:28773400-28779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr18:28773600-28775200	Weak transcription	K562	blood
41	chr18:28773600-28777000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:28773600-28777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:28773600-28778800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:28773600-28779400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:28775000-28775400	Enhancers	Stomach Mucosa	stomach
46	chr18:28775200-28775800	Enhancers	K562	blood
47	chr18:28775400-28777000	Weak transcription	Stomach Mucosa	stomach
48	chr18:28775800-28783000	Weak transcription	K562	blood

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