Variant report

Variant	esv3424747
Chromosome Location	chr18:45507779-45510327
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	chr18:45504611..45507573-chr18:45509284..45511408,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544482084	chr18:45507780-45507781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367993434	chr18:45507814-45507815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148534834	chr18:45507828-45507829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28564507	chr18:45507846-45507847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527981993	chr18:45507865-45507866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35583626	chr18:45507884-45507885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548070707	chr18:45507910-45507911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528111804	chr18:45507921-45507922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370442876	chr18:45507929-45507930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182543843	chr18:45507937-45507938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568269306	chr18:45507981-45507982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111455425	chr18:45507989-45507990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547371906	chr18:45507991-45507992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544894341	chr18:45508007-45508008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187209619	chr18:45508055-45508056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9954266	chr18:45508092-45508093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570343858	chr18:45508097-45508098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538612147	chr18:45508098-45508099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539222027	chr18:45508137-45508138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142869241	chr18:45508154-45508155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570651019	chr18:45508161-45508162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4940159	chr18:45508179-45508180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9954448	chr18:45508229-45508230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113011962	chr18:45508244-45508245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140016064	chr18:45508314-45508315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143510331	chr18:45508343-45508344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190463250	chr18:45508372-45508373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9965376	chr18:45508375-45508376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565444925	chr18:45508406-45508407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574249214	chr18:45508429-45508430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76389314	chr18:45508463-45508464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535512472	chr18:45508472-45508473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541560628	chr18:45508487-45508488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146762128	chr18:45508519-45508520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530407179	chr18:45508528-45508529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550878721	chr18:45508532-45508533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555931839	chr18:45508537-45508538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553620024	chr18:45508545-45508546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572343770	chr18:45508557-45508558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532975389	chr18:45508585-45508586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9965911	chr18:45508606-45508607	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183429502	chr18:45508619-45508620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574211309	chr18:45508627-45508628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188831419	chr18:45508634-45508635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73443987	chr18:45508635-45508636	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555564268	chr18:45508660-45508661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569261796	chr18:45508741-45508742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537824398	chr18:45508788-45508789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146536319	chr18:45508799-45508800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12968583	chr18:45508807-45508808	Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45501800-45510200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:45502200-45510000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:45502600-45508000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:45505000-45508600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:45506200-45508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:45506200-45510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:45506400-45508200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:45506600-45509600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:45507000-45508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:45507000-45508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:45507200-45508200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:45507600-45507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:45507600-45508200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:45507600-45508400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:45507600-45508400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:45507600-45508400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:45507600-45508400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:45507600-45508600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:45507800-45508200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:45507800-45508600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr18:45508000-45508200	Enhancers	Fetal Brain Male	brain
22	chr18:45508000-45508400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:45508000-45508600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:45508000-45508600	Enhancers	Fetal Thymus	thymus
25	chr18:45508200-45508400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:45508200-45508400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:45508200-45509400	Weak transcription	Fetal Brain Male	brain
28	chr18:45508200-45510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:45508200-45510400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:45508400-45509400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:45508400-45509600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:45508400-45509800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:45508400-45510000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr18:45508400-45510200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr18:45508400-45510200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:45508600-45509400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:45508600-45509600	Weak transcription	Fetal Thymus	thymus
38	chr18:45508800-45509000	Flanking Active TSS	HSMM	muscle
39	chr18:45508800-45509200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr18:45509000-45509200	Active TSS	HSMM	muscle
41	chr18:45509200-45510400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr18:45509200-45513000	Weak transcription	HSMM	muscle
43	chr18:45509200-45514800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr18:45509400-45510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:45509400-45511000	Enhancers	Fetal Brain Male	brain
46	chr18:45509600-45509800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr18:45509600-45509800	Enhancers	Fetal Thymus	thymus
48	chr18:45509600-45510400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr18:45509600-45511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:45509800-45510000	Enhancers	Primary B cells from cord blood	blood

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