Variant report

Variant	esv1850086
Chromosome Location	chr18:44770317-44774906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2684847	chr18:44770317-44770318	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182937863	chr18:44770323-44770324	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs556341388	chr18:44770420-44770421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs187989682	chr18:44770450-44770451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs528911636	chr18:44770474-44770475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs542081538	chr18:44770495-44770496	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552708472	chr18:44770521-44770522	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs561616641	chr18:44770549-44770550	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs548714032	chr18:44770579-44770580	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs115139738	chr18:44770599-44770600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs535403445	chr18:44770602-44770603	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2668772	chr18:44770621-44770622	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs575582212	chr18:44770710-44770711	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544558376	chr18:44770740-44770741	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10502880	chr18:44770746-44770747	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs139379803	chr18:44770747-44770748	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540842699	chr18:44770782-44770783	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560711029	chr18:44770918-44770919	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529507904	chr18:44770919-44770920	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144100096	chr18:44770964-44770965	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116556929	chr18:44770965-44770966	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571530792	chr18:44771008-44771009	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192314978	chr18:44771054-44771055	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561006405	chr18:44771157-44771158	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67918319	chr18:44771159-44771160	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570461621	chr18:44771173-44771174	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369814820	chr18:44771176-44771177	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532904006	chr18:44771189-44771190	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185081406	chr18:44771295-44771296	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189508010	chr18:44771300-44771301	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535253171	chr18:44771311-44771312	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550746259	chr18:44771346-44771347	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537212800	chr18:44771419-44771420	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs201348002	chr18:44771420-44771421	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs199997306	chr18:44771433-44771434	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs17723754	chr18:44771481-44771482	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569107337	chr18:44771530-44771531	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs143997513	chr18:44771603-44771604	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs558094397	chr18:44771656-44771657	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs541012202	chr18:44771672-44771673	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs10163701	chr18:44771713-44771714	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs578064818	chr18:44771719-44771720	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs534337365	chr18:44771732-44771733	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs554287097	chr18:44771811-44771812	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs202058415	chr18:44771850-44771851	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs10670977	chr18:44771866-44771867	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs574319585	chr18:44771904-44771905	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs564451787	chr18:44771946-44771947	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs543172639	chr18:44771956-44771957	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs72914803	chr18:44771969-44771970	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44763400-44772400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr18:44768800-44770600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr18:44769000-44770600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr18:44769200-44770400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:44769200-44771200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:44769200-44772800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr18:44769400-44770400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:44769800-44772600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr18:44770400-44772600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr18:44770600-44770800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr18:44770600-44770800	Bivalent Enhancer	Brain Germinal Matrix	brain
12	chr18:44770600-44770800	Bivalent Enhancer	Fetal Brain Female	brain
13	chr18:44770600-44771400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr18:44770600-44772400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr18:44770600-44772600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr18:44771000-44772200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:44771200-44772000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:44771200-44772600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr18:44772200-44772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:44772200-44772800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr18:44772200-44773000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr18:44772400-44772600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr18:44772400-44772800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr18:44772600-44772800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr18:44772600-44772800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr18:44772600-44772800	Bivalent Enhancer	Liver	Liver
30	chr18:44772600-44773000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr18:44772600-44774000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:44772600-44774200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr18:44772800-44773000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr18:44772800-44773200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr18:44772800-44773200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:44772800-44773800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr18:44772800-44774400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr18:44772800-44774400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr18:44773000-44773200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr18:44773000-44773200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:44773000-44773200	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr18:44773000-44773600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:44773000-44774000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:44773000-44774000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:44773000-44774400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:44773200-44773400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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