Variant report

Variant	esv3407279
Chromosome Location	chr18:44094554-44098852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44026027..44026530-chr18:44098213..44098990,2	MCF-7	breast:
2	chr18:44095530..44097503-chr18:44097769..44100427,2	K562	blood:
3	chr18:44094811..44097341-chr18:44105549..44107899,2	K562	blood:

Variant related genes	Relation type
ENSG00000167210	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186429359	chr18:44094584-44094585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117353628	chr18:44094614-44094615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554688202	chr18:44094635-44094636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572702616	chr18:44094667-44094668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569613534	chr18:44094673-44094674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537069946	chr18:44094695-44094696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558220249	chr18:44094699-44094700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12458442	chr18:44094704-44094705	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190795851	chr18:44094767-44094768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552603925	chr18:44094873-44094874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553990007	chr18:44094877-44094878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146637393	chr18:44094944-44094945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542780345	chr18:44094990-44094991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561455292	chr18:44095071-44095072	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181541474	chr18:44095084-44095085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372214228	chr18:44095098-44095099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543810907	chr18:44095113-44095114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569315320	chr18:44095114-44095115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565129062	chr18:44095135-44095136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149181200	chr18:44095239-44095240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538244649	chr18:44095247-44095248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186471597	chr18:44095252-44095253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565914598	chr18:44095257-44095258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143352504	chr18:44095329-44095330	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151268053	chr18:44095333-44095334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386802894	chr18:44095346-44095347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369289947	chr18:44095354-44095355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191501703	chr18:44095356-44095357	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1551233	chr18:44095365-44095366	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568786648	chr18:44095409-44095410	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375263279	chr18:44095416-44095417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530953793	chr18:44095431-44095432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375747594	chr18:44095440-44095441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570349541	chr18:44095442-44095443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538974529	chr18:44095532-44095533	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554059548	chr18:44095539-44095540	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529152515	chr18:44095542-44095543	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536452341	chr18:44095543-44095544	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182823090	chr18:44095664-44095665	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140515159	chr18:44095709-44095710	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543551862	chr18:44095746-44095747	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75212998	chr18:44095758-44095759	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577292022	chr18:44095825-44095826	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187912756	chr18:44095861-44095862	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559704726	chr18:44095874-44095875	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147032971	chr18:44095876-44095877	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73953857	chr18:44095879-44095880	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542992774	chr18:44095903-44095904	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554370412	chr18:44095912-44095913	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578146149	chr18:44095917-44095918	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44086000-44114400	Weak transcription	Spleen	Spleen
2	chr18:44086800-44099200	Weak transcription	Right Ventricle	heart
3	chr18:44088000-44096400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:44093200-44118600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:44093200-44120400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:44094000-44126000	Weak transcription	Adipose Nuclei	Adipose
7	chr18:44096400-44098800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr18:44097800-44098400	Enhancers	Fetal Heart	heart
9	chr18:44098200-44098800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr18:44098200-44099000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr18:44098200-44099000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:44098400-44098600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:44098400-44098600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr18:44098800-44107800	Strong transcription	Monocytes-CD14+_RO01746	blood

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