Variant report

Variant	esv1008833
Chromosome Location	chr18:45299372-45304141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45300398..45302710-chr18:45454784..45457752,2	MCF-7	breast:
2	chr18:45298691..45299611-chr18:45523866..45524534,2	MCF-7	breast:
3	chr18:45302434..45303004-chr18:45972719..45973270,2	K562	blood:
4	chr18:45298838..45299746-chr18:45534468..45535160,2	K562	blood:
5	chr18:45298216..45300539-chr18:45456657..45458316,2	MCF-7	breast:
6	chr18:45303491..45305376-chr18:45454984..45457978,2	K562	blood:
7	chr18:45300220..45301757-chr18:45459466..45461739,2	MCF-7	breast:
8	chr18:45298859..45299663-chr18:45548714..45549718,3	MCF-7	breast:
9	chr18:45298692..45299706-chr18:45548730..45550367,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175387	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577043408	chr18:45299389-45299390	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545542368	chr18:45299395-45299396	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191768706	chr18:45299397-45299398	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs877354	chr18:45299401-45299402	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549923382	chr18:45299466-45299467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577663967	chr18:45299469-45299470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569920510	chr18:45299504-45299505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34847890	chr18:45299515-45299516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531300557	chr18:45299518-45299519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34004670	chr18:45299526-45299527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114021364	chr18:45299548-45299549	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79583120	chr18:45299596-45299597	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183539668	chr18:45299652-45299653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533579368	chr18:45299678-45299679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188933234	chr18:45299693-45299694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141851838	chr18:45299694-45299695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112420193	chr18:45299748-45299749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2156839	chr18:45299803-45299804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539778526	chr18:45299829-45299830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192558391	chr18:45299845-45299846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2134373	chr18:45299870-45299871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150622698	chr18:45299906-45299907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576346549	chr18:45299999-45300000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545469559	chr18:45300009-45300010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543484519	chr18:45300024-45300025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369087562	chr18:45300038-45300039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35015079	chr18:45300059-45300060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397949828	chr18:45300060-45300061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35098801	chr18:45300084-45300085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558811350	chr18:45300085-45300086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572524480	chr18:45300086-45300087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75095002	chr18:45300089-45300090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561346795	chr18:45300168-45300169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1107934	chr18:45300176-45300177	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182111279	chr18:45300177-45300178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563529562	chr18:45300194-45300195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1107933	chr18:45300257-45300258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138708264	chr18:45300283-45300284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564798814	chr18:45300292-45300293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186792738	chr18:45300296-45300297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191593772	chr18:45300393-45300394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547037356	chr18:45300425-45300426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116300113	chr18:45300450-45300451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536541512	chr18:45300453-45300454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184831885	chr18:45300510-45300511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189710069	chr18:45300512-45300513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538427885	chr18:45300601-45300602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149335384	chr18:45300666-45300667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59879358	chr18:45300691-45300692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146272777	chr18:45300715-45300716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45282800-45300600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:45298600-45299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:45298800-45299400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:45298800-45299600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:45298800-45299600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:45298800-45299600	Enhancers	Hela-S3	cervix
7	chr18:45299000-45299400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr18:45299000-45299400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr18:45299200-45299600	Enhancers	Dnd41	blood
10	chr18:45299200-45299600	Weak transcription	HSMMtube	muscle
11	chr18:45299200-45299800	Enhancers	A549	lung
12	chr18:45299400-45299600	Enhancers	Placenta	Placenta
13	chr18:45299600-45300600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:45299600-45304600	Weak transcription	Placenta	Placenta
15	chr18:45299600-45306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:45299800-45300200	Weak transcription	A549	lung
17	chr18:45300200-45300600	Enhancers	A549	lung
18	chr18:45300600-45300800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr18:45300600-45300800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:45300600-45300800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:45300600-45300800	Enhancers	HSMMtube	muscle
22	chr18:45303800-45304800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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