Variant report

Variant	esv274948
Chromosome Location	chr18:45552290-45557862
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:2)
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	chr18:45550183..45552921-chr18:45552993..45555401,3	MCF-7	breast:
2	chr18:45550473..45554043-chr18:45555888..45558338,3	K562	blood:
3	chr18:45550473..45553185-chr18:45556657..45558338,2	K562	blood:
4	chr18:45553350..45555228-chr18:45979772..45981964,2	MCF-7	breast:
5	chr18:45555494..45557738-chr18:45683737..45686680,2	MCF-7	breast:
6	chr18:45550473..45553185-chr18:45556657..45558338,2	K562	blood:
7	chr18:45550183..45552921-chr18:45552993..45555401,3	MCF-7	breast:
8	chr18:45557021..45557932-chr18:45972675..45973374,2	MCF-7	breast:
9	chr18:45550473..45554043-chr18:45555888..45558338,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-2	chr18:45553703-45555546	NONHSAT059180
2	lnc-ZBTB7C-2	chr18:45553258-45553525	NONHSAT059180

No data

Extended variants
information (count: 235 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8088785	chr18:45552290-45552291	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78994778	chr18:45552372-45552373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577914186	chr18:45552446-45552447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534151325	chr18:45552473-45552474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553929661	chr18:45552477-45552478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536136725	chr18:45552491-45552492	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541863911	chr18:45552494-45552495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561538934	chr18:45552498-45552499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575236577	chr18:45552590-45552591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144380355	chr18:45552619-45552620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555731283	chr18:45552644-45552645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11365551	chr18:45552661-45552662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368891862	chr18:45552666-45552667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577632714	chr18:45552681-45552682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546833928	chr18:45552693-45552694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560359866	chr18:45552703-45552704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529407638	chr18:45552724-45552725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549413572	chr18:45552728-45552729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572655301	chr18:45552729-45552730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8089512	chr18:45552755-45552756	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551463491	chr18:45552772-45552773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183813076	chr18:45552820-45552821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534187054	chr18:45552841-45552842	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553949639	chr18:45552848-45552849	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573856887	chr18:45552849-45552850	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147382928	chr18:45552862-45552863	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114934465	chr18:45552863-45552864	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148418913	chr18:45552873-45552874	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114917966	chr18:45552882-45552883	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113315632	chr18:45552913-45552914	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578016684	chr18:45552927-45552928	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188543290	chr18:45552973-45552974	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369204017	chr18:45552982-45552983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34383319	chr18:45552994-45552995	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs56830351	chr18:45552995-45552996	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181331357	chr18:45553021-45553022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563027327	chr18:45553063-45553064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531696026	chr18:45553085-45553086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576986870	chr18:45553090-45553091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572341957	chr18:45553108-45553109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112670701	chr18:45553109-45553110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185115932	chr18:45553114-45553115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375785951	chr18:45553121-45553122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201957482	chr18:45553122-45553123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562466794	chr18:45553148-45553149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576301823	chr18:45553222-45553223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540497594	chr18:45553328-45553329	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534232962	chr18:45553336-45553337	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs190317066	chr18:45553378-45553379	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs371764447	chr18:45553399-45553400	Weak transcription Enhancers	lncRNA	n/a	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
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45547200-45555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:45547800-45553200	Enhancers	Adipose Nuclei	Adipose
3	chr18:45548000-45553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:45548000-45554000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:45548600-45553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:45549000-45553400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:45549200-45553800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:45549200-45554000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:45549200-45556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:45549200-45557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:45549600-45553200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:45550200-45552800	Weak transcription	HSMMtube	muscle
13	chr18:45550400-45553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:45550400-45553600	Weak transcription	Fetal Heart	heart
15	chr18:45550400-45553800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:45550400-45553800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:45550400-45553800	Weak transcription	Right Atrium	heart
18	chr18:45550400-45553800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:45550400-45554000	Weak transcription	Right Ventricle	heart
20	chr18:45550400-45556400	Weak transcription	Fetal Intestine Small	intestine
21	chr18:45550400-45563400	Weak transcription	Stomach Mucosa	stomach
22	chr18:45550600-45553200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:45550600-45553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:45550600-45553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:45550600-45553600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:45550600-45553600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:45550600-45553600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:45550600-45553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:45550600-45553800	Weak transcription	Brain Substantia Nigra	brain
30	chr18:45550600-45554000	Weak transcription	Fetal Kidney	kidney
31	chr18:45550600-45564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:45550800-45552800	Weak transcription	Fetal Lung	lung
33	chr18:45550800-45553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:45550800-45553600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr18:45550800-45553800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:45550800-45553800	Weak transcription	Placenta	Placenta
37	chr18:45550800-45553800	Weak transcription	Left Ventricle	heart
38	chr18:45550800-45553800	Weak transcription	Ovary	ovary
39	chr18:45550800-45554000	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:45550800-45555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:45550800-45557800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr18:45550800-45559600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:45550800-45560200	Weak transcription	Gastric	stomach
44	chr18:45550800-45563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:45551000-45553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:45551000-45553200	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:45551000-45553600	Weak transcription	HMEC	breast
48	chr18:45551000-45553800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:45551000-45553800	Weak transcription	A549	lung
50	chr18:45551000-45554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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