Variant report

Variant	esv3370142
Chromosome Location	chr18:13036996-13037190
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	chr18:13032734..13035826-chr18:13036723..13041080,5	K562	blood:
2	chr18:13032939..13034812-chr18:13035452..13038047,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530574002	chr18:13036999-13037000	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8097038	chr18:13037018-13037019	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs117747593	chr18:13037116-13037117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528395822	chr18:13037148-13037149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186657210	chr18:13037178-13037179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568004533	chr18:13037183-13037184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149983373	chr18:13037187-13037188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:12998400-13041600	Strong transcription	Dnd41	blood
3	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
4	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr18:13011400-13038800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
10	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
12	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
13	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
14	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:13017600-13042200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:13018400-13038400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
18	chr18:13023800-13037200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:13024000-13038600	Strong transcription	Fetal Intestine Large	intestine
20	chr18:13024000-13039400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:13024000-13042400	Weak transcription	Fetal Brain Female	brain
22	chr18:13024200-13041800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:13024200-13042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:13024800-13039800	Strong transcription	Fetal Muscle Leg	muscle
25	chr18:13026200-13039200	Strong transcription	Primary T cells from cord blood	blood
26	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:13030000-13048600	Weak transcription	Brain Substantia Nigra	brain
28	chr18:13031000-13040600	Strong transcription	Fetal Stomach	stomach
29	chr18:13031000-13048400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr18:13031000-13048600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:13032000-13047000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr18:13032000-13048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:13032000-13048200	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
35	chr18:13032200-13042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr18:13032200-13043000	Weak transcription	Pancreas	Pancrea
37	chr18:13032400-13038800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:13032400-13041000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:13032400-13048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:13032600-13041600	Weak transcription	A549	lung
41	chr18:13032600-13042000	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:13032600-13048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr18:13032800-13042000	Weak transcription	NH-A	brain
44	chr18:13033000-13041800	Weak transcription	Brain Germinal Matrix	brain
45	chr18:13033000-13042200	Weak transcription	Fetal Kidney	kidney
46	chr18:13033000-13043000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:13033000-13046000	Weak transcription	Brain Angular Gyrus	brain
48	chr18:13033000-13046000	Weak transcription	Spleen	Spleen
49	chr18:13033000-13047200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain

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