Variant report

Variant	esv3327478
Chromosome Location	chr18:14447252-14450450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71217326	chr18:14448803-14448804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563035913	chr18:14448814-14448815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71217327	chr18:14448825-14448826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561804496	chr18:14448863-14448864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71320489	chr18:14448871-14448872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551607020	chr18:14448881-14448882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71317558	chr18:14448905-14448906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28575092	chr18:14448936-14448937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62080619	chr18:14448960-14448961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548091851	chr18:14448975-14448976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71317557	chr18:14448996-14448997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566322660	chr18:14449008-14449009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535466347	chr18:14449042-14449043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548793967	chr18:14449063-14449064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569018398	chr18:14449100-14449101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537941274	chr18:14449101-14449102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557941121	chr18:14449234-14449235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577925120	chr18:14449241-14449242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188573782	chr18:14449242-14449243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554065926	chr18:14449268-14449269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573938250	chr18:14449282-14449283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543050696	chr18:14449311-14449312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556236391	chr18:14449375-14449376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576081510	chr18:14449390-14449391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545107776	chr18:14449412-14449413	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193133916	chr18:14449493-14449494	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527907131	chr18:14449494-14449495	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370520792	chr18:14449508-14449509	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112697149	chr18:14449511-14449512	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541345733	chr18:14449520-14449521	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561665009	chr18:14449539-14449540	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374881855	chr18:14449654-14449655	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370502870	chr18:14449673-14449674	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs60722799	chr18:14449676-14449677	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183334542	chr18:14449717-14449718	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186964311	chr18:14449745-14449746	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568876466	chr18:14449761-14449762	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531396768	chr18:14449794-14449795	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551526244	chr18:14449795-14449796	Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571447338	chr18:14449842-14449843	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371838640	chr18:14449897-14449898	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs71360369	chr18:14449910-14449911	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs55937590	chr18:14449939-14449940	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71360371	chr18:14449949-14449950	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs71360372	chr18:14450003-14450004	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71360373	chr18:14450064-14450065	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs71360374	chr18:14450071-14450072	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs56291485	chr18:14450076-14450077	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567599316	chr18:14450137-14450138	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536159729	chr18:14450207-14450208	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14448800-14450400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:14449400-14449600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:14449400-14449600	Enhancers	Pancreas	Pancrea
4	chr18:14449400-14449800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr18:14449600-14451000	Active TSS	HSMM	muscle
6	chr18:14450000-14450200	Enhancers	Adipose Nuclei	Adipose
7	chr18:14450000-14450200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr18:14450000-14450200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr18:14450000-14450600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr18:14450000-14451000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:14450000-14451000	Active TSS	Brain Germinal Matrix	brain
12	chr18:14450000-14451000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:14450000-14451000	Active TSS	Colonic Mucosa	Colon
14	chr18:14450000-14451000	Active TSS	Colon Smooth Muscle	Colon
15	chr18:14450000-14451000	Active TSS	Fetal Brain Female	brain
16	chr18:14450000-14451200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:14450200-14450400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr18:14450200-14450400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:14450200-14450800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr18:14450200-14450800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:14450200-14451000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:14450200-14451000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:14450200-14451000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr18:14450200-14451000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:14450200-14451000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr18:14450200-14451000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:14450200-14451000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:14450200-14451000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:14450200-14451000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:14450200-14451000	Active TSS	Adipose Nuclei	Adipose
31	chr18:14450200-14451000	Active TSS	Brain Angular Gyrus	brain
32	chr18:14450200-14451000	Active TSS	Brain Hippocampus Middle	brain
33	chr18:14450200-14451000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr18:14450200-14451000	Active TSS	Esophagus	oesophagus
35	chr18:14450200-14451000	Active TSS	Left Ventricle	heart
36	chr18:14450200-14451000	Active TSS	Pancreas	Pancrea
37	chr18:14450200-14451000	Active TSS	Right Ventricle	heart
38	chr18:14450200-14451000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr18:14450200-14451000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr18:14450200-14451000	Active TSS	Stomach Smooth Muscle	stomach
41	chr18:14450200-14451200	Active TSS	HMEC	breast
42	chr18:14450200-14453400	Active TSS	Osteobl	bone
43	chr18:14450400-14450800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:14450400-14451000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr18:14450400-14451000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:14450400-14451000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:14450400-14451000	Active TSS	Primary hematopoietic stem cells	blood
48	chr18:14450400-14451000	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr18:14450400-14451000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr18:14450400-14451000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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