Variant report

Variant	nsv978567
Chromosome Location	chr18:14430233-14439251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185199224	chr18:14430260-14430261	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555609921	chr18:14430312-14430313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556806943	chr18:14430325-14430326	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573617713	chr18:14430399-14430400	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539441982	chr18:14430419-14430420	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148980648	chr18:14430437-14430438	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199724787	chr18:14430457-14430458	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62080595	chr18:14430478-14430479	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs573195247	chr18:14430500-14430501	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541920161	chr18:14430530-14430531	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562227374	chr18:14430623-14430624	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200212041	chr18:14430643-14430644	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575880581	chr18:14430648-14430649	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528061526	chr18:14430668-14430669	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544848473	chr18:14430681-14430682	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564754379	chr18:14430686-14430687	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559123724	chr18:14430689-14430690	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577710886	chr18:14430713-14430714	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533708945	chr18:14430790-14430791	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs6505894	chr18:14430797-14430798	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550739657	chr18:14430812-14430813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71367934	chr18:14430813-14430814	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71176038	chr18:14430815-14430816	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374868363	chr18:14430899-14430900	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559039049	chr18:14430935-14430936	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368066692	chr18:14430955-14430956	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528096480	chr18:14430976-14430977	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8093265	chr18:14430985-14430986	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112705438	chr18:14431005-14431006	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs567833923	chr18:14431032-14431033	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs536825940	chr18:14431075-14431076	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs550403378	chr18:14431092-14431093	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs570413486	chr18:14431095-14431096	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs539303213	chr18:14431165-14431166	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs553243481	chr18:14431167-14431168	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs573122545	chr18:14431184-14431185	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs535864918	chr18:14431242-14431243	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555557969	chr18:14431256-14431257	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563516780	chr18:14431262-14431263	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189668654	chr18:14431287-14431288	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564715943	chr18:14431297-14431298	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578219180	chr18:14431301-14431302	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540529062	chr18:14431308-14431309	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149297632	chr18:14431319-14431320	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528045416	chr18:14431320-14431321	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541835148	chr18:14431335-14431336	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370268105	chr18:14431339-14431340	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561428894	chr18:14431363-14431364	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117337255	chr18:14431379-14431380	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs8097139	chr18:14431414-14431415	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14416000-14430400	Weak transcription	Osteobl	bone
2	chr18:14429800-14431800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14430400-14430600	Enhancers	Liver	Liver
4	chr18:14430400-14430600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr18:14430400-14430600	Enhancers	Gastric	stomach
6	chr18:14430400-14430600	Flanking Active TSS	Osteobl	bone
7	chr18:14430400-14430800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr18:14430400-14431000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:14430400-14431400	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr18:14430400-14431600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:14430400-14431600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr18:14430400-14432000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr18:14430600-14430800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:14430600-14430800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:14430600-14430800	Flanking Active TSS	Liver	Liver
16	chr18:14430600-14430800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr18:14430600-14430800	Flanking Active TSS	Gastric	stomach
18	chr18:14430600-14431000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr18:14430600-14431000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:14430600-14431000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr18:14430600-14431000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:14430600-14431000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr18:14430600-14431000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:14430600-14431000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:14430600-14431000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:14430600-14431000	Enhancers	Adipose Nuclei	Adipose
27	chr18:14430600-14431000	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr18:14430600-14431200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
29	chr18:14430600-14431200	Active TSS	Placenta	Placenta
30	chr18:14430600-14431200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr18:14430600-14431200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr18:14430600-14431400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:14430600-14431400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:14430600-14431400	Active TSS	Brain Angular Gyrus	brain
35	chr18:14430600-14431400	Active TSS	Brain Anterior Caudate	brain
36	chr18:14430600-14431400	Active TSS	Colon Smooth Muscle	Colon
37	chr18:14430600-14431400	Active TSS	Duodenum Mucosa	Duodenum
38	chr18:14430600-14431400	Active TSS	Fetal Intestine Small	intestine
39	chr18:14430600-14431400	Active TSS	Fetal Kidney	kidney
40	chr18:14430600-14431400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr18:14430600-14431400	Active TSS	A549	lung
42	chr18:14430600-14431400	Active TSS	Hela-S3	cervix
43	chr18:14430600-14431600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr18:14430600-14431600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:14430600-14431600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr18:14430600-14431600	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr18:14430600-14431600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr18:14430600-14431600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:14430600-14431600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:14430600-14431600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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