Variant report

Variant	esv3347699
Chromosome Location	chr18:12979602-12982600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12969942..12972168-chr18:12978134..12980197,2	K562	blood:
2	chr18:12979831..12981804-chr18:12988179..12989952,2	K562	blood:
3	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:
4	chr18:12977407..12979654-chr18:12980274..12984512,3	K562	blood:
5	chr18:12946854..12949817-chr18:12978964..12982365,3	K562	blood:

Variant related genes	Relation type
ENSG00000101639	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000266969	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376381695	chr18:12979608-12979609	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368838181	chr18:12979642-12979643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550424990	chr18:12979691-12979692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565454870	chr18:12979817-12979818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532357706	chr18:12979845-12979846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180780743	chr18:12979862-12979863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565825471	chr18:12979904-12979905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551684929	chr18:12979977-12979978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530093120	chr18:12979986-12979987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377489068	chr18:12979995-12979996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569804308	chr18:12980005-12980006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371171674	chr18:12980026-12980027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558797727	chr18:12980063-12980064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367997247	chr18:12980085-12980086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570680708	chr18:12980219-12980220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534595550	chr18:12980243-12980244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373588669	chr18:12980328-12980329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553046466	chr18:12980337-12980338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574495378	chr18:12980379-12980380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541901020	chr18:12980388-12980389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556802267	chr18:12980460-12980461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376771409	chr18:12980572-12980573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576548493	chr18:12980595-12980596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370362403	chr18:12980604-12980605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374023345	chr18:12980605-12980606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532716261	chr18:12980615-12980616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570191171	chr18:12980682-12980683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541333429	chr18:12980686-12980687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537359972	chr18:12980691-12980692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549625750	chr18:12980707-12980708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559273634	chr18:12980715-12980716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186267160	chr18:12980724-12980725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530055321	chr18:12980797-12980798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548625649	chr18:12980802-12980803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535478876	chr18:12980834-12980835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553795234	chr18:12980840-12980841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112317407	chr18:12980842-12980843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
38	rs530710026	chr18:12980847-12980848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370117073	chr18:12980853-12980854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570714005	chr18:12980864-12980865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373766082	chr18:12980888-12980889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553308129	chr18:12980889-12980890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568034579	chr18:12980896-12980897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535458519	chr18:12980956-12980957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557006262	chr18:12980989-12980990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575274184	chr18:12980995-12980996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543994294	chr18:12980996-12980997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557680378	chr18:12981034-12981035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181112481	chr18:12981035-12981036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1964084	chr18:12981070-12981071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:55)

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

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:12949200-12989400	Weak transcription	Psoas Muscle	Psoas
3	chr18:12950000-12990200	Weak transcription	Fetal Brain Male	brain
4	chr18:12951400-12990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:12951600-12988200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:12959000-12990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr18:12968600-12983000	Weak transcription	HUVEC	blood vessel
8	chr18:12972800-12990000	Weak transcription	Brain Substantia Nigra	brain
9	chr18:12973200-12983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:12973200-12990200	Weak transcription	Small Intestine	intestine
11	chr18:12974200-12990200	Weak transcription	Brain Hippocampus Middle	brain
12	chr18:12975800-12990200	Weak transcription	Right Ventricle	heart
13	chr18:12976000-12990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:12976200-12982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:12976200-12982200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:12976200-12982600	Weak transcription	Fetal Kidney	kidney
17	chr18:12976200-12982600	Weak transcription	HSMM	muscle
18	chr18:12976200-12983000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:12976200-12984000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:12976400-12982800	Weak transcription	A549	lung
21	chr18:12976400-12983000	Weak transcription	Colonic Mucosa	Colon
22	chr18:12976400-12983000	Weak transcription	Left Ventricle	heart
23	chr18:12976400-12990000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:12976400-12990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr18:12976400-12990000	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:12976400-12990000	Weak transcription	Stomach Mucosa	stomach
27	chr18:12976400-12990200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12976400-12990200	Weak transcription	Brain Angular Gyrus	brain
29	chr18:12976400-12990200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:12976400-12990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:12976400-12990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:12976600-12982600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:12976600-12982600	Weak transcription	Lung	lung
34	chr18:12976600-12982800	Weak transcription	Fetal Brain Female	brain
35	chr18:12976600-12982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:12976600-12983000	Weak transcription	Gastric	stomach
37	chr18:12976600-12983000	Weak transcription	Ovary	ovary
38	chr18:12976600-12990000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:12976600-12990000	Weak transcription	Fetal Heart	heart
40	chr18:12976600-12990200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:12976600-12990200	Weak transcription	Brain Anterior Caudate	brain
42	chr18:12976600-12990200	Weak transcription	Esophagus	oesophagus
43	chr18:12976600-12990200	Weak transcription	Spleen	Spleen
44	chr18:12976600-12990400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr18:12976600-12990800	Weak transcription	Aorta	Aorta
46	chr18:12976800-12982200	Weak transcription	HMEC	breast
47	chr18:12976800-12983000	Weak transcription	Brain Germinal Matrix	brain
48	chr18:12976800-12990200	Weak transcription	Fetal Lung	lung
49	chr18:12977200-12982200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:12977200-12982200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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