Variant report

Variant	esv3330087
Chromosome Location	chr18:12978952-12982050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12977407..12979654-chr18:12980274..12984512,3	K562	blood:
2	chr18:12946854..12949817-chr18:12978964..12982365,3	K562	blood:
3	chr18:12979831..12981804-chr18:12988179..12989952,2	K562	blood:
4	chr18:12969942..12972168-chr18:12978134..12980197,2	K562	blood:
5	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:
6	chr18:12977438..12979296-chr18:12990126..12991644,2	K562	blood:

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

Extended variants
information (count: 125 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532074519	chr18:12978982-12978983	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs116077553	chr18:12978997-12978998	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs56263236	chr18:12979028-12979029	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs61610540	chr18:12979041-12979042	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189596827	chr18:12979049-12979050	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs62095802	chr18:12979056-12979057	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536018946	chr18:12979072-12979073	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56319921	chr18:12979075-12979076	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs397933439	chr18:12979086-12979087	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554382409	chr18:12979162-12979163	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576165433	chr18:12979181-12979182	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546913794	chr18:12979217-12979218	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs9748518	chr18:12979220-12979221	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
14	rs376751843	chr18:12979277-12979278	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576735881	chr18:12979304-12979305	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs541059564	chr18:12979322-12979323	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs9748528	chr18:12979434-12979435	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs9748873	chr18:12979435-12979436	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs202065493	chr18:12979465-12979466	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs559459634	chr18:12979483-12979484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543236709	chr18:12979523-12979524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375654782	chr18:12979524-12979525	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs369084553	chr18:12979562-12979563	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561494838	chr18:12979581-12979582	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs373878313	chr18:12979594-12979595	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376381695	chr18:12979608-12979609	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368838181	chr18:12979642-12979643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550424990	chr18:12979691-12979692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565454870	chr18:12979817-12979818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532357706	chr18:12979845-12979846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180780743	chr18:12979862-12979863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565825471	chr18:12979904-12979905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551684929	chr18:12979977-12979978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530093120	chr18:12979986-12979987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377489068	chr18:12979995-12979996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569804308	chr18:12980005-12980006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371171674	chr18:12980026-12980027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558797727	chr18:12980063-12980064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367997247	chr18:12980085-12980086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570680708	chr18:12980219-12980220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534595550	chr18:12980243-12980244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373588669	chr18:12980328-12980329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553046466	chr18:12980337-12980338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574495378	chr18:12980379-12980380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541901020	chr18:12980388-12980389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556802267	chr18:12980460-12980461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376771409	chr18:12980572-12980573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576548493	chr18:12980595-12980596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370362403	chr18:12980604-12980605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374023345	chr18:12980605-12980606	Weak transcription	Chromatin interactive region	1 gene(s)	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
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

Chromatin state (count:184 , 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	chr18:12953200-12979000	Strong transcription	Fetal Thymus	thymus
7	chr18:12959000-12990200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr18:12968600-12983000	Weak transcription	HUVEC	blood vessel
9	chr18:12969800-12979000	Strong transcription	Primary B cells from cord blood	blood
10	chr18:12969800-12979000	Strong transcription	Osteobl	bone
11	chr18:12970000-12979000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:12970000-12979000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:12970200-12979000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:12970200-12979000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:12970400-12979000	Strong transcription	Primary T cells from cord blood	blood
16	chr18:12970400-12979000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:12970400-12979000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr18:12970400-12979200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:12970400-12979200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:12970600-12979000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr18:12970600-12979000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:12970600-12979000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr18:12970800-12979000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:12970800-12979000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr18:12970800-12979200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:12971000-12979000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:12971000-12979000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr18:12971600-12979000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:12971600-12979000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:12972800-12990000	Weak transcription	Brain Substantia Nigra	brain
31	chr18:12973200-12983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:12973200-12990200	Weak transcription	Small Intestine	intestine
33	chr18:12974200-12979000	Genic enhancers	HepG2	liver
34	chr18:12974200-12990200	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:12975600-12979000	Strong transcription	Hela-S3	cervix
36	chr18:12975800-12990200	Weak transcription	Right Ventricle	heart
37	chr18:12976000-12990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:12976200-12982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:12976200-12982200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:12976200-12982600	Weak transcription	Fetal Kidney	kidney
41	chr18:12976200-12982600	Weak transcription	HSMM	muscle
42	chr18:12976200-12983000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:12976200-12984000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr18:12976400-12982800	Weak transcription	A549	lung
45	chr18:12976400-12983000	Weak transcription	Colonic Mucosa	Colon
46	chr18:12976400-12983000	Weak transcription	Left Ventricle	heart
47	chr18:12976400-12990000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:12976400-12990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr18:12976400-12990000	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:12976400-12990000	Weak transcription	Stomach Mucosa	stomach

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