Variant report

Variant	esv3316513
Chromosome Location	chr18:11865087-11866912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11849782..11853357-chr18:11861149..11865205,5	K562	blood:
2	chr18:11853567..11855306-chr18:11862502..11865117,2	K562	blood:
3	chr18:11854912..11857542-chr18:11866452..11868322,3	K562	blood:

Variant related genes	Relation type
ENSG00000255112	chromatin interactions
ENSG00000141404	chromatin interactions
ENSG00000267165	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375455070	chr18:11865087-11865088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556142269	chr18:11865096-11865097	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547258005	chr18:11865128-11865129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2855643	chr18:11865137-11865138	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141420444	chr18:11865153-11865154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2855644	chr18:11865155-11865156	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183963184	chr18:11865160-11865161	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186996168	chr18:11865161-11865162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150812748	chr18:11865177-11865178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs80121647	chr18:11865194-11865195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539379328	chr18:11865198-11865199	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557785588	chr18:11865199-11865200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs571876687	chr18:11865208-11865209	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200567490	chr18:11865234-11865235	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3837887	chr18:11865236-11865237	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191817980	chr18:11865253-11865254	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532184058	chr18:11865260-11865261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543491750	chr18:11865289-11865290	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547653935	chr18:11865292-11865293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs787557	chr18:11865303-11865304	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138212555	chr18:11865386-11865387	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143106229	chr18:11865387-11865388	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7236209	chr18:11865407-11865408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62097394	chr18:11865422-11865423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115168919	chr18:11865423-11865424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571294179	chr18:11865487-11865488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538687121	chr18:11865489-11865490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114009726	chr18:11865492-11865493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146149598	chr18:11865508-11865509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184396921	chr18:11865552-11865553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140142580	chr18:11865569-11865570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199620051	chr18:11865587-11865588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532125830	chr18:11865588-11865589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551884032	chr18:11865603-11865604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79779122	chr18:11865604-11865605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76770515	chr18:11865606-11865607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375698808	chr18:11865755-11865756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576756093	chr18:11865765-11865766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2586216	chr18:11865776-11865777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2586215	chr18:11865777-11865778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189152438	chr18:11865805-11865806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543534228	chr18:11865828-11865829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs787558	chr18:11865878-11865879	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2859542	chr18:11865892-11865893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554161591	chr18:11865895-11865896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548869626	chr18:11865902-11865903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181840695	chr18:11865928-11865929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368070248	chr18:11865948-11865949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111926890	chr18:11865966-11865967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10468682	chr18:11865985-11865986	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
abnormal development	18461090	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	20435627	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
4	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
8	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
9	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
10	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
11	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
12	chr18:11857800-11866000	Weak transcription	Brain Anterior Caudate	brain
13	chr18:11857800-11867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:11857800-11868400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
16	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:11858000-11868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:11858000-11868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
20	chr18:11858600-11868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
23	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:11859600-11866600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:11860800-11865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:11860800-11868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
31	chr18:11861600-11873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:11861800-11872600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
34	chr18:11862000-11865200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:11862400-11871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
37	chr18:11862600-11872000	Weak transcription	Hela-S3	cervix
38	chr18:11862800-11865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:11864400-11867400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:11864600-11867400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:11865000-11866400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr18:11865000-11870200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:11865200-11865400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:11865400-11865800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:11865400-11868200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:11865400-11874200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:11865800-11872400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:11866000-11867000	Strong transcription	Brain Anterior Caudate	brain
49	chr18:11866400-11873400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:11866600-11867200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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