Variant report

Variant	esv3355446
Chromosome Location	chr18:7247456-7254814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7251040..7252681-chr18:7255832..7258659,2	K562	blood:

Extended variants
information (count: 346 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554150182	chr18:7247472-7247473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9948672	chr18:7247474-7247475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373707491	chr18:7247478-7247479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35806894	chr18:7247496-7247497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370749813	chr18:7247497-7247498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182917451	chr18:7247543-7247544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188078304	chr18:7247605-7247606	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118058747	chr18:7247606-7247607	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541937183	chr18:7247634-7247635	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557501024	chr18:7247682-7247683	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192785389	chr18:7247684-7247685	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117710091	chr18:7247751-7247752	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184404884	chr18:7247768-7247769	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187686961	chr18:7247798-7247799	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532685829	chr18:7247799-7247800	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552562238	chr18:7247800-7247801	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569269966	chr18:7247801-7247802	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573129474	chr18:7247842-7247843	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571239579	chr18:7247890-7247891	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7232839	chr18:7247894-7247895	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536645428	chr18:7247928-7247929	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568558452	chr18:7247932-7247933	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542041192	chr18:7248060-7248061	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554013891	chr18:7248072-7248073	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7236884	chr18:7248081-7248082	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539753628	chr18:7248091-7248092	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562012376	chr18:7248138-7248139	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573486470	chr18:7248178-7248179	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191507866	chr18:7248220-7248221	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184768610	chr18:7248250-7248251	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554899614	chr18:7248263-7248264	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113420508	chr18:7248291-7248292	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374989417	chr18:7248301-7248302	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540694888	chr18:7248308-7248309	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9952578	chr18:7248346-7248347	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189494893	chr18:7248363-7248364	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113204535	chr18:7248372-7248373	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546506316	chr18:7248374-7248375	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117483326	chr18:7248404-7248405	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575815984	chr18:7248419-7248420	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8092741	chr18:7248439-7248440	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564168046	chr18:7248447-7248448	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139956263	chr18:7248450-7248451	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568417568	chr18:7248460-7248461	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8096986	chr18:7248478-7248479	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547878767	chr18:7248479-7248480	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78862377	chr18:7248503-7248504	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531120646	chr18:7248576-7248577	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143508602	chr18:7248600-7248601	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369834558	chr18:7248604-7248605	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7238200-7247800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:7238200-7249800	Weak transcription	Left Ventricle	heart
3	chr18:7238600-7248200	Weak transcription	Fetal Heart	heart
4	chr18:7240600-7247800	Weak transcription	Psoas Muscle	Psoas
5	chr18:7246600-7247600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:7246600-7247600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:7247600-7248400	Enhancers	Fetal Muscle Trunk	muscle
8	chr18:7247600-7248800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr18:7247600-7250400	Enhancers	Fetal Muscle Leg	muscle
10	chr18:7247600-7250400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:7247800-7248000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:7247800-7248200	Enhancers	Spleen	Spleen
13	chr18:7247800-7248800	Enhancers	Right Atrium	heart
14	chr18:7247800-7249800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:7247800-7250000	Enhancers	Psoas Muscle	Psoas
16	chr18:7247800-7250400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:7247800-7250400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr18:7247800-7250400	Enhancers	Fetal Stomach	stomach
19	chr18:7248000-7248200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:7248000-7248200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:7248000-7248400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr18:7248000-7248800	Enhancers	Gastric	stomach
23	chr18:7248000-7250000	Enhancers	Right Ventricle	heart
24	chr18:7248000-7250400	Enhancers	Fetal Lung	lung
25	chr18:7248200-7248400	Enhancers	Fetal Heart	heart
26	chr18:7248200-7249000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7248200-7249400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:7248200-7250000	Enhancers	Fetal Brain Male	brain
29	chr18:7248200-7252600	Weak transcription	Spleen	Spleen
30	chr18:7248400-7248600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:7248400-7248800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr18:7248400-7249200	Weak transcription	Fetal Heart	heart
33	chr18:7248400-7249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:7248400-7249600	Enhancers	Adipose Nuclei	Adipose
35	chr18:7248400-7250400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:7248400-7250400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:7248600-7249800	Enhancers	Fetal Brain Female	brain
38	chr18:7248600-7250000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:7248800-7249200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:7248800-7249200	Enhancers	Fetal Muscle Trunk	muscle
41	chr18:7248800-7249400	Weak transcription	Right Atrium	heart
42	chr18:7248800-7250000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:7248800-7250200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr18:7249000-7250400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:7249200-7249600	Enhancers	Stomach Smooth Muscle	stomach
46	chr18:7249200-7250000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:7249200-7250000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr18:7249200-7250400	Enhancers	Fetal Heart	heart
49	chr18:7249400-7250400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:7249600-7249800	Enhancers	HUES64 Cell Line	embryonic stem cell

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