Variant report

Variant	esv3344339
Chromosome Location	chr18:7261155-7261532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188971377	chr18:7261174-7261175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62089714	chr18:7261185-7261186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377327600	chr18:7261195-7261196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564849297	chr18:7261199-7261200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530653758	chr18:7261243-7261244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72904183	chr18:7261257-7261258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563952627	chr18:7261275-7261276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181657083	chr18:7261279-7261280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185551272	chr18:7261280-7261281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566246497	chr18:7261293-7261294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9959581	chr18:7261294-7261295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373897120	chr18:7261317-7261318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146662847	chr18:7261319-7261320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191438614	chr18:7261326-7261327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8087671	chr18:7261344-7261345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140260568	chr18:7261380-7261381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567495304	chr18:7261389-7261390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536069487	chr18:7261417-7261418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180848722	chr18:7261453-7261454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186248513	chr18:7261490-7261491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117580179	chr18:7261493-7261494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552573241	chr18:7261497-7261498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566066612	chr18:7261506-7261507	Weak transcription 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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7257600-7263400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:7258000-7263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:7259800-7263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:7260000-7261400	Weak transcription	Psoas Muscle	Psoas
5	chr18:7260000-7263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:7260000-7272600	Weak transcription	Fetal Brain Male	brain
7	chr18:7260200-7261600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:7260400-7261600	Enhancers	Adipose Nuclei	Adipose
9	chr18:7260400-7263200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:7260400-7263400	Weak transcription	Fetal Heart	heart
11	chr18:7260400-7263400	Weak transcription	Left Ventricle	heart
12	chr18:7260400-7263400	Weak transcription	Spleen	Spleen
13	chr18:7260400-7263600	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:7261000-7272600	Weak transcription	Right Atrium	heart
15	chr18:7261400-7261600	Enhancers	Psoas Muscle	Psoas

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