Variant report

Variant	esv2034781
Chromosome Location	chr18:11918328-11918904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr18:11917933-11918366	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPPE1-1	chr18:11918850-11918913	XLOC_012771

Variant related genes	Relation type
ENSG00000267079	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544579941	chr18:11918350-11918351	Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561278027	chr18:11918375-11918376	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5026079	chr18:11918376-11918377	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531383112	chr18:11918406-11918407	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543636514	chr18:11918411-11918412	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562934888	chr18:11918412-11918413	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9949804	chr18:11918421-11918422	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375101481	chr18:11918422-11918423	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530617414	chr18:11918454-11918455	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551751265	chr18:11918457-11918458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369087177	chr18:11918479-11918480	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193268081	chr18:11918484-11918485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527725345	chr18:11918493-11918494	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549410946	chr18:11918494-11918495	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567980859	chr18:11918499-11918500	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538042335	chr18:11918500-11918501	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561063396	chr18:11918508-11918509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528240309	chr18:11918555-11918556	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185669764	chr18:11918556-11918557	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188097705	chr18:11918557-11918558	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376188959	chr18:11918563-11918564	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8093661	chr18:11918599-11918600	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553311429	chr18:11918603-11918604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181001047	chr18:11918632-11918633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185461392	chr18:11918661-11918662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141051111	chr18:11918714-11918715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368013986	chr18:11918741-11918742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374155810	chr18:11918749-11918750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2848453	chr18:11918750-11918751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543223171	chr18:11918773-11918774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565074529	chr18:11918804-11918805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9962430	chr18:11918865-11918866	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs188569385	chr18:11918867-11918868	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs545507060	chr18:11918882-11918883	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11913800-11920400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:11916800-11918600	Weak transcription	Primary B cells from cord blood	blood
3	chr18:11917400-11921600	Weak transcription	K562	blood
4	chr18:11917800-11921400	Weak transcription	GM12878-XiMat	blood
5	chr18:11918000-11918400	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr18:11918200-11918600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr18:11918400-11918600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr18:11918600-11918800	Enhancers	Primary B cells from cord blood	blood
9	chr18:11918600-11920200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr18:11918600-11920400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr18:11918800-11919600	Weak transcription	Primary B cells from cord blood	blood

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