Variant report

Variant	esv3316473
Chromosome Location	chr18:9324086-9327367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9320913..9322639-chr18:9326828..9329816,2	K562	blood:
2	chr18:9315114..9319116-chr18:9321910..9324742,4	K562	blood:
3	chr18:9324675..9326471-chr18:9332676..9335507,2	K562	blood:
4	chr18:9321590..9324393-chr18:9335176..9336771,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-15	chr18:9324135-9324468	l_1521_chr18:9281108-9324468_testes

Variant related genes	Relation type
ENSG00000264964	chromatin interactions
ENSG00000128791	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185103509	chr18:9324155-9324156	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547439426	chr18:9324176-9324177	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs565634612	chr18:9324177-9324178	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs536232677	chr18:9324227-9324228	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538754306	chr18:9324269-9324270	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs57292829	chr18:9324321-9324322	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569907242	chr18:9324413-9324414	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201754411	chr18:9324414-9324415	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs189681097	chr18:9324419-9324420	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs57848682	chr18:9324422-9324423	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs576946139	chr18:9324461-9324462	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140047559	chr18:9324472-9324473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551479180	chr18:9324480-9324481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8082834	chr18:9324483-9324484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs542205165	chr18:9324515-9324516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571398766	chr18:9324540-9324541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181164905	chr18:9324557-9324558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184073405	chr18:9324598-9324599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143578677	chr18:9324621-9324622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570615111	chr18:9324647-9324648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376222628	chr18:9324730-9324731	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145610306	chr18:9324780-9324781	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150814183	chr18:9324827-9324828	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547553460	chr18:9324832-9324833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139308161	chr18:9324839-9324840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs72943173	chr18:9324870-9324871	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150002368	chr18:9324933-9324934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569866322	chr18:9325060-9325061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537324503	chr18:9325069-9325070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558332401	chr18:9325076-9325077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574535186	chr18:9325083-9325084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543599259	chr18:9325084-9325085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557193774	chr18:9325114-9325115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576984833	chr18:9325118-9325119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145362573	chr18:9325131-9325132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199756140	chr18:9325144-9325145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142524098	chr18:9325151-9325152	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200682650	chr18:9325161-9325162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145910491	chr18:9325162-9325163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553098893	chr18:9325200-9325201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs80171406	chr18:9325258-9325259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200760377	chr18:9325272-9325273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs397687362	chr18:9325274-9325275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574854554	chr18:9325281-9325282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12956407	chr18:9325291-9325292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs533887954	chr18:9325327-9325328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1941017	chr18:9325359-9325360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs373608254	chr18:9325377-9325378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs77785718	chr18:9325426-9325427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188457561	chr18:9325439-9325440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9320000-9324600	Enhancers	HUVEC	blood vessel
2	chr18:9320200-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9320600-9333400	Weak transcription	Aorta	Aorta
4	chr18:9321000-9325800	Weak transcription	Placenta	Placenta
5	chr18:9321800-9333600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:9321800-9333600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:9322800-9324800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:9323000-9324200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9323000-9328200	Weak transcription	Fetal Lung	lung
10	chr18:9323200-9324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:9323400-9324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:9323400-9324800	Enhancers	HSMM	muscle
13	chr18:9323600-9324400	Enhancers	NHDF-Ad	bronchial
14	chr18:9323800-9324200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:9323800-9324200	Enhancers	NH-A	brain
16	chr18:9323800-9324400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:9323800-9324400	Enhancers	NHLF	lung
18	chr18:9323800-9324400	Enhancers	Osteobl	bone
19	chr18:9323800-9324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:9324000-9324400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr18:9324000-9324400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9324000-9324600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9324000-9324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr18:9324000-9324600	Enhancers	HMEC	breast
25	chr18:9324000-9324600	Enhancers	NHEK	skin
26	chr18:9324200-9324400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr18:9324400-9333400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:9324600-9329400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:9324600-9334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:9324800-9328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:9325800-9327400	Enhancers	Placenta	Placenta

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