Variant report

Variant	esv2534756
Chromosome Location	chr18:13142662-13144576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr18:13142766-13143069	HepG2	liver:	n/a	n/a
2	FOXA1	chr18:13142780-13143076	HepG2	liver:	n/a	n/a
3	FOXA1	chr18:13142660-13143140	HepG2	liver:	n/a	n/a
4	FOXA2	chr18:13142746-13143016	HepG2	liver:	n/a	n/a
5	POLR2A	chr18:13142967-13143027	K562	blood:	n/a	n/a
6	SETDB1	chr18:13143783-13144366	U2OS	brain:	n/a	n/a
7	SMC3	chr18:13142864-13142881	HepG2	liver:	n/a	n/a
8	TAL1	chr18:13142970-13143037	K562	blood:	n/a	chr18:13142976-13142994

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:13139784..13142937-chr18:13215706..13218370,3	MCF-7	breast:
2	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
3	chr18:13142218..13144930-chr18:13215209..13217622,2	MCF-7	breast:
4	chr18:13141699..13142727-chr18:13159347..13160164,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP192-1	chr18:13144126-13144176	NONHSAT058414

No data

Variant related genes	Relation type
ENSG00000267656	TF binding region
ENSG00000168675	chromatin interactions
ENSG00000267239	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67996007	chr18:13142682-13142683	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72877641	chr18:13142720-13142721	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575725359	chr18:13142727-13142728	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs116976691	chr18:13142728-13142729	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540146403	chr18:13142766-13142767	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs182364571	chr18:13142793-13142794	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540209080	chr18:13142854-13142855	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs9303780	chr18:13142855-13142856	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529384034	chr18:13142857-13142858	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs137879617	chr18:13142894-13142895	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs10164085	chr18:13142934-13142935	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144103640	chr18:13142969-13142970	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs185445223	chr18:13143018-13143019	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566602555	chr18:13143038-13143039	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527305815	chr18:13143039-13143040	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs190980533	chr18:13143053-13143054	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548964242	chr18:13143056-13143057	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs148675669	chr18:13143065-13143066	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142165286	chr18:13143066-13143067	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs555980316	chr18:13143069-13143070	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569473540	chr18:13143077-13143078	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs539603470	chr18:13143103-13143104	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558427919	chr18:13143113-13143114	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573169595	chr18:13143122-13143123	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570070655	chr18:13143135-13143136	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370325071	chr18:13143170-13143171	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540511797	chr18:13143178-13143179	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs492458	chr18:13143192-13143193	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs573696086	chr18:13143193-13143194	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556259858	chr18:13143242-13143243	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs59319926	chr18:13143304-13143305	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562801972	chr18:13143347-13143348	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150858839	chr18:13143380-13143381	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183345611	chr18:13143387-13143388	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71889105	chr18:13143471-13143472	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369790224	chr18:13143636-13143637	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76609666	chr18:13143720-13143721	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs73421667	chr18:13143721-13143722	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549276679	chr18:13143738-13143739	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs486976	chr18:13143741-13143742	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531196797	chr18:13143804-13143805	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs549854907	chr18:13143838-13143839	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs571205030	chr18:13143872-13143873	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs540043427	chr18:13143918-13143919	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs558105863	chr18:13143933-13143934	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534270659	chr18:13143942-13143943	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs376953772	chr18:13143943-13143944	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs139606673	chr18:13143998-13143999	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs144257961	chr18:13144009-13144010	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146553188	chr18:13144054-13144055	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:13138000-13142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
4	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
5	chr18:13138800-13143200	Weak transcription	Adipose Nuclei	Adipose
6	chr18:13138800-13143800	Weak transcription	Spleen	Spleen
7	chr18:13138800-13144200	Weak transcription	Thymus	Thymus
8	chr18:13141400-13143200	Enhancers	HepG2	liver
9	chr18:13142800-13143200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:13143200-13145200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr18:13143400-13143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr18:13144000-13144600	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr18:13144200-13144600	ZNF genes & repeats	Pancreas	Pancrea
14	chr18:13144200-13144600	ZNF genes & repeats	Thymus	Thymus
15	chr18:13144200-13144800	ZNF genes & repeats	Psoas Muscle	Psoas

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