Variant report

Variant	esv3437323
Chromosome Location	chr18:13141552-13145850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:13145831-13146306	HepG2	liver:	n/a	n/a
2	CTCF	chr18:13142240-13142390	GM06990	blood:	n/a	chr18:13142251-13142259
3	FOXA1	chr18:13142766-13143069	HepG2	liver:	n/a	n/a
4	FOXA1	chr18:13142780-13143076	HepG2	liver:	n/a	n/a
5	FOXA1	chr18:13145761-13146281	HepG2	liver:	n/a	n/a
6	FOXA1	chr18:13145813-13146239	HepG2	liver:	n/a	n/a
7	FOXA1	chr18:13142660-13143140	HepG2	liver:	n/a	n/a
8	FOXA2	chr18:13145842-13146111	HepG2	liver:	n/a	n/a
9	FOXA2	chr18:13142746-13143016	HepG2	liver:	n/a	n/a
10	MAFF	chr18:13145375-13145607	HepG2	liver:	n/a	chr18:13145427-13145445
11	MAFK	chr18:13145308-13145604	HepG2	liver:	n/a	n/a
12	MAFK	chr18:13145326-13145742	HepG2	liver:	n/a	n/a
13	MAX	chr18:13145679-13146031	HepG2	liver:	n/a	n/a
14	MAX	chr18:13145589-13146062	HepG2	liver:	n/a	n/a
15	MXI1	chr18:13145707-13145945	HepG2	liver:	n/a	n/a
16	MYC	chr18:13145752-13145888	HepG2	liver:	n/a	n/a
17	MYC	chr18:13145736-13145750	HepG2	liver:	n/a	n/a
18	POLR2A	chr18:13145140-13145211	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr18:13142244-13142336	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:13142967-13143027	K562	blood:	n/a	n/a
21	SETDB1	chr18:13143783-13144366	U2OS	brain:	n/a	n/a
22	SMC3	chr18:13142864-13142881	HepG2	liver:	n/a	n/a
23	STAT3	chr18:13144937-13145266	MCF10A-Er-Src	breast:	n/a	n/a
24	TAL1	chr18:13142970-13143037	K562	blood:	n/a	chr18:13142976-13142994
25	USF1	chr18:13145651-13145886	HepG2	liver:	n/a	chr18:13145803-13145814
26	USF1	chr18:13145663-13145923	HepG2	liver:	n/a	chr18:13145803-13145814
27	USF2	chr18:13145786-13145893	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF2	chr18:13145674-13145911	HepG2	liver:	n/a	n/a

No data

(count:5 , 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:
5	chr18:13139722..13141913-chr18:13426612..13428353,2	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
ENSG00000267690	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570897255	chr18:13141559-13141560	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534521454	chr18:13141560-13141561	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs72877637	chr18:13141609-13141610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562442858	chr18:13141631-13141632	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567906931	chr18:13141660-13141661	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557770389	chr18:13141675-13141676	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112533772	chr18:13141690-13141691	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199882693	chr18:13141707-13141708	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556819030	chr18:13141714-13141715	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs59874514	chr18:13141718-13141719	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs529942604	chr18:13141726-13141727	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548298757	chr18:13141754-13141755	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568028746	chr18:13141808-13141809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566895011	chr18:13141820-13141821	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372282024	chr18:13141822-13141823	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550571961	chr18:13141823-13141824	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs200718967	chr18:13141825-13141826	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs75691884	chr18:13141827-13141828	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs74177583	chr18:13141829-13141830	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368315755	chr18:13141831-13141832	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs575168766	chr18:13141833-13141834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs7235202	chr18:13141859-13141860	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
23	rs146646121	chr18:13141901-13141902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7236162	chr18:13141904-13141905	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs540319698	chr18:13141907-13141908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7236172	chr18:13141910-13141911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368184806	chr18:13141928-13141929	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552008962	chr18:13141931-13141932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570513081	chr18:13141932-13141933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs58003301	chr18:13141933-13141934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542574506	chr18:13141947-13141948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563937557	chr18:13141952-13141953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531604569	chr18:13141963-13141964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530832601	chr18:13141990-13141991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536778285	chr18:13142053-13142054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552497884	chr18:13142072-13142073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564433319	chr18:13142088-13142089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs528628702	chr18:13142089-13142090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374620583	chr18:13142108-13142109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186548122	chr18:13142116-13142117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567943944	chr18:13142117-13142118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs190329137	chr18:13142126-13142127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs57752549	chr18:13142135-13142136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138594705	chr18:13142168-13142169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71370934	chr18:13142175-13142176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74177584	chr18:13142188-13142189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs33914395	chr18:13142189-13142190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550479547	chr18:13142191-13142192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200570854	chr18:13142192-13142193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140318032	chr18:13142211-13142212	Weak transcription Enhancers	Chromatin interactive region	2 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:21 , 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	chr18:13141400-13141600	Enhancers	Dnd41	blood
9	chr18:13141400-13143200	Enhancers	HepG2	liver
10	chr18:13142800-13143200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:13143200-13145200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr18:13143400-13143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr18:13144000-13144600	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr18:13144200-13144600	ZNF genes & repeats	Pancreas	Pancrea
15	chr18:13144200-13144600	ZNF genes & repeats	Thymus	Thymus
16	chr18:13144200-13144800	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr18:13144600-13147200	Weak transcription	Thymus	Thymus
18	chr18:13144800-13151600	Weak transcription	Psoas Muscle	Psoas
19	chr18:13145200-13147200	Weak transcription	Adipose Nuclei	Adipose
20	chr18:13145200-13148600	Enhancers	HepG2	liver
21	chr18:13145800-13146000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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