Variant report

Variant	esv1827877
Chromosome Location	chr18:13511622-13523462
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	BHLHE40	chr18:13521620-13521814	K562	blood:	n/a	chr18:13521675-13521684 chr18:13521675-13521684 chr18:13521673-13521686 chr18:13521676-13521685 chr18:13521669-13521690
2	CEBPB	chr18:13513024-13513258	HepG2	liver:	n/a	n/a
3	CTCF	chr18:13523200-13523350	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr18:13523347-13523378	MCF-7	breast:	n/a	n/a
5	CTCF	chr18:13517360-13517510	GM12874	blood:	n/a	n/a
6	CTCF	chr18:13523317-13523375	Fibrobl	skin:	n/a	n/a
7	CTCF	chr18:13518820-13518970	GM06990	blood:	n/a	n/a
8	CTCF	chr18:13523270-13523403	GM19238	blood:	n/a	n/a
9	CTCF	chr18:13523335-13523384	Gliobla	brain:	n/a	n/a
10	CTCF	chr18:13523282-13523394	GM12892	blood:	n/a	n/a
11	CTCF	chr18:13523344-13523380	MCF-7	breast:	n/a	n/a
12	CTCF	chr18:13523300-13523450	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr18:13523260-13523410	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr18:13523311-13523416	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr18:13523329-13523384	GM19240	blood:	n/a	n/a
16	CTCF	chr18:13523311-13523391	GM19239	blood:	n/a	n/a
17	ELK1	chr18:13515429-13515473	GM12878	blood:	n/a	n/a
18	EP300	chr18:13513254-13513362	HepG2	liver:	n/a	n/a
19	ESR1	chr18:13512919-13513381	ECC-1	luminal epithelium:	n/a	n/a
20	FOXA1	chr18:13520256-13520515	A549	lung:	n/a	n/a
21	GATA1	chr18:13521759-13522770	PBDE	blood:	n/a	chr18:13521862-13521873
22	GATA3	chr18:13512889-13513444	MCF-7	breast:	n/a	n/a
23	HDAC2	chr18:13512995-13513448	MCF-7	breast:	n/a	n/a
24	JUND	chr18:13513253-13513337	H1-hESC	embryonic stem cell:	n/a	n/a
25	KAP1	chr18:13513082-13513476	HEK293	kidney:	n/a	n/a
26	MAFK	chr18:13518934-13518981	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr18:13522684-13522912	HepG2	liver:	n/a	chr18:13522828-13522839 chr18:13522828-13522839
28	MAX	chr18:13513161-13513324	HepG2	liver:	n/a	n/a
29	MXI1	chr18:13513114-13513379	HepG2	liver:	n/a	n/a
30	MYC	chr18:13513082-13513269	MCF-7	breast:	n/a	n/a
31	NR2F2	chr18:13512901-13513360	MCF-7	breast:	n/a	n/a
32	NR2F2	chr18:13512920-13513448	MCF-7	breast:	n/a	n/a
33	NR3C1	chr18:13520310-13520649	A549	lung:	n/a	chr18:13520460-13520474 chr18:13520459-13520475 chr18:13520459-13520474 chr18:13520459-13520475 chr18:13520460-13520474 chr18:13520459-13520475
34	NR3C1	chr18:13520354-13520664	A549	lung:	n/a	chr18:13520460-13520474 chr18:13520459-13520475 chr18:13520459-13520474 chr18:13520459-13520475 chr18:13520460-13520474 chr18:13520459-13520475
35	NR3C1	chr18:13520299-13520641	A549	lung:	n/a	chr18:13520460-13520474 chr18:13520459-13520475 chr18:13520459-13520474 chr18:13520459-13520475 chr18:13520460-13520474 chr18:13520459-13520475
36	NR3C1	chr18:13520333-13520530	A549	lung:	n/a	chr18:13520460-13520474 chr18:13520459-13520475 chr18:13520459-13520474 chr18:13520459-13520475 chr18:13520460-13520474 chr18:13520459-13520475
37	NRF1	chr18:13522540-13522570	GM12878	blood:	n/a	n/a
38	POLR2A	chr18:13511840-13511995	MCF-7	breast:	n/a	n/a
39	RAD21	chr18:13513142-13513362	HepG2	liver:	n/a	n/a
40	RAD21	chr18:13523160-13523496	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr18:13523176-13523430	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr18:13523166-13523462	SK-N-SH_RA	brain:	n/a	n/a
43	RAD21	chr18:13523082-13523465	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr18:13523246-13523458	HepG2	liver:	n/a	n/a
45	RFX5	chr18:13513152-13513314	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr18:13512872-13513466	MCF-7	breast:	n/a	n/a
47	SIN3AK20	chr18:13512893-13513662	MCF-7	breast:	n/a	n/a
48	SMC3	chr18:13513142-13513399	HepG2	liver:	n/a	n/a
49	STAT3	chr18:13522638-13522812	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF7L2	chr18:13512973-13513361	MCF-7	breast:	n/a	chr18:13513159-13513173

No.	Distal block	Cell Line	Cell type
1	chr18:13512015..13513700-chr18:13517381..13520375,2	K562	blood:
2	chr18:13511966..13515054-chr18:13522096..13525894,4	MCF-7	breast:
3	chr18:13513801..13516258-chr18:13517871..13519966,2	MCF-7	breast:
4	chr18:13512667..13513718-chr18:13539667..13540492,6	MCF-7	breast:
5	chr18:13512015..13513700-chr18:13517381..13520375,2	K562	blood:
6	chr18:13394633..13395136-chr18:13512875..13513568,2	MCF-7	breast:
7	chr18:13513143..13515699-chr18:13615658..13618588,2	MCF-7	breast:
8	chr18:12989904..12992795-chr18:13513289..13515032,2	MCF-7	breast:
9	chr18:13514493..13516094-chr18:13537617..13539462,2	MCF-7	breast:
10	chr18:13513801..13516258-chr18:13517871..13519966,2	MCF-7	breast:
11	chr18:13514331..13515883-chr18:13541189..13543020,2	MCF-7	breast:
12	chr18:13504939..13506992-chr18:13515304..13518121,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM210A-4	chr18:13519731-13522887	ENSG00000267136.1
2	lnc-FAM210A-4	chr18:13514519-13516106	ENSG00000267136.1
3	lnc-RNMT-4	chr18:13519726-13522887	NONHSAT058443
4	lnc-RNMT-4	chr18:13514519-13516102	NONHSAT058443

Variant related genes	Relation type
ENSG00000267136	TF binding region
ENSG00000272746	TF binding region
ENSG00000101639	chromatin interactions
ENSG00000168675	chromatin interactions
ENSG00000267136	chromatin interactions
ENSG00000266969	chromatin interactions

Extended variants
information (count: 494 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9955173	chr18:13511622-13511623	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73425676	chr18:13511698-13511699	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544241523	chr18:13511717-13511718	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2847113	chr18:13511718-13511719	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2847114	chr18:13511721-13511722	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57670234	chr18:13511722-13511723	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116553049	chr18:13511732-13511733	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148070576	chr18:13511737-13511738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549071801	chr18:13511742-13511743	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187878658	chr18:13511749-13511750	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141790574	chr18:13511770-13511771	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193172751	chr18:13511786-13511787	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150575834	chr18:13511799-13511800	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4121593	chr18:13511819-13511820	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4121594	chr18:13511842-13511843	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185023400	chr18:13511880-13511881	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533999558	chr18:13511946-13511947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190650426	chr18:13511959-13511960	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567703542	chr18:13511985-13511986	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58712291	chr18:13512003-13512004	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12955640	chr18:13512012-13512013	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577484199	chr18:13512015-13512016	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193150064	chr18:13512036-13512037	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553644615	chr18:13512042-13512043	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139932047	chr18:13512043-13512044	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542502938	chr18:13512049-13512050	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369242335	chr18:13512088-13512089	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531469934	chr18:13512115-13512116	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184882089	chr18:13512164-13512165	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9957909	chr18:13512179-13512180	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372406816	chr18:13512222-13512223	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35798395	chr18:13512227-13512228	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544542175	chr18:13512236-13512237	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1785205	chr18:13512266-13512267	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188423277	chr18:13512285-13512286	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565187986	chr18:13512307-13512308	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1785151	chr18:13512322-13512323	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549341516	chr18:13512332-13512333	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567386192	chr18:13512344-13512345	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12326936	chr18:13512384-13512385	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs180780773	chr18:13512398-13512399	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71353273	chr18:13512456-13512457	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147672897	chr18:13512485-13512486	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112403300	chr18:13512507-13512508	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538686642	chr18:13512619-13512620	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79475961	chr18:13512639-13512640	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527812003	chr18:13512658-13512659	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78602884	chr18:13512689-13512690	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554484137	chr18:13512697-13512698	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576179169	chr18:13512700-13512701	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 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:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:13499600-13539200	Weak transcription	Gastric	stomach
3	chr18:13499800-13514200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:13500000-13516800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:13500400-13517400	Weak transcription	Spleen	Spleen
7	chr18:13501400-13518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:13501600-13525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:13502800-13525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:13503000-13517000	Weak transcription	Adipose Nuclei	Adipose
12	chr18:13503000-13519200	Weak transcription	Pancreas	Pancrea
13	chr18:13503200-13511800	Weak transcription	Brain Anterior Caudate	brain
14	chr18:13503200-13514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr18:13503200-13517200	Weak transcription	Fetal Lung	lung
16	chr18:13503200-13521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:13503400-13512200	Weak transcription	Liver	Liver
18	chr18:13503400-13517400	Weak transcription	Aorta	Aorta
19	chr18:13503800-13512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:13506000-13515600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr18:13507000-13511800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr18:13507000-13511800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr18:13507000-13516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:13507000-13536400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:13508200-13512000	Enhancers	Psoas Muscle	Psoas
27	chr18:13509000-13511800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr18:13509400-13512000	Weak transcription	Primary B cells from cord blood	blood
29	chr18:13509400-13513000	Weak transcription	Left Ventricle	heart
30	chr18:13509400-13513000	Weak transcription	Right Atrium	heart
31	chr18:13510200-13513600	Enhancers	Primary T cells from cord blood	blood
32	chr18:13510200-13515600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr18:13510600-13514000	Enhancers	Fetal Heart	heart
34	chr18:13510800-13512400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:13510800-13513000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:13510800-13514200	Enhancers	Primary hematopoietic stem cells	blood
37	chr18:13511000-13512000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr18:13511000-13513800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr18:13511000-13514000	Genic enhancers	Fetal Thymus	thymus
40	chr18:13511000-13514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:13511000-13515000	Enhancers	Fetal Muscle Leg	muscle
42	chr18:13511200-13512800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr18:13511200-13512800	Weak transcription	Dnd41	blood
44	chr18:13511200-13513000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr18:13511200-13513200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr18:13511200-13513200	Enhancers	Thymus	Thymus
47	chr18:13511400-13513000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr18:13511600-13512000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr18:13511600-13512400	Enhancers	HUVEC	blood vessel
50	chr18:13511600-13512600	Enhancers	Primary B cells from peripheral blood	blood

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