Variant report

Variant	esv1803268
Chromosome Location	chr18:13143415-13175903
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	ARID3A	chr18:13145831-13146306	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:13175761-13176225	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:13159780-13159939	K562	blood:	n/a	n/a
4	ARID3A	chr18:13146764-13146811	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:13147063-13147391	HepG2	liver:	n/a	n/a
6	ARID3A	chr18:13175283-13175387	HepG2	liver:	n/a	n/a
7	BHLHE40	chr18:13174570-13174756	K562	blood:	n/a	n/a
8	BHLHE40	chr18:13159558-13159843	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:13147379-13147577	GM12878	blood:	n/a	n/a
10	BHLHE40	chr18:13159608-13159808	K562	blood:	n/a	n/a
11	BHLHE40	chr18:13175802-13176217	HepG2	liver:	n/a	n/a
12	CEBPB	chr18:13159554-13159805	K562	blood:	n/a	n/a
13	CEBPB	chr18:13175706-13176225	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:13175759-13176249	HepG2	liver:	n/a	n/a
15	CEBPB	chr18:13175766-13176224	HepG2	liver:	n/a	n/a
16	CEBPB	chr18:13175790-13176152	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:13147123-13147422	HepG2	liver:	n/a	n/a
18	CEBPD	chr18:13175787-13176167	HepG2	liver:	n/a	n/a
19	CEBPD	chr18:13175809-13176156	HepG2	liver:	n/a	n/a
20	CHD2	chr18:13150040-13150120	K562	blood:	n/a	n/a
21	CHD2	chr18:13147327-13147476	GM12878	blood:	n/a	n/a
22	CHD2	chr18:13175832-13176149	HepG2	liver:	n/a	n/a
23	CREB1	chr18:13175715-13176325	HepG2	liver:	n/a	n/a
24	CREB1	chr18:13175621-13176386	HepG2	liver:	n/a	n/a
25	CTCF	chr18:13159580-13159730	RPTEC	kidney:	n/a	chr18:13159670-13159691
26	CTCF	chr18:13159620-13159770	A549	lung:	n/a	chr18:13159670-13159691
27	CTCF	chr18:13160420-13160570	GM12873	blood:	n/a	chr18:13160530-13160543
28	CTCF	chr18:13159594-13159829	Kidney_OC	kidney:	n/a	chr18:13159670-13159691
29	CTCF	chr18:13159640-13159790	HCM	heart:	n/a	chr18:13159670-13159691
30	CTCF	chr18:13159620-13159770	AoAF	blood vessel:	n/a	chr18:13159670-13159691
31	CTCF	chr18:13159560-13159710	GM12872	blood:	n/a	chr18:13159670-13159691
32	CTCF	chr18:13159620-13159770	K562	blood:	n/a	chr18:13159670-13159691
33	CTCF	chr18:13159620-13159770	HPF	lung:	n/a	chr18:13159670-13159691
34	CTCF	chr18:13159486-13159819	A549	lung:	n/a	chr18:13159670-13159691
35	CTCF	chr18:13159620-13159770	HMEC	breast:	n/a	chr18:13159670-13159691
36	CTCF	chr18:13159640-13159790	SAEC	small airway:	n/a	chr18:13159670-13159691
37	CTCF	chr18:13159569-13159795	GM19238	blood:	n/a	chr18:13159670-13159691
38	CTCF	chr18:13159600-13159750	HCPEpiC	choroid plexus:	n/a	chr18:13159670-13159691
39	CTCF	chr18:13159589-13159793	A549	lung:	n/a	chr18:13159670-13159691
40	CTCF	chr18:13159475-13159720	A549	lung:	n/a	chr18:13159670-13159691
41	CTCF	chr18:13159643-13159803	Fibrobl	skin:	n/a	chr18:13159670-13159691
42	CTCF	chr18:13159580-13159730	GM12865	blood:	n/a	chr18:13159670-13159691
43	CTCF	chr18:13159597-13159802	Hela-S3	cervix:	n/a	chr18:13159670-13159691
44	CTCF	chr18:13159640-13159790	HRPEpiC	eye:	n/a	chr18:13159670-13159691
45	CTCF	chr18:13159620-13159770	WERI-Rb-1	eye:	n/a	chr18:13159670-13159691
46	CTCF	chr18:13159640-13159790	HRE	kidney:	n/a	chr18:13159670-13159691
47	CTCF	chr18:13159872-13159874	GM10266	blood:	n/a	n/a
48	CTCF	chr18:13159620-13159770	HRE	kidney:	n/a	chr18:13159670-13159691
49	CTCF	chr18:13159556-13159835	Gliobla	brain:	n/a	chr18:13159670-13159691
50	CTCF	chr18:13159531-13159834	LNCaP	prostate:	n/a	chr18:13159670-13159691

No.	Distal block	Cell Line	Cell type
1	chr18:13134910..13136836-chr18:13149613..13152006,2	K562	blood:
2	chr18:13164284..13166832-chr18:13216296..13217801,2	MCF-7	breast:
3	chr18:13164197..13166888-chr18:13540457..13542003,2	MCF-7	breast:
4	chr18:13163901..13166244-chr18:13174372..13176676,2	MCF-7	breast:
5	chr18:13164662..13166690-chr18:13216328..13218952,2	MCF-7	breast:
6	chr18:13133544..13136413-chr18:13146335..13148164,2	K562	blood:
7	chr18:13163901..13166244-chr18:13174372..13176676,2	MCF-7	breast:
8	chr18:13163506..13166170-chr18:13214785..13216310,2	MCF-7	breast:
9	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
10	chr18:13164019..13166595-chr18:13378165..13380811,2	MCF-7	breast:
11	chr18:13003482..13003984-chr18:13159276..13159829,2	K562	blood:
12	chr18:13142218..13144930-chr18:13215209..13217622,2	MCF-7	breast:
13	chr18:13158359..13159942-chr18:13215796..13217806,2	MCF-7	breast:
14	chr18:13141699..13142727-chr18:13159347..13160164,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN2-8	chr18:13151636-13152688	NONHSAT058415
2	lnc-CEP192-1	chr18:13144126-13144176	NONHSAT058414

Variant related genes	Relation type
ENSG00000267656	TF binding region
ENSG00000267032	TF binding region
ENSG00000267239	chromatin interactions
ENSG00000168675	chromatin interactions

Extended variants
information (count: 1088 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71889105	chr18:13143471-13143472	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369790224	chr18:13143636-13143637	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76609666	chr18:13143720-13143721	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73421667	chr18:13143721-13143722	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549276679	chr18:13143738-13143739	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs486976	chr18:13143741-13143742	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531196797	chr18:13143804-13143805	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549854907	chr18:13143838-13143839	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs571205030	chr18:13143872-13143873	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs540043427	chr18:13143918-13143919	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558105863	chr18:13143933-13143934	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534270659	chr18:13143942-13143943	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs376953772	chr18:13143943-13143944	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139606673	chr18:13143998-13143999	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs144257961	chr18:13144009-13144010	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs146553188	chr18:13144054-13144055	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556640088	chr18:13144150-13144151	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs199907819	chr18:13144157-13144158	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs7232003	chr18:13144171-13144172	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560417041	chr18:13144174-13144175	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs374436077	chr18:13144191-13144192	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs73404604	chr18:13144206-13144207	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542982473	chr18:13144241-13144242	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs370581817	chr18:13144249-13144250	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs377318758	chr18:13144312-13144313	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561123951	chr18:13144332-13144333	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531338523	chr18:13144349-13144350	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs549480013	chr18:13144350-13144351	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141167613	chr18:13144373-13144374	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547089719	chr18:13144442-13144443	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1786978	chr18:13144443-13144444	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs11659468	chr18:13144445-13144446	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149854307	chr18:13144458-13144459	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188229611	chr18:13144495-13144496	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556317312	chr18:13144537-13144538	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577946703	chr18:13144544-13144545	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs193187191	chr18:13144554-13144555	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575946767	chr18:13144562-13144563	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554297302	chr18:13144590-13144591	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183297340	chr18:13144648-13144649	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs564029179	chr18:13144655-13144656	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112271496	chr18:13144694-13144695	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111906150	chr18:13144736-13144737	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573423205	chr18:13144740-13144741	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576295617	chr18:13144753-13144754	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371414058	chr18:13144781-13144782	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543683303	chr18:13144797-13144798	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377465678	chr18:13144799-13144800	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183637190	chr18:13144833-13144834	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs75913373	chr18:13144836-13144837	Weak transcription ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
3	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
4	chr18:13138800-13143800	Weak transcription	Spleen	Spleen
5	chr18:13138800-13144200	Weak transcription	Thymus	Thymus
6	chr18:13143200-13145200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr18:13143400-13143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr18:13144000-13144600	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr18:13144200-13144600	ZNF genes & repeats	Pancreas	Pancrea
10	chr18:13144200-13144600	ZNF genes & repeats	Thymus	Thymus
11	chr18:13144200-13144800	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr18:13144600-13147200	Weak transcription	Thymus	Thymus
13	chr18:13144800-13151600	Weak transcription	Psoas Muscle	Psoas
14	chr18:13145200-13147200	Weak transcription	Adipose Nuclei	Adipose
15	chr18:13145200-13148600	Enhancers	HepG2	liver
16	chr18:13145800-13146000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:13146600-13147000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:13147000-13147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:13147200-13147400	Enhancers	Thymus	Thymus
20	chr18:13147200-13147600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:13147200-13147800	Enhancers	Adipose Nuclei	Adipose
22	chr18:13147200-13147800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr18:13147400-13147800	Enhancers	GM12878-XiMat	blood
24	chr18:13147400-13148000	Enhancers	HSMM	muscle
25	chr18:13157000-13158200	ZNF genes & repeats	Aorta	Aorta
26	chr18:13157800-13158000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:13157800-13158800	ZNF genes & repeats	Dnd41	blood
28	chr18:13158000-13165800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:13158800-13159400	Weak transcription	Dnd41	blood
30	chr18:13159400-13159600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr18:13159400-13159600	Enhancers	Osteobl	bone
32	chr18:13159400-13160000	Enhancers	Fetal Thymus	thymus
33	chr18:13159400-13160000	Enhancers	HepG2	liver
34	chr18:13159400-13160200	Enhancers	Dnd41	blood
35	chr18:13159600-13163400	Weak transcription	Osteobl	bone
36	chr18:13159800-13160000	Enhancers	Thymus	Thymus
37	chr18:13160000-13160200	Weak transcription	Thymus	Thymus
38	chr18:13160000-13160600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:13160000-13161800	Weak transcription	HepG2	liver
40	chr18:13160200-13160600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:13160200-13160600	ZNF genes & repeats	Thymus	Thymus
42	chr18:13160400-13160600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:13160600-13162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:13160600-13173400	Weak transcription	Thymus	Thymus
45	chr18:13161000-13161200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr18:13161200-13161600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr18:13161200-13162200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr18:13161600-13161800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr18:13161800-13162000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr18:13161800-13162000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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