Variant report

Variant	esv3424758
Chromosome Location	chr18:12768452-12772350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12762024..12765968-chr18:12768168..12770948,4	K562	blood:
2	chr18:12320304..12322638-chr18:12766672..12769392,2	K562	blood:
3	chr18:12768832..12771673-chr18:12882650..12885153,2	MCF-7	breast:
4	chr18:12749017..12751850-chr18:12765678..12769408,3	K562	blood:
5	chr18:12749017..12751562-chr18:12765678..12768671,2	K562	blood:
6	chr18:12767228..12769677-chr18:12772403..12775378,2	K562	blood:

Variant related genes	Relation type
ENSG00000267654	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000266961	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533675942	chr18:12768498-12768499	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546769991	chr18:12768584-12768585	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538703644	chr18:12768590-12768591	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568609365	chr18:12768603-12768604	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs367673020	chr18:12768631-12768632	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567488473	chr18:12768636-12768637	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11660234	chr18:12768645-12768646	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575564948	chr18:12768671-12768672	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200545415	chr18:12768683-12768684	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539856637	chr18:12768707-12768708	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529992424	chr18:12768712-12768713	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558215399	chr18:12768737-12768738	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182000776	chr18:12768804-12768805	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75601877	chr18:12768824-12768825	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9948538	chr18:12768831-12768832	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2542144	chr18:12768836-12768837	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573766556	chr18:12768837-12768838	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs9948472	chr18:12768846-12768847	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562664513	chr18:12768995-12768996	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs146375492	chr18:12769019-12769020	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs185819883	chr18:12769029-12769030	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs550947476	chr18:12769049-12769050	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138406750	chr18:12769135-12769136	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs189380283	chr18:12769175-12769176	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs141639106	chr18:12769182-12769183	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs146200125	chr18:12769193-12769194	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs182588399	chr18:12769199-12769200	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs34826416	chr18:12769284-12769285	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs397686628	chr18:12769288-12769289	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs569657222	chr18:12769309-12769310	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541463115	chr18:12769330-12769331	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550080674	chr18:12769335-12769336	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs535692325	chr18:12769339-12769340	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs551219414	chr18:12769341-12769342	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs73414046	chr18:12769362-12769363	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540162687	chr18:12769378-12769379	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs139047034	chr18:12769381-12769382	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9951661	chr18:12769448-12769449	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76488559	chr18:12769475-12769476	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552344327	chr18:12769497-12769498	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149870217	chr18:12769587-12769588	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555584901	chr18:12769637-12769638	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573754041	chr18:12769638-12769639	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544093328	chr18:12769645-12769646	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115114387	chr18:12769724-12769725	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577494362	chr18:12769789-12769790	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569939082	chr18:12769812-12769813	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115831797	chr18:12769834-12769835	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114274008	chr18:12769864-12769865	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143860102	chr18:12769913-12769914	Weak transcription Enhancers Transcr. at gene 5' and 3'	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	20435627	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12750800-12774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr18:12762000-12774800	Weak transcription	Primary T cells from cord blood	blood
3	chr18:12762200-12768800	Weak transcription	HSMMtube	muscle
4	chr18:12763800-12768800	Genic enhancers	Dnd41	blood
5	chr18:12765800-12768800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:12766800-12768600	Flanking Active TSS	HepG2	liver
7	chr18:12767000-12776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:12767400-12768600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:12767400-12768600	Weak transcription	Hela-S3	cervix
10	chr18:12767400-12769200	Genic enhancers	Fetal Thymus	thymus
11	chr18:12767400-12773400	Weak transcription	Thymus	Thymus
12	chr18:12767400-12815800	Weak transcription	Gastric	stomach
13	chr18:12768000-12773800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr18:12768200-12769200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:12768400-12768600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:12768400-12768800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12768600-12769200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr18:12768600-12769200	Enhancers	NHDF-Ad	bronchial
19	chr18:12768600-12770400	Enhancers	Osteobl	bone
20	chr18:12768600-12770600	Enhancers	HepG2	liver
21	chr18:12768600-12770600	Enhancers	HSMM	muscle
22	chr18:12768800-12769000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:12768800-12769200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:12768800-12769200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:12768800-12769400	Enhancers	HSMMtube	muscle
26	chr18:12768800-12770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:12768800-12770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:12768800-12774200	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr18:12769000-12769200	Enhancers	Hela-S3	cervix
30	chr18:12769200-12770200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:12769200-12770200	Enhancers	Fetal Thymus	thymus
32	chr18:12769200-12770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:12769400-12770200	Weak transcription	HSMMtube	muscle
34	chr18:12770000-12770400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:12770200-12770400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:12770200-12770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:12770200-12770400	Genic enhancers	Fetal Thymus	thymus
38	chr18:12770200-12770400	Enhancers	HSMMtube	muscle
39	chr18:12770200-12770800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:12770400-12771400	Enhancers	Fetal Thymus	thymus
41	chr18:12770600-12770800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:12770600-12771000	Enhancers	NHEK	skin
43	chr18:12770600-12771800	Weak transcription	HepG2	liver
44	chr18:12770800-12771000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:12771400-12771600	Weak transcription	Fetal Thymus	thymus
46	chr18:12771600-12771800	Genic enhancers	Fetal Thymus	thymus
47	chr18:12771800-12772000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:12771800-12772000	Weak transcription	Fetal Thymus	thymus
49	chr18:12771800-12772400	Enhancers	HepG2	liver
50	chr18:12772000-12772200	Strong transcription	Fetal Thymus	thymus

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