Variant report

Variant	esv3388823
Chromosome Location	chr18:13135977-13138825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13138041..13140192-chr18:13216726..13219205,3	MCF-7	breast:
2	chr18:13133544..13136413-chr18:13146335..13148164,2	K562	blood:
3	chr18:13134910..13136836-chr18:13149613..13152006,2	K562	blood:
4	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59809756	chr18:13135983-13135984	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111669879	chr18:13135984-13135985	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57906042	chr18:13135993-13135994	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185611967	chr18:13135994-13135995	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530292289	chr18:13136005-13136006	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs11080629	chr18:13136023-13136024	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs548933558	chr18:13136037-13136038	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs570328244	chr18:13136042-13136043	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs190585805	chr18:13136064-13136065	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs370934675	chr18:13136109-13136110	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs552559105	chr18:13136133-13136134	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs570934286	chr18:13136137-13136138	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs534847199	chr18:13136160-13136161	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs553431471	chr18:13136165-13136166	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs528044728	chr18:13136167-13136168	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs574577823	chr18:13136194-13136195	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs535256808	chr18:13136199-13136200	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs193259975	chr18:13136202-13136203	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs370578268	chr18:13136206-13136207	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs73419577	chr18:13136218-13136219	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545403368	chr18:13136264-13136265	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs571086995	chr18:13136267-13136268	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs557505284	chr18:13136301-13136302	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs572790824	chr18:13136313-13136314	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs546764265	chr18:13136325-13136326	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs539981651	chr18:13136336-13136337	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs561806119	chr18:13136351-13136352	Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs530246081	chr18:13136428-13136429	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs73419580	chr18:13136478-13136479	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117970818	chr18:13136545-13136546	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs533654024	chr18:13136614-13136615	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs375718445	chr18:13136648-13136649	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs552895315	chr18:13136660-13136661	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs570804786	chr18:13136670-13136671	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs377513882	chr18:13136731-13136732	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs528468338	chr18:13136736-13136737	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs546816349	chr18:13136781-13136782	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs568508992	chr18:13136825-13136826	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs535291215	chr18:13136857-13136858	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs556694832	chr18:13136866-13136867	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs370666740	chr18:13136874-13136875	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs539393424	chr18:13136907-13136908	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs558007860	chr18:13136913-13136914	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs572784019	chr18:13136967-13136968	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs540191443	chr18:13136972-13136973	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs148423756	chr18:13136992-13136993	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs532933242	chr18:13137054-13137055	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs573731716	chr18:13137059-13137060	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs542452578	chr18:13137111-13137112	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs563914943	chr18:13137130-13137131	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
2	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
3	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
6	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
7	chr18:13121600-13136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:13121800-13136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr18:13122000-13136400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr18:13123800-13136400	Weak transcription	HSMM	muscle
11	chr18:13127000-13136200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr18:13127000-13136200	Weak transcription	Placenta	Placenta
13	chr18:13127200-13136200	Weak transcription	Brain Anterior Caudate	brain
14	chr18:13127400-13136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:13127600-13136000	Weak transcription	Adipose Nuclei	Adipose
16	chr18:13127600-13136000	Weak transcription	Colonic Mucosa	Colon
17	chr18:13127600-13136000	Weak transcription	Gastric	stomach
18	chr18:13127600-13136200	Weak transcription	Esophagus	oesophagus
19	chr18:13127600-13136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:13127600-13136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:13127600-13136600	Weak transcription	Right Ventricle	heart
22	chr18:13127600-13136800	Weak transcription	Aorta	Aorta
23	chr18:13127800-13136000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:13127800-13136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr18:13127800-13136400	Weak transcription	Primary B cells from cord blood	blood
26	chr18:13127800-13136400	Weak transcription	Primary T cells from cord blood	blood
27	chr18:13127800-13136400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:13127800-13136400	Weak transcription	Brain Substantia Nigra	brain
29	chr18:13128200-13136000	Weak transcription	Liver	Liver
30	chr18:13128600-13136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr18:13129600-13136000	Weak transcription	Spleen	Spleen
32	chr18:13129600-13136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:13130400-13136800	Weak transcription	A549	lung
34	chr18:13130800-13136400	Weak transcription	Osteobl	bone
35	chr18:13135000-13136600	Enhancers	Lung	lung
36	chr18:13135200-13136000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:13135200-13136000	Enhancers	Brain Germinal Matrix	brain
38	chr18:13135600-13136200	Enhancers	Primary hematopoietic stem cells	blood
39	chr18:13135600-13136200	Enhancers	Fetal Brain Female	brain
40	chr18:13135600-13136400	Enhancers	Ovary	ovary
41	chr18:13135600-13136600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:13135600-13136800	Flanking Active TSS	Dnd41	blood
43	chr18:13135800-13136000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:13135800-13136000	Enhancers	Brain Hippocampus Middle	brain
45	chr18:13135800-13136000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr18:13135800-13136200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr18:13135800-13136200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:13135800-13136200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr18:13135800-13136200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr18:13135800-13136200	Enhancers	Brain Cingulate Gyrus	brain

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