Variant report

Variant	esv18417
Chromosome Location	chr18:13494918-13495928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13494171..13497555-chr18:13498972..13501246,3	MCF-7	breast:
2	chr18:13474438..13476650-chr18:13495412..13497613,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115305161	chr18:13494923-13494924	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554721479	chr18:13494926-13494927	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192129298	chr18:13494955-13494956	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371034950	chr18:13494961-13494962	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568739055	chr18:13494973-13494974	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1539803	chr18:13494995-13494996	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375850172	chr18:13495021-13495022	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577130318	chr18:13495088-13495089	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76464542	chr18:13495110-13495111	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138381641	chr18:13495111-13495112	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182216134	chr18:13495133-13495134	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542144001	chr18:13495159-13495160	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563440503	chr18:13495221-13495222	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143865868	chr18:13495237-13495238	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186815054	chr18:13495238-13495239	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564178972	chr18:13495240-13495241	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528227802	chr18:13495246-13495247	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546274736	chr18:13495247-13495248	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112505339	chr18:13495258-13495259	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561750853	chr18:13495277-13495278	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576304808	chr18:13495290-13495291	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530312705	chr18:13495293-13495294	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548487187	chr18:13495299-13495300	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569869122	chr18:13495337-13495338	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141059991	chr18:13495344-13495345	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191238650	chr18:13495395-13495396	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372087816	chr18:13495416-13495417	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570854144	chr18:13495442-13495443	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182651870	chr18:13495520-13495521	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115553819	chr18:13495530-13495531	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574794354	chr18:13495608-13495609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534729909	chr18:13495624-13495625	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7244264	chr18:13495628-13495629	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540359376	chr18:13495640-13495641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188173872	chr18:13495644-13495645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575467890	chr18:13495657-13495658	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59230126	chr18:13495670-13495671	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564352731	chr18:13495723-13495724	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80319167	chr18:13495725-13495726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558683456	chr18:13495751-13495752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540357044	chr18:13495789-13495790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561491371	chr18:13495790-13495791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528886275	chr18:13495806-13495807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548433726	chr18:13495809-13495810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563632270	chr18:13495818-13495819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531156482	chr18:13495824-13495825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552333151	chr18:13495825-13495826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577149644	chr18:13495845-13495846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534778164	chr18:13495847-13495848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192941090	chr18:13495860-13495861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13456600-13497800	Weak transcription	Gastric	stomach
2	chr18:13467000-13501000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr18:13467400-13502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr18:13470800-13501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:13471000-13500400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:13472600-13497800	Weak transcription	Adipose Nuclei	Adipose
8	chr18:13472600-13497800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:13472600-13497800	Weak transcription	Lung	lung
10	chr18:13472800-13497600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr18:13473200-13498200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:13475200-13498000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:13478400-13497800	Weak transcription	Left Ventricle	heart
14	chr18:13481200-13498400	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:13482200-13497800	Weak transcription	Esophagus	oesophagus
16	chr18:13482800-13498400	Strong transcription	Dnd41	blood
17	chr18:13483800-13502600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:13484600-13498200	Weak transcription	Fetal Intestine Large	intestine
19	chr18:13485600-13497800	Weak transcription	Right Ventricle	heart
20	chr18:13487000-13497800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:13487000-13500800	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:13487400-13495200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:13487400-13498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:13487600-13498200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:13488200-13496400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:13488600-13498400	Strong transcription	Thymus	Thymus
27	chr18:13488800-13497800	Weak transcription	Spleen	Spleen
28	chr18:13488800-13499800	Weak transcription	Psoas Muscle	Psoas
29	chr18:13489000-13498200	Weak transcription	Pancreas	Pancrea
30	chr18:13489800-13498400	Weak transcription	Brain Angular Gyrus	brain
31	chr18:13491200-13498800	Weak transcription	HepG2	liver
32	chr18:13491600-13498200	Weak transcription	Fetal Intestine Small	intestine
33	chr18:13491800-13497000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:13492000-13502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr18:13492200-13497400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:13492200-13497800	Weak transcription	Fetal Heart	heart
37	chr18:13492200-13498400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:13492400-13497800	Weak transcription	Fetal Lung	lung
39	chr18:13492600-13497600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr18:13492600-13497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:13492600-13497800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13492600-13497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:13492600-13497800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr18:13492800-13497600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr18:13492800-13497800	Weak transcription	Liver	Liver
46	chr18:13493000-13497000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr18:13493000-13497200	Strong transcription	Fetal Thymus	thymus
48	chr18:13493400-13497600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr18:13493600-13499400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr18:13493800-13495600	Enhancers	Fetal Brain Male	brain

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