Variant report

Variant	esv3399400
Chromosome Location	chr19:24294712-24299110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199955031	chr19:24294769-24294770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574993977	chr19:24294891-24294892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200747882	chr19:24294970-24294971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554253197	chr19:24295171-24295172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556915274	chr19:24295226-24295227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2608203	chr19:24295227-24295228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9710602	chr19:24295228-24295229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540592121	chr19:24295232-24295233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9710593	chr19:24295253-24295254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565539043	chr19:24295288-24295289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532762851	chr19:24295334-24295335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544768604	chr19:24295378-24295379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563017721	chr19:24295477-24295478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530208219	chr19:24295501-24295502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10405144	chr19:24295511-24295512	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112949718	chr19:24295547-24295548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573361479	chr19:24295562-24295563	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527654878	chr19:24295571-24295572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546591381	chr19:24295607-24295608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565513605	chr19:24295672-24295673	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186209902	chr19:24295715-24295716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555188666	chr19:24295760-24295761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79768895	chr19:24295765-24295766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183571884	chr19:24295767-24295768	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557306077	chr19:24295772-24295773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78607483	chr19:24295788-24295789	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575274831	chr19:24295790-24295791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556731250	chr19:24295806-24295807	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77477753	chr19:24295808-24295809	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76084122	chr19:24295814-24295815	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75747746	chr19:24295816-24295817	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62305738	chr19:24295817-24295818	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79724581	chr19:24295818-24295819	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568647129	chr19:24295825-24295826	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79635937	chr19:24295828-24295829	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2925932	chr19:24295829-24295830	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs2925931	chr19:24295834-24295835	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79241679	chr19:24295862-24295863	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554622030	chr19:24295865-24295866	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544250392	chr19:24295871-24295872	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79226693	chr19:24295872-24295873	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540185306	chr19:24295889-24295890	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558989609	chr19:24295893-24295894	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77833973	chr19:24295899-24295900	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564052223	chr19:24295923-24295924	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145095391	chr19:24295930-24295931	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79933076	chr19:24295941-24295942	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533307787	chr19:24295955-24295956	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563055692	chr19:24295990-24295991	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12947007	chr19:24296000-24296001	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24270600-24296200	Weak transcription	Stomach Mucosa	stomach
2	chr19:24271200-24300200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:24271400-24295000	Weak transcription	HMEC	breast
4	chr19:24271400-24301400	Weak transcription	HSMMtube	muscle
5	chr19:24271400-24308600	Weak transcription	K562	blood
6	chr19:24284800-24300400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:24285000-24302200	Weak transcription	Brain Substantia Nigra	brain
8	chr19:24291000-24308600	Weak transcription	Hela-S3	cervix
9	chr19:24291200-24295800	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:24291200-24299800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:24291200-24305800	Weak transcription	HUVEC	blood vessel
12	chr19:24291400-24295600	Weak transcription	Brain Angular Gyrus	brain
13	chr19:24291400-24299800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:24291400-24300000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:24291400-24300200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:24291400-24300800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:24291400-24301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:24291400-24301600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:24291400-24302800	Weak transcription	NHLF	lung
20	chr19:24291400-24305000	Weak transcription	Right Ventricle	heart
21	chr19:24291600-24301800	Weak transcription	NH-A	brain
22	chr19:24291600-24307400	Weak transcription	Osteobl	bone
23	chr19:24291800-24295600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:24291800-24296600	Weak transcription	Psoas Muscle	Psoas
25	chr19:24291800-24299800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:24291800-24299800	Weak transcription	Fetal Thymus	thymus
27	chr19:24291800-24300200	Weak transcription	Brain Anterior Caudate	brain
28	chr19:24291800-24301000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:24291800-24301600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:24291800-24303600	Weak transcription	NHDF-Ad	bronchial
31	chr19:24292000-24295200	Weak transcription	Brain Germinal Matrix	brain
32	chr19:24292000-24295600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:24292000-24295600	Weak transcription	Primary T cells from cord blood	blood
34	chr19:24292000-24295800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:24292000-24299600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:24292000-24299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:24292000-24299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:24292000-24299800	Weak transcription	Placenta	Placenta
39	chr19:24292000-24309000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:24292400-24299200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:24292800-24299600	Weak transcription	Colonic Mucosa	Colon
42	chr19:24293000-24301400	Weak transcription	HSMM	muscle
43	chr19:24293400-24295600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:24293400-24295600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:24293400-24295600	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:24293400-24295800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:24293400-24296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:24293400-24298200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:24293400-24299600	Weak transcription	Fetal Intestine Large	intestine
50	chr19:24293400-24299600	Weak transcription	Lung	lung

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