Variant report

Variant	esv3347259
Chromosome Location	chr19:24525922-24603547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6844 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:6844 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544478263	chr19:24525927-24525928	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564370362	chr19:24525928-24525929	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113810030	chr19:24525939-24525940	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540116539	chr19:24525970-24525971	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551832540	chr19:24525992-24525993	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376908103	chr19:24526001-24526002	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569622354	chr19:24526008-24526009	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537051277	chr19:24526014-24526015	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369147398	chr19:24526015-24526016	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373432953	chr19:24526022-24526023	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs8189900	chr19:24526026-24526027	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555465569	chr19:24526050-24526051	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111331511	chr19:24526056-24526057	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534450831	chr19:24526058-24526059	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2124634	chr19:24526099-24526100	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553118733	chr19:24526113-24526114	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377577981	chr19:24526119-24526120	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577803003	chr19:24526148-24526149	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545286853	chr19:24526152-24526153	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556841710	chr19:24526154-24526155	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200612136	chr19:24526176-24526177	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201280346	chr19:24526177-24526178	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575988500	chr19:24526190-24526191	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112311155	chr19:24526206-24526207	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527666919	chr19:24526208-24526209	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112604817	chr19:24526214-24526215	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561774147	chr19:24526216-24526217	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112232133	chr19:24526221-24526222	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112221677	chr19:24526222-24526223	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199816098	chr19:24526223-24526224	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529372467	chr19:24526225-24526226	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546906902	chr19:24526228-24526229	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559893754	chr19:24526229-24526230	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs8189920	chr19:24526235-24526236	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs8189949	chr19:24526241-24526242	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533363695	chr19:24526252-24526253	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs8189921	chr19:24526253-24526254	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552060414	chr19:24526255-24526256	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570376649	chr19:24526276-24526277	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530487794	chr19:24526290-24526291	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548980509	chr19:24526307-24526308	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs567306714	chr19:24526308-24526309	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148115277	chr19:24526329-24526330	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534708461	chr19:24526330-24526331	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549413510	chr19:24526333-24526334	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150595308	chr19:24526334-24526335	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571374767	chr19:24526335-24526336	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144059410	chr19:24526338-24526339	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538466484	chr19:24526342-24526343	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556803165	chr19:24526380-24526381	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
3	chr19:24508800-24569000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:24509200-24570800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24513000-24571800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:24513400-24527000	ZNF genes & repeats	Dnd41	blood
7	chr19:24513600-24530800	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr19:24521200-24526600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:24522000-24576600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:24523200-24526400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:24524000-24526600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
12	chr19:24524600-24526400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:24524800-24526600	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr19:24524800-24529600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:24524800-24530400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:24525200-24526400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:24525200-24542000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:24525400-24577200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr19:24525600-24526800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr19:24525600-24526800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:24525600-24526800	ZNF genes & repeats	HepG2	liver
22	chr19:24525800-24526000	Enhancers	Hela-S3	cervix
23	chr19:24525800-24526400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:24525800-24526400	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr19:24525800-24526600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:24525800-24526800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:24526000-24526200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
28	chr19:24526000-24526200	ZNF genes & repeats	Esophagus	oesophagus
29	chr19:24526000-24526200	Active TSS	Right Atrium	heart
30	chr19:24526000-24526200	Flanking Bivalent TSS/Enh	NHLF	lung
31	chr19:24526000-24526400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr19:24526000-24526400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:24526000-24526400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:24526000-24526400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:24526000-24526400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:24526000-24526400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr19:24526000-24526400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:24526000-24526400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:24526000-24526400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:24526000-24526400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:24526000-24526400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:24526000-24526400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr19:24526000-24526400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:24526000-24526400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
47	chr19:24526000-24526400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr19:24526000-24526400	ZNF genes & repeats	Aorta	Aorta
49	chr19:24526000-24526400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr19:24526000-24526400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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