Variant report

Variant	rs57725815
Chromosome Location	chr19:38264683-38264684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:38264659-38264707	Lung_OC	lung:	n/a	n/a

Variant related genes	Relation type
ZNF573	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10153500	0.90[EUR][1000 genomes]
rs10424047	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11878261	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879149	0.85[EUR][1000 genomes]
rs11880056	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880604	0.85[EUR][1000 genomes]
rs11883255	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975881	0.84[EUR][1000 genomes]
rs16975930	0.84[EUR][1000 genomes]
rs34206817	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743484	0.82[EUR][1000 genomes]
rs56075341	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264690	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281742	0.93[EUR][1000 genomes]
rs57504517	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57867853	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59966837	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60686304	0.93[EUR][1000 genomes]
rs62108260	0.93[EUR][1000 genomes]
rs62108262	0.85[EUR][1000 genomes]
rs62108289	0.93[EUR][1000 genomes]
rs62108290	0.93[EUR][1000 genomes]
rs62108292	0.93[EUR][1000 genomes]
rs62108293	0.93[EUR][1000 genomes]
rs62108297	0.93[EUR][1000 genomes]
rs62108348	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62108350	0.95[ASN][1000 genomes]
rs62108354	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62110178	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110183	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110185	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110186	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110187	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110188	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110190	0.84[EUR][1000 genomes]
rs62110192	0.84[EUR][1000 genomes]
rs62110194	0.84[EUR][1000 genomes]
rs62110195	0.84[EUR][1000 genomes]
rs62110222	0.84[EUR][1000 genomes]
rs62111488	0.93[EUR][1000 genomes]
rs62111490	0.93[EUR][1000 genomes]
rs7245965	0.84[EUR][1000 genomes]
rs7245981	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7246147	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247175	0.93[EUR][1000 genomes]
rs7247345	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251502	0.84[EUR][1000 genomes]
rs7258992	0.93[EUR][1000 genomes]
rs7259029	0.93[EUR][1000 genomes]
rs7259717	0.93[EUR][1000 genomes]
rs73932929	0.93[EUR][1000 genomes]
rs73932955	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8100469	0.84[EUR][1000 genomes]
rs8101476	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8101991	0.93[EUR][1000 genomes]
rs8102189	0.93[EUR][1000 genomes]
rs8104124	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104747	0.93[EUR][1000 genomes]
rs8108261	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
2	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
3	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
4	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
5	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
7	chr19:38248800-38269400	Weak transcription	NH-A	brain
8	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
9	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:38250600-38265000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:38250600-38266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:38251800-38269400	Weak transcription	Gastric	stomach
13	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
14	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:38252600-38269000	Weak transcription	NHEK	skin
16	chr19:38254600-38269400	Weak transcription	Right Ventricle	heart
17	chr19:38254800-38269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:38255400-38264800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:38255800-38265200	Strong transcription	Primary B cells from cord blood	blood
20	chr19:38255800-38266400	ZNF genes & repeats	Liver	Liver
21	chr19:38256800-38269400	Weak transcription	NHLF	lung
22	chr19:38258400-38267600	Weak transcription	K562	blood
23	chr19:38258800-38269200	Weak transcription	HSMMtube	muscle
24	chr19:38259200-38269200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:38259200-38269200	Weak transcription	Fetal Kidney	kidney
26	chr19:38259200-38269200	Weak transcription	HSMM	muscle
27	chr19:38259200-38269400	Weak transcription	Psoas Muscle	Psoas
28	chr19:38259400-38265200	Strong transcription	Ovary	ovary
29	chr19:38259400-38269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:38260200-38269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38260200-38269200	Weak transcription	Fetal Thymus	thymus
32	chr19:38260800-38269000	Weak transcription	Thymus	Thymus
33	chr19:38260800-38269200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:38260800-38269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:38260800-38269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:38260800-38269400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:38261000-38269000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:38261000-38269200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:38261000-38269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:38261000-38269200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:38261000-38269200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:38261200-38269000	Weak transcription	Pancreas	Pancrea
43	chr19:38261200-38269200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:38261200-38269200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:38261200-38269200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:38261200-38269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:38261200-38269200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:38261200-38269200	Weak transcription	HepG2	liver
49	chr19:38261200-38269200	Weak transcription	Osteobl	bone
50	chr19:38261200-38269400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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