Variant report

Variant	rs62119416
Chromosome Location	chr19:42051289-42051290
allele	A/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	FOXA1	chr19:42051035-42051411	HepG2	liver:	n/a	n/a
2	SP1	chr19:42051001-42051303	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000268027	TF binding region
CEACAM21	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11881771	0.89[EUR][1000 genomes]
rs16975329	1.00[EUR][1000 genomes]
rs16975336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119363	0.89[EUR][1000 genomes]
rs62119364	1.00[EUR][1000 genomes]
rs62119366	1.00[EUR][1000 genomes]
rs62119367	1.00[EUR][1000 genomes]
rs62119368	1.00[EUR][1000 genomes]
rs62119370	1.00[EUR][1000 genomes]
rs62119371	1.00[EUR][1000 genomes]
rs62119372	1.00[EUR][1000 genomes]
rs62119373	1.00[EUR][1000 genomes]
rs62119374	1.00[EUR][1000 genomes]
rs62119376	1.00[EUR][1000 genomes]
rs62119408	1.00[EUR][1000 genomes]
rs62119409	1.00[EUR][1000 genomes]
rs62119410	1.00[EUR][1000 genomes]
rs62119411	0.90[EUR][1000 genomes]
rs62119419	0.89[EUR][1000 genomes]
rs62119420	0.89[EUR][1000 genomes]
rs62119421	0.89[EUR][1000 genomes]
rs62119449	0.89[EUR][1000 genomes]
rs62119450	0.89[EUR][1000 genomes]
rs7246864	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7255763	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7255775	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42043400-42052000	Weak transcription	Right Atrium	heart
2	chr19:42048400-42051800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:42048400-42052000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:42048600-42051800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42048600-42051800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:42048600-42051800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr19:42048600-42052000	Enhancers	Primary T cells from cord blood	blood
8	chr19:42048600-42052000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:42048600-42052000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:42048600-42052000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:42048600-42052200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:42049000-42051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:42049000-42052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:42049200-42051400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:42049200-42051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:42050000-42052000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:42050200-42051800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:42050200-42052000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:42050200-42052000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:42050400-42052000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:42050400-42052000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:42050600-42052000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:42050600-42052200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr19:42050800-42051800	Weak transcription	Placenta	Placenta
26	chr19:42050800-42051800	Weak transcription	GM12878-XiMat	blood
27	chr19:42050800-42053400	Enhancers	Spleen	Spleen
28	chr19:42051000-42051400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:42051200-42051600	Weak transcription	Primary B cells from cord blood	blood

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