Variant report

Variant	rs10402454
Chromosome Location	chr19:53715343-53715344
allele	A/G
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	ZNF274	chr19:53714464-53717210	GM08714	blood:	n/a	n/a
2	ZNF274	chr19:53714546-53716772	HepG2	liver:	n/a	n/a
3	ZNF274	chr19:53714458-53716893	NT2-D1	testis:	n/a	n/a
4	ZNF274	chr19:53715182-53716711	GM12878	blood:	n/a	n/a
5	ZNF274	chr19:53714402-53717019	K562	blood:	n/a	n/a
6	SETDB1	chr19:53714935-53716765	U2OS	brain:	n/a	n/a
7	KAP1	chr19:53715246-53716635	K562	blood:	n/a	chr19:53716078-53716086 chr19:53715994-53716002 chr19:53716162-53716170
8	ZNF274	chr19:53714401-53717035	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ZNF818P	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10408724	1.00[AFR][1000 genomes]
rs10408926	1.00[AFR][1000 genomes]
rs10410412	1.00[AFR][1000 genomes]
rs10425755	1.00[AFR][1000 genomes]
rs28475813	1.00[AFR][1000 genomes]
rs28577950	1.00[AFR][1000 genomes]
rs28687376	1.00[AFR][1000 genomes]
rs28710262	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53701600-53715400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
2	chr19:53701600-53720200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
3	chr19:53701600-53724800	ZNF genes & repeats	Liver	Liver
4	chr19:53701600-53725000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:53701600-53725000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:53701800-53718400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:53701800-53725400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:53702400-53724800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:53706600-53716600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
10	chr19:53710600-53716800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:53711200-53715800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:53711200-53716400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
13	chr19:53711200-53716600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:53711200-53717000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr19:53711200-53718000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:53711200-53720200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr19:53711400-53716400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr19:53711400-53716800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr19:53711400-53717000	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:53711600-53716800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr19:53711600-53716800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr19:53711600-53717000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr19:53711800-53716800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
24	chr19:53711800-53716800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr19:53711800-53717000	ZNF genes & repeats	Brain Angular Gyrus	brain
26	chr19:53711800-53718000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:53712000-53717000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:53712200-53715400	ZNF genes & repeats	Dnd41	blood
29	chr19:53712200-53716800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:53712200-53718200	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:53712400-53716400	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr19:53712400-53717200	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr19:53712400-53717200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr19:53712400-53720200	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr19:53712600-53716600	ZNF genes & repeats	Fetal Lung	lung
36	chr19:53712600-53717000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:53712800-53716600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr19:53713800-53716800	ZNF genes & repeats	Psoas Muscle	Psoas
39	chr19:53714400-53715400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr19:53714600-53715800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:53714800-53716000	Weak transcription	Placenta Amnion	Placenta Amnion

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