Variant report

Variant	rs12974994
Chromosome Location	chr19:35792460-35792461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35771240..35772791-chr19:35791910..35794645,2	MCF-7	breast:
2	chr19:35785339..35786931-chr19:35792153..35795089,3	MCF-7	breast:
3	chr19:35757970..35762827-chr19:35790905..35794858,6	K562	blood:
4	chr19:35632256..35633808-chr19:35791539..35794333,2	K562	blood:
5	chr19:35740050..35742142-chr19:35790657..35792710,2	K562	blood:
6	chr19:35791001..35793580-chr19:35794123..35796268,2	MCF-7	breast:
7	chr19:35792054..35793789-chr19:35826258..35829124,2	K562	blood:

Variant related genes	Relation type
ENSG00000105698	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000153902	Chromatin interaction
ENSG00000105697	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10418687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879566	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12185485	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301599	0.81[EUR][1000 genomes]
rs28505365	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35052289	0.86[ASN][1000 genomes]
rs3746248	0.93[EUR][1000 genomes]
rs73031739	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35788800-35795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:35789200-35793400	Weak transcription	Spleen	Spleen
4	chr19:35789200-35796800	Genic enhancers	Brain Cingulate Gyrus	brain
5	chr19:35789400-35794600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:35789600-35796200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:35789600-35796600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:35790000-35797800	Weak transcription	Fetal Kidney	kidney
9	chr19:35790200-35794000	Weak transcription	Brain Anterior Caudate	brain
10	chr19:35790200-35794200	Weak transcription	Brain Angular Gyrus	brain
11	chr19:35790200-35796400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:35791400-35792800	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:35791400-35798800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:35791600-35796200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:35791800-35793000	Weak transcription	Brain Substantia Nigra	brain
16	chr19:35792200-35793200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:35792200-35793200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:35792200-35796000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:35792400-35792800	Weak transcription	K562	blood
20	chr19:35792400-35796200	Weak transcription	Primary monocytes fromperipheralblood	blood

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