Variant report

Variant	rs61990688
Chromosome Location	chr14:78230685-78230686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78230094-78230921	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF7	chr14:78230210-78230852	H1-hESC	embryonic stem cell:	n/a	n/a
3	STAT3	chr14:78230631-78230861	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:78230366-78230878	K562	blood:	n/a	n/a
5	HEY1	chr14:78230381-78230792	K562	blood:	n/a	n/a
6	TAF7	chr14:78230398-78230770	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:78230378-78230789	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr14:78230208-78230692	K562	blood:	n/a	n/a
9	POLR2A	chr14:78230302-78230849	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF7	chr14:78230397-78230712	K562	blood:	n/a	n/a
11	POLR2A	chr14:78230320-78230806	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
2	chr14:78225717..78227379-chr14:78229569..78231162,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268208	TF binding region
SNW1	TF binding region
ENSG00000063761	Chromatin interaction
ENSG00000197734	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1030151	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1030152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17106259	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17106364	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45519831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45611739	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899669	0.83[EUR][1000 genomes]
rs4899671	0.83[EUR][1000 genomes]
rs4899672	0.83[EUR][1000 genomes]
rs4903628	0.83[EUR][1000 genomes]
rs4903630	0.83[EUR][1000 genomes]
rs4903633	0.89[EUR][1000 genomes]
rs57485881	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57654091	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58390480	0.83[EUR][1000 genomes]
rs60228583	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61435552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990683	0.93[EUR][1000 genomes]
rs61990684	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990686	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990695	1.00[EUR][1000 genomes]
rs61990716	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990718	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990719	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990721	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990722	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990855	0.83[AMR][1000 genomes]
rs61990856	0.83[AMR][1000 genomes]
rs61992865	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61992869	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61992912	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61992917	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61992919	0.83[EUR][1000 genomes]
rs61992921	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61993669	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993672	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6574390	0.93[EUR][1000 genomes]
rs7143265	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7143382	0.83[EUR][1000 genomes]
rs7146446	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147748	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7152638	0.80[EUR][1000 genomes]
rs7156186	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156905	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7160307	0.83[EUR][1000 genomes]
rs8007598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014720	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8019064	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61990688	RPL21P10	cis	Muscle Skeletal	GTEx
rs61990688	RPL21P10	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78228200-78230800	Weak transcription	Right Ventricle	heart
2	chr14:78228200-78233200	Weak transcription	Fetal Brain Male	brain
3	chr14:78228400-78230800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:78228400-78231000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:78228400-78234800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:78229600-78230800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:78229800-78230800	Enhancers	Brain Germinal Matrix	brain
8	chr14:78230200-78230800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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