Variant report

Variant	rs13113320
Chromosome Location	chr4:153013520-153013521
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:153013489..153015445-chr4:153021953..153024668,2	MCF-7	breast:
2	chr4:153007404..153009419-chr4:153012394..153015210,2	K562	blood:

Variant related genes	Relation type
ENSG00000245954	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12649261	0.98[ASN][1000 genomes]
rs6535835	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7659540	0.85[ASN][1000 genomes]
rs7663766	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9992175	0.83[ASN][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13113320	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153003200-153013800	Enhancers	Fetal Thymus	thymus
2	chr4:153003600-153014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:153008200-153015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:153009600-153021600	Enhancers	Thymus	Thymus
5	chr4:153010200-153020200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:153010200-153021000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:153010200-153021200	Enhancers	Primary T cells from cord blood	blood
8	chr4:153010400-153020000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:153010600-153015600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:153010800-153014600	Weak transcription	Spleen	Spleen
11	chr4:153011400-153013600	Enhancers	Fetal Heart	heart
12	chr4:153011400-153015800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:153012400-153015200	Weak transcription	Dnd41	blood
14	chr4:153012400-153016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:153012400-153016400	Weak transcription	Osteobl	bone
16	chr4:153012600-153014000	Weak transcription	Fetal Brain Male	brain
17	chr4:153012600-153014600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:153012600-153016200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:153012600-153018000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:153012800-153013800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:153012800-153015400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:153012800-153015800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:153013400-153013600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:153013400-153014000	Enhancers	Fetal Brain Female	brain

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