Variant report

Variant	rs12518228
Chromosome Location	chr5:126095379-126095380
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	TBP	chr5:126095126-126095511	GM12878	blood:	n/a	n/a
2	FOXA1	chr5:126095125-126095441	T-47D	breast:	n/a	chr5:126095255-126095270

No.	Distal block	Cell Line	Cell type
1	chr5:126076590..126078230-chr5:126093014..126095500,2	K562	blood:
2	chr5:126088892..126090481-chr5:126094114..126095663,2	K562	blood:
3	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
4	chr5:126011936..126014534-chr5:126093922..126095798,2	K562	blood:
5	chr5:126091797..126096824-chr5:126110600..126114072,4	MCF-7	breast:

Variant related genes	Relation type
RNU6-752P	TF binding region
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12514703	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12515255	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12515582	1.00[CHB][hapmap]
rs12518331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521266	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17165305	1.00[JPT][hapmap]
rs17165351	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17165359	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3749830	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3805737	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs3812062	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55699774	0.84[ASN][1000 genomes]
rs56121757	0.92[ASN][1000 genomes]
rs56366269	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59395878	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60107783	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60147760	0.92[ASN][1000 genomes]
rs60818126	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61074663	0.84[ASN][1000 genomes]
rs72780203	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72780207	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72780210	0.81[AFR][1000 genomes]
rs72780211	0.82[EUR][1000 genomes]
rs72798231	0.84[AMR][1000 genomes]
rs72798238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798243	0.92[ASN][1000 genomes]
rs72798245	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798246	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798247	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798249	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798253	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798255	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7447810	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:126094000-126095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:126094200-126095800	Enhancers	Gastric	stomach
8	chr5:126094400-126096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:126094400-126097800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:126094400-126097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:126094400-126097800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:126094600-126095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:126094600-126095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:126094600-126095800	Enhancers	Primary B cells from cord blood	blood
15	chr5:126094600-126095800	Enhancers	K562	blood
16	chr5:126094600-126096200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:126094600-126096800	Enhancers	GM12878-XiMat	blood
18	chr5:126094800-126095800	Flanking Active TSS	Dnd41	blood
19	chr5:126095000-126095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:126095000-126095600	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:126095000-126095800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:126095000-126095800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:126095000-126097800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:126095000-126097800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:126095000-126098000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:126095200-126095400	Flanking Active TSS	A549	lung
27	chr5:126095200-126095600	Enhancers	Fetal Intestine Large	intestine
28	chr5:126095200-126095800	Enhancers	HepG2	liver
29	chr5:126095200-126097200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:126095200-126097800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:126095200-126097800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:126095200-126098200	Enhancers	Primary neutrophils fromperipheralblood	blood

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