Variant report

Variant	rs12523362
Chromosome Location	chr5:126095011-126095012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:126093426-126095124	GM12878	blood:	n/a	n/a
2	CUX1	chr5:126094920-126095201	GM12878	blood:	n/a	n/a

No data

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

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	chr5:126091168..126095262-chr5:126111673..126114591,6	K562	blood:
4	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
5	chr5:126079615..126082602-chr5:126091477..126095307,3	K562	blood:
6	chr5:126011936..126014534-chr5:126093922..126095798,2	K562	blood:
7	chr5:126091797..126096824-chr5:126110600..126114072,4	MCF-7	breast:
8	chr5:126092644..126095197-chr5:126095579..126097728,2	K562	blood:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12515565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515582	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55960310	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391698	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62391700	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867793	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6886443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729845	0.81[CEU][hapmap];0.83[GIH][hapmap];0.80[TSI][hapmap]

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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:126093600-126095200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:126093800-126095200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:126093800-126095200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:126094000-126095200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr5:126094000-126095200	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:126094000-126095200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:126094000-126095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:126094200-126095800	Enhancers	Gastric	stomach
14	chr5:126094400-126095200	Enhancers	Primary T cells from cord blood	blood
15	chr5:126094400-126096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:126094400-126097800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:126094400-126097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:126094400-126097800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:126094600-126095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:126094600-126095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:126094600-126095800	Enhancers	Primary B cells from cord blood	blood
22	chr5:126094600-126095800	Enhancers	K562	blood
23	chr5:126094600-126096200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:126094600-126096800	Enhancers	GM12878-XiMat	blood
25	chr5:126094800-126095800	Flanking Active TSS	Dnd41	blood
26	chr5:126095000-126095200	Active TSS	A549	lung
27	chr5:126095000-126095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:126095000-126095600	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:126095000-126095800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:126095000-126095800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:126095000-126097800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:126095000-126097800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:126095000-126098000	Weak transcription	Primary T cells fromperipheralblood	blood

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