Variant report

Variant	rs3756749
Chromosome Location	chr5:128429349-128429350
allele	C/T
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:5)
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	MXI1	chr5:128428996-128431720	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:128428787-128431666	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:48907747..48910180-chr5:128428330..128430095,2	MCF-7	breast:
2	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:
3	chr5:128426917..128432397-chr5:128432508..128439991,15	K562	blood:
4	chr5:128429058..128432172-chr5:128432458..128435695,7	MCF-7	breast:
5	chr5:128422228..128425056-chr5:128428398..128430336,2	K562	blood:

No data

Variant related genes	Relation type
ISOC1	TF binding region
MIR4633	TF binding region
ENSG00000113396	Chromatin interaction
ENSG00000203999	Chromatin interaction
ENSG00000264563	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17163693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163696	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17163698	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41298338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61190669	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73784850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128427400-128429400	Weak transcription	K562	blood
2	chr5:128428600-128429600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:128428800-128429600	Enhancers	HUVEC	blood vessel
4	chr5:128429000-128429600	Enhancers	Liver	Liver
5	chr5:128429200-128429400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr5:128429200-128429400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:128429200-128429400	Enhancers	Fetal Lung	lung
8	chr5:128429200-128429400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:128429200-128429400	Enhancers	Dnd41	blood
10	chr5:128429200-128429600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:128429200-128429600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:128429200-128429600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:128429200-128429600	Enhancers	Fetal Heart	heart
14	chr5:128429200-128429600	Enhancers	Fetal Intestine Large	intestine
15	chr5:128429200-128429600	Enhancers	Fetal Intestine Small	intestine
16	chr5:128429200-128429600	Enhancers	Fetal Muscle Leg	muscle
17	chr5:128429200-128429600	Enhancers	Fetal Stomach	stomach
18	chr5:128429200-128429600	Enhancers	HepG2	liver
19	chr5:128429200-128429800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:128429200-128429800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:128429200-128429800	Active TSS	GM12878-XiMat	blood

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