Variant report

Variant	rs7732759
Chromosome Location	chr5:126115304-126115305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr5:126115161-126115364	K562	blood:	n/a	n/a
2	POLR2A	chr5:126111708-126115315	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:126111588-126115380	GM12892	blood:	n/a	n/a
4	TBP	chr5:126115169-126115380	K562	blood:	n/a	n/a
5	NR2F2	chr5:126113608-126115385	K562	blood:	n/a	n/a
6	MYC	chr5:126112024-126115355	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126110953..126112641-chr5:126114465..126116058,3	K562	blood:
2	chr5:126109563..126112452-chr5:126114638..126116357,2	K562	blood:
3	chr5:126058298..126059864-chr5:126113085..126115635,2	K562	blood:
4	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
5	chr5:126112758..126116358-chr5:126145679..126148817,3	K562	blood:
6	chr5:126021301..126023563-chr5:126114840..126116596,2	MCF-7	breast:
7	chr5:125990916..125992707-chr5:126114445..126117654,3	K562	blood:
8	chr5:126043269..126045941-chr5:126113391..126116296,2	K562	blood:
9	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
10	chr5:125943485..125947339-chr5:126112518..126115430,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251072	TF binding region
ENSG00000164902	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction
ENSG00000252185	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17532839	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598428	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598867	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763156	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3805739	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55656009	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391696	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62391699	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62391701	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391704	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391730	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391731	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391738	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391742	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392862	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6874636	0.90[ASN][1000 genomes]
rs7714589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126111200-126115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:126111200-126115800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:126111200-126115800	Active TSS	A549	lung
4	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:126111600-126116200	Active TSS	Thymus	Thymus
7	chr5:126111600-126116600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:126111800-126116000	Active TSS	Fetal Kidney	kidney
9	chr5:126111800-126116400	Active TSS	GM12878-XiMat	blood
10	chr5:126112200-126116200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:126113000-126117000	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr5:126113600-126115800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:126113800-126115600	Active TSS	Fetal Brain Female	brain
14	chr5:126114000-126115400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:126114200-126115400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:126114200-126115400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:126114200-126116400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr5:126114400-126115400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:126114400-126115400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:126114400-126115400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:126114400-126115400	Flanking Active TSS	HUVEC	blood vessel
22	chr5:126114400-126115400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:126114400-126116000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:126114400-126116200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:126114600-126115400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr5:126114600-126115400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:126114600-126115400	Flanking Active TSS	Hela-S3	cervix
28	chr5:126114600-126115400	Flanking Active TSS	HepG2	liver
29	chr5:126114600-126115800	Active TSS	HSMM	muscle
30	chr5:126114600-126116800	Weak transcription	Right Atrium	heart
31	chr5:126114600-126118600	Weak transcription	Gastric	stomach
32	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
34	chr5:126114600-126161600	Weak transcription	Ovary	ovary
35	chr5:126114800-126115800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:126114800-126115800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:126114800-126116200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr5:126114800-126116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:126114800-126116400	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:126114800-126116400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:126114800-126116800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:126115000-126115400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:126115000-126115400	Flanking Active TSS	HMEC	breast
44	chr5:126115000-126115600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:126115000-126115600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:126115000-126115800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:126115000-126115800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:126115000-126116000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:126115000-126116000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr5:126115000-126116000	Weak transcription	Brain Substantia Nigra	brain

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