Variant report

Variant	rs72714703
Chromosome Location	chr8:125552238-125552239
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:125551674-125552306	K562	blood:	n/a	chr8:125552144-125552161
2	MXI1	chr8:125549508-125552974	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:125549444-125552363	SK-N-MC	brain:	n/a	n/a
4	GABPA	chr8:125550316-125552517	MCF-7	breast:	n/a	chr8:125551316-125551323
5	NR2F2	chr8:125550548-125552332	MCF-7	breast:	n/a	n/a
6	CEBPB	chr8:125551090-125552297	Hela-S3	cervix:	n/a	chr8:125552144-125552161
7	POLR2A	chr8:125550283-125552390	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr8:125549084-125552483	MCF10A-Er-Src	breast:	n/a	n/a
9	RCOR1	chr8:125550475-125552260	K562	blood:	n/a	n/a
10	CEBPD	chr8:125551691-125552256	K562	blood:	n/a	n/a
11	POLR2A	chr8:125549875-125552320	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
2	chr8:125551283..125554130-chr8:125630970..125633379,3	K562	blood:
3	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:
4	chr8:125550147..125552790-chr8:125567789..125570449,2	MCF-7	breast:
5	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
6	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
7	chr17:57913390..57915760-chr8:125550609..125552633,2	MCF-7	breast:
8	chr1:151170674..151172337-chr8:125550185..125552873,2	MCF-7	breast:
9	chr8:125551159..125553040-chr8:125983916..125986100,2	MCF-7	breast:
10	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
11	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
12	chr8:125498976..125500980-chr8:125550117..125552878,2	MCF-7	breast:
13	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
14	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
15	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
16	chr8:125552236..125554783-chr8:125637109..125639947,2	MCF-7	breast:
17	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
18	chr8:125551552..125553200-chr8:125577686..125580051,3	K562	blood:
19	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
20	chr5:102594162..102596152-chr8:125550887..125552879,2	MCF-7	breast:
21	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
22	chr8:125548570..125552806-chr8:125825742..125828762,4	K562	blood:
23	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
24	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
25	chr8:125550912..125552543-chr8:125740144..125742250,2	MCF-7	breast:
26	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
ENSG00000255491	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000181751	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000253106	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000143398	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11542673	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986208	0.92[EUR][1000 genomes]
rs16899649	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829038	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301437	0.92[EUR][1000 genomes]
rs4870899	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870902	1.00[EUR][1000 genomes]
rs4871493	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871496	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55872747	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55946925	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56158167	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56291877	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67764028	0.96[EUR][1000 genomes]
rs72713064	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713066	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713068	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713072	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713074	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713078	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713081	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713082	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713088	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713090	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713094	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714704	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714712	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125549600-125552400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:125549800-125552600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:125549800-125552600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:125550000-125552400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:125550000-125552600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:125550000-125552600	Active TSS	K562	blood
7	chr8:125550000-125553200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:125550200-125552400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:125550200-125552400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:125550200-125552400	Active TSS	A549	lung
11	chr8:125550200-125552600	Active TSS	GM12878-XiMat	blood
12	chr8:125550200-125552800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:125550200-125552800	Active TSS	Right Atrium	heart
14	chr8:125550200-125553000	Active TSS	Psoas Muscle	Psoas
15	chr8:125550400-125552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:125550400-125552400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:125550400-125552400	Active TSS	Left Ventricle	heart
18	chr8:125550400-125552400	Active TSS	Ovary	ovary
19	chr8:125550400-125552600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:125550400-125552800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:125550400-125553200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:125550600-125552400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:125550600-125552800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125550600-125552800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:125550600-125552800	Active TSS	NHDF-Ad	bronchial
26	chr8:125550600-125552800	Active TSS	NHLF	lung
27	chr8:125550600-125553000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:125550600-125553000	Active TSS	Right Ventricle	heart
29	chr8:125550800-125552400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr8:125550800-125552400	Active TSS	Gastric	stomach
31	chr8:125550800-125552400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr8:125550800-125552600	Active TSS	NH-A	brain
33	chr8:125551000-125552400	Active TSS	Fetal Muscle Trunk	muscle
34	chr8:125551000-125552600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:125551000-125552600	Active TSS	Stomach Smooth Muscle	stomach
36	chr8:125551400-125552400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr8:125551600-125552400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:125551600-125552600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:125551800-125552400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr8:125551800-125552400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:125551800-125552400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:125551800-125552400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr8:125551800-125552400	Flanking Active TSS	Fetal Brain Male	brain
44	chr8:125551800-125552400	Flanking Active TSS	Osteobl	bone
45	chr8:125551800-125552600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr8:125551800-125552600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:125551800-125552600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr8:125551800-125552600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:125551800-125552800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr8:125551800-125552800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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