Variant report

Variant	rs72713101
Chromosome Location	chr8:125551858-125551859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:125551838-125552117	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr8:125550232-125551951	IMR90	lung:	n/a	n/a
3	POLR2A	chr8:125550511-125551898	K562	blood:	n/a	n/a
4	TBP	chr8:125550495-125551982	K562	blood:	n/a	n/a
5	REST	chr8:125550783-125551912	H1-neurons	neurons:	n/a	chr8:125551394-125551407
6	POLR2A	chr8:125550246-125551878	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:125551674-125552306	K562	blood:	n/a	chr8:125552144-125552161
8	MYC	chr8:125550469-125551892	K562	blood:	n/a	chr8:125550935-125550942
9	TRIM28	chr8:125550504-125551968	K562	blood:	n/a	n/a
10	MYC	chr8:125550275-125552110	K562	blood:	n/a	chr8:125550399-125550408 chr8:125550935-125550942
11	MAX	chr8:125550232-125552052	HCT-116	colon:	n/a	chr8:125550399-125550408 chr8:125550935-125550942
12	PML	chr8:125550620-125551890	GM12878	blood:	n/a	n/a
13	TCF12	chr8:125550493-125552030	A549	lung:	n/a	n/a
14	BRCA1	chr8:125550497-125551967	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr8:125551843-125552172	A549	lung:	n/a	chr8:125552144-125552161
16	GABPA	chr8:125550953-125551887	SK-N-SH	brain:	n/a	chr8:125551316-125551323
17	POLR2A	chr8:125550353-125552164	HepG2	liver:	n/a	n/a
18	NR2F2	chr8:125550932-125551871	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:125549583-125551914	GM12891	blood:	n/a	n/a
20	POLR2A	chr8:125550328-125552237	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr8:125549508-125552974	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr8:125549444-125552363	SK-N-MC	brain:	n/a	n/a
23	SIN3AK20	chr8:125550247-125552061	MCF-7	breast:	n/a	n/a
24	ATF2	chr8:125551008-125551931	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr8:125550175-125551937	MCF-7	breast:	n/a	chr8:125550399-125550408 chr8:125550935-125550942
26	ELF1	chr8:125550368-125551890	MCF-7	breast:	n/a	chr8:125551316-125551325 chr8:125551313-125551326
27	SIN3AK20	chr8:125550433-125551863	HCT-116	colon:	n/a	n/a
28	ATF2	chr8:125551011-125551937	GM12878	blood:	n/a	n/a
29	CEBPD	chr8:125550943-125552222	K562	blood:	n/a	n/a
30	MTA3	chr8:125550113-125551957	GM12878	blood:	n/a	n/a
31	SIN3A	chr8:125550464-125552099	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr8:125550316-125552517	MCF-7	breast:	n/a	chr8:125551316-125551323
33	GATA1	chr8:125550645-125552150	PBDE	blood:	n/a	chr8:125551959-125551970
34	WRNIP1	chr8:125550510-125552139	GM12878	blood:	n/a	n/a
35	CEBPB	chr8:125551837-125552177	K562	blood:	n/a	chr8:125552144-125552161
36	GABPA	chr8:125550729-125551859	SK-N-SH	brain:	n/a	chr8:125551316-125551323
37	SIN3AK20	chr8:125550163-125551948	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:125550181-125552117	K562	blood:	n/a	n/a
39	GTF2B	chr8:125551147-125551955	K562	blood:	n/a	n/a
40	NR2F2	chr8:125550548-125552332	MCF-7	breast:	n/a	n/a
41	GABPA	chr8:125550357-125552037	MCF-7	breast:	n/a	chr8:125551316-125551323
42	STAT5A	chr8:125550990-125551876	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:125550265-125551872	GM19099	blood:	n/a	n/a
44	POLR2A	chr8:125550336-125552166	PBDE	blood:	n/a	n/a
45	UBTF	chr8:125550475-125552090	K562	blood:	n/a	n/a
46	POLR2A	chr8:125550708-125551898	GM18951	blood:	n/a	n/a
47	YY1	chr8:125551057-125551873	GM12878	blood:	n/a	n/a
48	MYC	chr8:125550398-125552015	K562	blood:	n/a	chr8:125550399-125550408 chr8:125550935-125550942
49	SRF	chr8:125550361-125552033	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:125550311-125551984	Hela-S3	cervix:	n/a	n/a

No data

(count:32 , 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	chr8:125549492..125551989-chr8:125824960..125829256,5	K562	blood:
5	chr8:125550147..125552790-chr8:125567789..125570449,2	MCF-7	breast:
6	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
7	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
8	chr17:57913390..57915760-chr8:125550609..125552633,2	MCF-7	breast:
9	chr1:151170674..151172337-chr8:125550185..125552873,2	MCF-7	breast:
10	chr8:125551159..125553040-chr8:125983916..125986100,2	MCF-7	breast:
11	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
12	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
13	chr8:125498976..125500980-chr8:125550117..125552878,2	MCF-7	breast:
14	chr8:125461877..125466400-chr8:125548792..125551961,4	MCF-7	breast:
15	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
16	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
17	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
18	chr8:125548946..125551897-chr8:126103590..126105323,2	MCF-7	breast:
19	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
20	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
21	chr8:125551552..125553200-chr8:125577686..125580051,3	K562	blood:
22	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
23	chr5:102594162..102596152-chr8:125550887..125552879,2	MCF-7	breast:
24	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
25	chr8:125548570..125552806-chr8:125825742..125828762,4	K562	blood:
26	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
27	chr7:131011896..131012458-chr8:125551284..125551961,2	Hela-S3	cervix:
28	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
29	chr16:28962260..28963237-chr8:125551432..125551961,2	Hela-S3	cervix:
30	chr8:125550912..125552543-chr8:125740144..125742250,2	MCF-7	breast:
31	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:
32	chr8:125549873..125552042-chr8:125579435..125582392,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
ENSG00000181751	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000236753	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000176953	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000253106	Chromatin interaction
ENSG00000062716	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	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986208	0.92[EUR][1000 genomes]
rs16899649	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301437	0.92[EUR][1000 genomes]
rs4870899	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870902	1.00[EUR][1000 genomes]
rs4871493	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871496	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55872747	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55946925	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56158167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56291877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67764028	0.96[EUR][1000 genomes]
rs72713064	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713066	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713068	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713072	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713074	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713078	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713081	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713082	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713088	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713090	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713094	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714703	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714706	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714707	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714712	1.00[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	chr8:125550200-125552200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:125550200-125552200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:125550200-125552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125550200-125552200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:125550200-125552400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:125550200-125552400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:125550200-125552400	Active TSS	A549	lung
15	chr8:125550200-125552600	Active TSS	GM12878-XiMat	blood
16	chr8:125550200-125552800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:125550200-125552800	Active TSS	Right Atrium	heart
18	chr8:125550200-125553000	Active TSS	Psoas Muscle	Psoas
19	chr8:125550400-125552000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:125550400-125552000	Active TSS	Lung	lung
21	chr8:125550400-125552200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:125550400-125552200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:125550400-125552200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:125550400-125552200	Active TSS	Aorta	Aorta
25	chr8:125550400-125552200	Active TSS	NHEK	skin
26	chr8:125550400-125552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:125550400-125552400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:125550400-125552400	Active TSS	Left Ventricle	heart
29	chr8:125550400-125552400	Active TSS	Ovary	ovary
30	chr8:125550400-125552600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:125550400-125552800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:125550400-125553200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:125550600-125552000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:125550600-125552000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125550600-125552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr8:125550600-125552000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:125550600-125552000	Active TSS	Fetal Kidney	kidney
38	chr8:125550600-125552000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:125550600-125552000	Active TSS	Hela-S3	cervix
40	chr8:125550600-125552200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:125550600-125552200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:125550600-125552200	Active TSS	Brain Anterior Caudate	brain
43	chr8:125550600-125552200	Active TSS	Esophagus	oesophagus
44	chr8:125550600-125552200	Active TSS	Fetal Intestine Large	intestine
45	chr8:125550600-125552200	Active TSS	Pancreas	Pancrea
46	chr8:125550600-125552200	Active TSS	HMEC	breast
47	chr8:125550600-125552200	Active TSS	HSMM	muscle
48	chr8:125550600-125552400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:125550600-125552800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:125550600-125552800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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