Variant report

Variant	rs72713064
Chromosome Location	chr8:125496224-125496225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:125496222-125496703	T-47D	breast:	n/a	n/a
2	POLR2A	chr8:125496033-125496500	K562	blood:	n/a	n/a
3	FOXA1	chr8:125496200-125496603	T-47D	breast:	n/a	n/a
4	FOXA1	chr8:125496154-125496527	HepG2	liver:	n/a	n/a
5	E2F4	chr8:125496142-125496342	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA1	chr8:125496199-125496507	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125495517..125498370-chr8:125499214..125502183,3	MCF-7	breast:
2	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
3	chr8:125494945..125497543-chr8:125548660..125551608,2	K562	blood:

Variant related genes	Relation type
ENSG00000253106	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000253106	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11542673	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986208	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16899649	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829038	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4301437	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4870899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870902	0.96[EUR][1000 genomes]
rs4871493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871496	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55872747	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55946925	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56158167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56291877	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62527884	0.83[AFR][1000 genomes]
rs67764028	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713049	0.83[AFR][1000 genomes]
rs72713066	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713068	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713074	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713078	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713081	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713082	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713088	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713090	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713094	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713101	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714703	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714704	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714706	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714707	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714712	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7834203	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3329643	chr8:125494521-125496369	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125498200	Weak transcription	Esophagus	oesophagus
3	chr8:125488200-125515800	Weak transcription	Lung	lung
4	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125489000-125497200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:125489000-125498200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:125489000-125498200	Weak transcription	Placenta	Placenta
8	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:125489000-125541200	Weak transcription	Gastric	stomach
14	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
15	chr8:125489200-125496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125489200-125496400	Weak transcription	NH-A	brain
17	chr8:125489200-125497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:125489200-125498000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:125489200-125498000	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:125489200-125498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:125489200-125498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:125489200-125498200	Weak transcription	Aorta	Aorta
23	chr8:125489200-125498200	Weak transcription	Right Ventricle	heart
24	chr8:125489200-125498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:125489200-125498200	Weak transcription	Thymus	Thymus
26	chr8:125489200-125498400	Weak transcription	Fetal Brain Male	brain
27	chr8:125489200-125498600	Weak transcription	A549	lung
28	chr8:125489200-125498600	Weak transcription	HSMMtube	muscle
29	chr8:125489400-125497800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:125489400-125498000	Weak transcription	Fetal Kidney	kidney
31	chr8:125489400-125498000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:125489400-125498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:125489400-125498200	Weak transcription	HSMM	muscle
34	chr8:125489400-125498400	Weak transcription	NHEK	skin
35	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
36	chr8:125489600-125497800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:125489600-125498000	Weak transcription	Fetal Intestine Large	intestine
38	chr8:125489600-125498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:125489600-125498200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:125489600-125498200	Weak transcription	HMEC	breast
41	chr8:125489600-125498600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:125489800-125496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:125489800-125498000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:125490000-125497200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:125490000-125498200	Weak transcription	HUVEC	blood vessel
46	chr8:125490000-125498400	Weak transcription	Hela-S3	cervix
47	chr8:125490200-125498000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:125490400-125498000	Weak transcription	Fetal Brain Female	brain
49	chr8:125490600-125498000	Weak transcription	Fetal Thymus	thymus
50	chr8:125491800-125498000	Weak transcription	Primary T cells from cord blood	blood

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