Variant report

Variant	rs72713055
Chromosome Location	chr8:125490551-125490552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125490541-125490766	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
2	chr8:125490493..125493042-chr8:125507947..125510493,3	MCF-7	breast:
3	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
4	chr8:125487680..125490631-chr8:125553393..125557041,3	MCF-7	breast:
5	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
6	chr8:125488174..125490894-chr8:126019892..126022502,2	K562	blood:
7	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:

No data

Variant related genes	Relation type
RNF139-AS1	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253319	0.97[ASN][1000 genomes]
rs16899643	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899656	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298171	0.86[EUR][1000 genomes]
rs3812470	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829033	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829037	0.85[ASN][1000 genomes]
rs4330675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4621790	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57929284	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989097	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997089	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017148	0.88[ASN][1000 genomes]
rs71516748	0.97[ASN][1000 genomes]
rs72713019	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713073	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713075	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713077	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713084	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713096	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73704274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	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

No data

Chromatin state (count:114 , 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	chr8:125489000-125490600	Weak transcription	Left Ventricle	heart
6	chr8:125489000-125491800	Weak transcription	Pancreas	Pancrea
7	chr8:125489000-125496200	Weak transcription	Colonic Mucosa	Colon
8	chr8:125489000-125497200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:125489000-125498200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:125489000-125498200	Weak transcription	Placenta	Placenta
11	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:125489000-125541200	Weak transcription	Gastric	stomach
17	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
18	chr8:125489200-125490600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:125489200-125490600	Enhancers	Fetal Lung	lung
20	chr8:125489200-125490600	Enhancers	NHDF-Ad	bronchial
21	chr8:125489200-125491000	Weak transcription	Ovary	ovary
22	chr8:125489200-125491400	Weak transcription	Psoas Muscle	Psoas
23	chr8:125489200-125491800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:125489200-125491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:125489200-125492800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:125489200-125492800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:125489200-125493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:125489200-125493600	Enhancers	Adipose Nuclei	Adipose
29	chr8:125489200-125494200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:125489200-125495800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:125489200-125496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:125489200-125496200	Weak transcription	Fetal Stomach	stomach
33	chr8:125489200-125496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:125489200-125496400	Weak transcription	NH-A	brain
35	chr8:125489200-125497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:125489200-125498000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:125489200-125498000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:125489200-125498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:125489200-125498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:125489200-125498200	Weak transcription	Aorta	Aorta
41	chr8:125489200-125498200	Weak transcription	Right Ventricle	heart
42	chr8:125489200-125498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:125489200-125498200	Weak transcription	Thymus	Thymus
44	chr8:125489200-125498400	Weak transcription	Fetal Brain Male	brain
45	chr8:125489200-125498600	Weak transcription	A549	lung
46	chr8:125489200-125498600	Weak transcription	HSMMtube	muscle
47	chr8:125489400-125490800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:125489400-125491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:125489400-125491200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:125489400-125491200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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