Variant report

Variant	rs72720569
Chromosome Location	chr8:126258407-126258408
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126255433..126260408-chr8:126440662..126444695,4	K562	blood:
2	chr8:126256636..126259049-chr8:126440977..126443965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12675943	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681602	0.92[ASN][1000 genomes]
rs13253942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13254947	0.88[EUR][1000 genomes]
rs13259062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13264500	0.90[EUR][1000 genomes]
rs13267325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13273034	0.83[EUR][1000 genomes]
rs13273231	0.88[EUR][1000 genomes]
rs13273421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13277490	0.88[EUR][1000 genomes]
rs16900452	0.88[EUR][1000 genomes]
rs17310558	0.88[EUR][1000 genomes]
rs17401283	0.88[EUR][1000 genomes]
rs2384882	0.88[EUR][1000 genomes]
rs34110249	0.88[EUR][1000 genomes]
rs34246020	0.88[EUR][1000 genomes]
rs34298715	0.88[EUR][1000 genomes]
rs34313605	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34427316	0.88[EUR][1000 genomes]
rs34448805	0.88[EUR][1000 genomes]
rs34461511	0.86[EUR][1000 genomes]
rs34737949	0.88[EUR][1000 genomes]
rs34903473	0.86[EUR][1000 genomes]
rs35033076	0.88[EUR][1000 genomes]
rs35140299	0.88[EUR][1000 genomes]
rs35215140	0.88[EUR][1000 genomes]
rs35336507	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35401436	0.88[EUR][1000 genomes]
rs35475899	0.88[EUR][1000 genomes]
rs35564243	0.88[EUR][1000 genomes]
rs35774093	0.88[EUR][1000 genomes]
rs35822368	0.88[EUR][1000 genomes]
rs35861494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35955519	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35991395	0.88[EUR][1000 genomes]
rs3923300	0.86[EUR][1000 genomes]
rs4360308	0.88[EUR][1000 genomes]
rs4477044	0.88[EUR][1000 genomes]
rs4601329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135036	0.92[EUR][1000 genomes]
rs66561774	0.88[EUR][1000 genomes]
rs66826725	0.84[EUR][1000 genomes]
rs66929016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71516769	0.82[EUR][1000 genomes]
rs72720550	0.88[EUR][1000 genomes]
rs868227	0.86[EUR][1000 genomes];0.95[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
3	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
6	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
7	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:126247200-126265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:126250200-126265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:126251400-126272000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:126251600-126265000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:126251600-126265200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:126254000-126270400	Weak transcription	Hela-S3	cervix
14	chr8:126255200-126268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:126255200-126271600	Weak transcription	Right Atrium	heart
16	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
17	chr8:126256200-126271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:126256400-126271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:126256600-126268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:126257400-126273600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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