Variant report

Variant	rs72720560
Chromosome Location	chr8:126232162-126232163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
2	chr8:126231493..126234297-chr8:126657283..126660100,2	MCF-7	breast:
3	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
4	chr8:126229898..126232632-chr8:126442364..126444090,4	MCF-7	breast:
5	chr8:126101602..126103969-chr8:126231664..126234229,2	K562	blood:
6	chr8:126231336..126233903-chr8:126235720..126238496,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12544146	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900402	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740518	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55843815	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55992026	0.91[EUR][1000 genomes]
rs72720529	0.85[EUR][1000 genomes]
rs72720531	0.89[EUR][1000 genomes]
rs72720532	0.91[EUR][1000 genomes]
rs72720536	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720538	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72720547	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720553	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720554	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720555	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7460712	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
4	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
7	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:126226600-126235000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:126226800-126232200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:126226800-126233400	Weak transcription	Esophagus	oesophagus
12	chr8:126226800-126233400	Weak transcription	Gastric	stomach
13	chr8:126226800-126233400	Weak transcription	Left Ventricle	heart
14	chr8:126226800-126233400	Weak transcription	Lung	lung
15	chr8:126226800-126233400	Weak transcription	Psoas Muscle	Psoas
16	chr8:126226800-126233400	Weak transcription	Right Atrium	heart
17	chr8:126226800-126238600	Weak transcription	Spleen	Spleen
18	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
19	chr8:126227000-126233200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:126228400-126233400	Weak transcription	Pancreas	Pancrea
21	chr8:126229000-126233400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:126229000-126233800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:126229000-126233800	Enhancers	Fetal Heart	heart
24	chr8:126229800-126232600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:126229800-126239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:126230000-126233200	Enhancers	Hela-S3	cervix
27	chr8:126230000-126233800	Enhancers	Fetal Intestine Large	intestine
28	chr8:126230000-126233800	Enhancers	Fetal Intestine Small	intestine
29	chr8:126230000-126233800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:126230000-126233800	Enhancers	HSMM	muscle
31	chr8:126230000-126238600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:126230000-126240000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:126230400-126233600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:126230400-126233600	Enhancers	Stomach Mucosa	stomach
35	chr8:126230800-126233600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:126231000-126232600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:126231000-126232600	Enhancers	Brain Angular Gyrus	brain
38	chr8:126231000-126232600	Enhancers	Fetal Kidney	kidney
39	chr8:126231000-126232800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:126231000-126232800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:126231000-126233000	Enhancers	NHLF	lung
42	chr8:126231000-126233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:126231000-126233600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:126231000-126234200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:126231000-126234200	Enhancers	HMEC	breast
46	chr8:126231200-126232400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr8:126231200-126232400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:126231200-126232400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:126231200-126232400	Enhancers	Brain Anterior Caudate	brain
50	chr8:126231200-126232400	Enhancers	Brain Cingulate Gyrus	brain

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