Variant report

Variant	rs72720601
Chromosome Location	chr8:126354850-126354851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126341424..126343336-chr8:126353093..126355921,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126337105..126338773-chr8:126354692..126356214,2	K562	blood:
4	chr8:126218358..126220845-chr8:126354499..126357060,2	K562	blood:
5	chr8:126349657..126352524-chr8:126353800..126356280,3	K562	blood:
6	chr8:126347469..126349929-chr8:126354038..126356701,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12541675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545844	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549614	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893118	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900538	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16900559	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16900568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385094	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28895930	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35309384	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55808842	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913855	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994510	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015929	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72720592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72720595	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72720597	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722605	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722614	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72722617	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	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
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
5	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:126348800-126369800	Weak transcription	Gastric	stomach
10	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:126352800-126355000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:126353000-126355000	Enhancers	HSMMtube	muscle
15	chr8:126353000-126355200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126353000-126355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr8:126353200-126355000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:126353200-126355600	Enhancers	Small Intestine	intestine
19	chr8:126353200-126356000	Enhancers	Fetal Thymus	thymus
20	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:126353400-126355000	Enhancers	Psoas Muscle	Psoas
22	chr8:126353400-126355200	Enhancers	HSMM	muscle
23	chr8:126353400-126355600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:126353400-126355600	Enhancers	Adipose Nuclei	Adipose
25	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:126353600-126355200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:126353600-126355200	Enhancers	K562	blood
29	chr8:126353600-126355400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:126353600-126355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:126353600-126356400	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:126353800-126355000	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:126353800-126355000	Enhancers	Fetal Intestine Large	intestine
35	chr8:126353800-126355200	Enhancers	Fetal Intestine Small	intestine
36	chr8:126354000-126355200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:126354000-126355200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:126354000-126355200	Enhancers	Stomach Mucosa	stomach
39	chr8:126354000-126355600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:126354200-126355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:126354200-126355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:126354200-126355000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:126354200-126355000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:126354200-126355000	Enhancers	NHEK	skin
46	chr8:126354200-126355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:126354200-126355200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:126354200-126355200	Enhancers	Fetal Lung	lung
49	chr8:126354200-126355200	Enhancers	Left Ventricle	heart
50	chr8:126354200-126355200	Enhancers	Rectal Smooth Muscle	rectum

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