Variant report

Variant	rs7748319
Chromosome Location	chr6:28703149-28703150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27774714..27777094-chr6:28701466..28704120,2	K562	blood:
2	chr6:28701813..28704465-chr6:28720205..28723280,3	K562	blood:
3	chr6:27869505..27871710-chr6:28702327..28704726,2	K562	blood:
4	chr6:28699538..28701442-chr6:28701623..28703902,3	K562	blood:
5	chr6:28694465..28699409-chr6:28701823..28706376,12	K562	blood:
6	chr6:28702781..28705852-chr6:28730775..28732422,3	K562	blood:
7	chr6:28700497..28703412-chr6:28724677..28728589,3	K562	blood:
8	chr6:28701062..28703950-chr6:33822430..33824102,2	MCF-7	breast:
9	chr6:28703036..28704771-chr6:28709650..28711944,2	MCF-7	breast:
10	chr6:28701328..28705041-chr6:28730739..28732422,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000237425	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10498733	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1107160	0.81[ASN][1000 genomes]
rs1233582	0.96[ASN][1000 genomes]
rs17280797	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17280818	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17281186	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17346574	0.92[ASN][1000 genomes]
rs17398081	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1891757	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1936180	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3999045	0.90[AMR][1000 genomes]
rs55641015	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55659253	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55764335	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55891766	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56003969	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56098960	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56165011	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56296645	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56384403	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57170714	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57693980	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57748269	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57791058	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57965355	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58104924	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58238888	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58258185	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58288624	0.80[EUR][1000 genomes]
rs59233561	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59475656	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59959723	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs60252686	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60311527	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61094745	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61208746	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61657599	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61703239	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6901325	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6905871	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6906105	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6906506	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6909960	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916286	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6923795	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7738101	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7742889	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7751451	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7751884	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7754365	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7755641	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7758798	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7760656	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7765829	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7766599	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7772111	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7772373	0.80[EUR][1000 genomes]
rs7772482	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7772682	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9688414	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9767343	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9767359	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28702000-28703800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:28702200-28705600	Active TSS	A549	lung
3	chr6:28702400-28703200	Active TSS	Placenta	Placenta
4	chr6:28702400-28703200	Bivalent Enhancer	HepG2	liver
5	chr6:28702400-28703800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28702600-28703200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:28702800-28703800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:28702800-28704000	Active TSS	K562	blood
9	chr6:28703000-28703200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr6:28703000-28703200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:28703000-28703200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr6:28703000-28703200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28703000-28703200	Bivalent Enhancer	Brain Substantia Nigra	brain
14	chr6:28703000-28703200	Flanking Active TSS	NHEK	skin
15	chr6:28703000-28703400	Bivalent Enhancer	Osteobl	bone
16	chr6:28703000-28703600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:28703000-28703600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:28703000-28703600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:28703000-28703600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:28703000-28703800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:28703000-28704000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:28703000-28704000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:28703000-28704000	Flanking Active TSS	HMEC	breast
24	chr6:28703000-28705200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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