Variant report

Variant	rs67280698
Chromosome Location	chr4:79539696-79539697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79539469..79541784-chr4:79542967..79545654,2	K562	blood:
2	chr4:79517752..79520186-chr4:79537691..79539764,2	K562	blood:

Variant related genes	Relation type
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1042515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725235	0.84[ASN][1000 genomes]
rs11727844	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11728517	0.86[ASN][1000 genomes]
rs12640075	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003396	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628566	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56023152	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57415147	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57896096	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58089913	0.84[ASN][1000 genomes]
rs59133103	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5942	0.83[ASN][1000 genomes]
rs5950	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817792	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6819559	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836185	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837823	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72607862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607864	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72607865	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72607866	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7661370	0.92[ASN][1000 genomes]
rs7668240	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7672903	0.84[ASN][1000 genomes]
rs7686273	0.92[ASN][1000 genomes]
rs7694152	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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79491800-79542600	Weak transcription	NH-A	brain
2	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
4	chr4:79524200-79543400	Weak transcription	A549	lung
5	chr4:79527800-79542600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:79527800-79542600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:79530000-79540000	Enhancers	Primary T cells from cord blood	blood
8	chr4:79531400-79543000	Weak transcription	Hela-S3	cervix
9	chr4:79531800-79543200	Weak transcription	HUVEC	blood vessel
10	chr4:79533800-79541000	Enhancers	Fetal Intestine Small	intestine
11	chr4:79533800-79548800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:79534600-79547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:79535400-79542600	Weak transcription	Placenta	Placenta
14	chr4:79535600-79543000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79536400-79550600	Weak transcription	Left Ventricle	heart
16	chr4:79536800-79542600	Weak transcription	Right Atrium	heart
17	chr4:79537000-79545800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:79537800-79542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:79537800-79543400	Weak transcription	HSMM	muscle
20	chr4:79538200-79542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:79538200-79543000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:79538400-79542400	Enhancers	K562	blood
23	chr4:79539000-79540800	Enhancers	Fetal Intestine Large	intestine
24	chr4:79539200-79539800	Enhancers	GM12878-XiMat	blood
25	chr4:79539200-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:79539400-79540200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:79539400-79550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:79539600-79542600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:79539600-79542600	Weak transcription	NHDF-Ad	bronchial
30	chr4:79539600-79550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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