Variant report

Variant	rs28676601
Chromosome Location	chr1:153468681-153468682
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153467594..153470337-chr1:153471683..153474675,2	K562	blood:
2	chr1:153457718..153462195-chr1:153468437..153470953,3	K562	blood:
3	chr1:153459205..153462195-chr1:153468437..153470623,2	K562	blood:
4	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
5	chr1:153468303..153470815-chr1:153474677..153477799,3	K562	blood:
6	chr1:153467541..153469828-chr1:153502709..153505691,2	K562	blood:
7	chr1:153466848..153469559-chr1:153579592..153581140,2	K562	blood:
8	chr1:153359777..153361314-chr1:153466006..153468984,2	MCF-7	breast:
9	chr1:153366171..153367906-chr1:153465906..153468901,2	MCF-7	breast:
10	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
11	chr1:153360492..153363183-chr1:153468119..153469650,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163218	Chromatin interaction
ENSG00000163220	Chromatin interaction
ENSG00000263841	Chromatin interaction
ENSG00000188643	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16835366	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835368	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835382	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16835393	0.82[ASN][1000 genomes]
rs17695220	0.85[ASN][1000 genomes]
rs1887039	0.82[ASN][1000 genomes]
rs1964151	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2339696	0.85[ASN][1000 genomes]
rs28410699	0.85[ASN][1000 genomes]
rs28464843	0.85[ASN][1000 genomes]
rs28632016	0.88[ASN][1000 genomes]
rs28635377	0.88[ASN][1000 genomes]
rs28707433	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879553	0.83[ASN][1000 genomes]
rs3915524	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845548	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845549	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845550	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845551	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845552	0.88[ASN][1000 genomes]
rs4845553	0.88[ASN][1000 genomes]
rs4845554	0.82[ASN][1000 genomes]
rs6587743	0.85[ASN][1000 genomes]
rs6587745	0.85[ASN][1000 genomes]
rs6587746	0.85[ASN][1000 genomes]
rs6660055	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672390	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6679509	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690638	0.82[ASN][1000 genomes]
rs6690712	0.82[ASN][1000 genomes]
rs6696893	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7515940	0.82[ASN][1000 genomes]
rs7520093	0.85[ASN][1000 genomes]
rs7534343	0.83[ASN][1000 genomes]
rs7534347	0.85[ASN][1000 genomes]
rs7534830	0.82[ASN][1000 genomes]
rs7537898	0.82[ASN][1000 genomes]
rs7544359	0.82[ASN][1000 genomes]
rs9436094	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436095	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28676601	RN7SL44P	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153462800-153479000	Weak transcription	Right Atrium	heart
2	chr1:153464000-153469600	Weak transcription	Fetal Lung	lung
3	chr1:153464400-153471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:153466200-153471200	Weak transcription	Aorta	Aorta
5	chr1:153467200-153478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:153467800-153469200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:153468000-153470800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:153468400-153469400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:153468400-153471000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:153468400-153471000	Weak transcription	Ovary	ovary
11	chr1:153468400-153479000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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