Variant report

Variant	rs4991703
Chromosome Location	chr1:184351419-184351420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184348421..184352484-chr1:184354779..184358416,5	MCF-7	breast:
2	chr1:184349850..184351916-chr1:184352544..184355292,2	K562	blood:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

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

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

rs_ID	r²[population]
rs10494580	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737252	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10752936	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10752937	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797960	0.91[EUR][1000 genomes]
rs10797961	0.93[EUR][1000 genomes]
rs10911589	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911590	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911591	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10911592	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12029316	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12070787	0.84[EUR][1000 genomes]
rs16823101	0.86[ASN][1000 genomes]
rs4326589	0.86[ASN][1000 genomes]
rs4384189	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4478778	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4512607	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4631655	0.86[ASN][1000 genomes]
rs4991700	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424950	0.86[ASN][1000 genomes]
rs6659035	0.92[EUR][1000 genomes]
rs6692317	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7367466	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7415961	0.86[ASN][1000 genomes]
rs7542578	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184337400-184355000	Weak transcription	Psoas Muscle	Psoas
2	chr1:184346000-184355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:184346200-184355000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:184346400-184351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:184348400-184352200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:184348400-184355000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:184348600-184351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184348600-184352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:184348800-184355000	Weak transcription	Fetal Heart	heart
10	chr1:184348800-184355000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:184349000-184351800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:184349000-184355000	Weak transcription	NHLF	lung
13	chr1:184350400-184355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:184350400-184355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:184350600-184352800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:184350600-184354600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:184350600-184355000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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