Variant report

Variant	rs10911590
Chromosome Location	chr1:184349466-184349467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184348421..184352484-chr1:184354779..184358416,5	MCF-7	breast:
2	chr1:184348610..184350155-chr1:184363065..184365309,2	K562	blood:
3	chr1:184347794..184350297-chr1:184351548..184353524,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction
ENSG00000116667	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	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737252	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10752936	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10752937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797960	0.93[EUR][1000 genomes]
rs10797961	0.96[EUR][1000 genomes]
rs10911589	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911591	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10911592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070787	0.85[EUR][1000 genomes]
rs16823101	0.89[ASN][1000 genomes]
rs4326589	0.89[ASN][1000 genomes]
rs4384189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478778	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4512607	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631655	0.89[ASN][1000 genomes]
rs4991700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4991703	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424950	0.89[ASN][1000 genomes]
rs6659035	0.95[EUR][1000 genomes]
rs6692317	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7367466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7415961	0.89[ASN][1000 genomes]
rs7542578	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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:19 , 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	chr1:184347600-184350600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:184348000-184350400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:184348000-184350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:184348200-184350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:184348400-184352200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:184348400-184355000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:184348600-184349800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:184348600-184351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184348600-184352000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:184348800-184355000	Weak transcription	Fetal Heart	heart
15	chr1:184348800-184355000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:184349000-184351800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:184349000-184355000	Weak transcription	NHLF	lung
18	chr1:184349400-184350200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:184349400-184350600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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