Variant report

Variant	rs949571
Chromosome Location	chr1:197313189-197313190
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	chr1:197311284..197313635-chr1:197316470..197319099,2	K562	blood:
2	chr1:197165634..197167836-chr1:197312237..197315122,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10801603	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12126335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1337167	0.94[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs1337168	0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs17618358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2359151	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2476023	0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2759656	0.81[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2786098	0.94[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2786100	0.94[ASN][1000 genomes]
rs2786101	0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs2786103	0.94[ASN][1000 genomes]
rs2786116	0.94[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs2786117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2786119	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2821107	0.87[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2821115	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs2821116	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs2821117	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs2821125	0.94[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4915231	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4915506	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4915511	0.81[AFR][1000 genomes]
rs4915525	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4915526	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6428397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7551088	0.84[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197299000-197323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197312800-197313400	Enhancers	HSMMtube	muscle
3	chr1:197312800-197313600	Enhancers	Brain Hippocampus Middle	brain
4	chr1:197312800-197313800	Enhancers	Brain Anterior Caudate	brain
5	chr1:197312800-197313800	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr1:197313000-197313400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:197313000-197313600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:197313000-197313600	Enhancers	Left Ventricle	heart
9	chr1:197313000-197313600	Active TSS	Psoas Muscle	Psoas
10	chr1:197313000-197313600	Enhancers	Right Ventricle	heart

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