Variant report

Variant	rs12760593
Chromosome Location	chr1:183951954-183951955
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183950714..183953457-chr1:184019410..184021157,2	K562	blood:
2	chr1:183943394..183945355-chr1:183948434..183952348,4	K562	blood:
3	chr1:183950977..183955895-chr1:183999343..184002420,4	K562	blood:
4	chr1:183951094..183952829-chr1:183954460..183956370,2	K562	blood:
5	chr1:183950977..183953619-chr1:184000734..184002420,2	K562	blood:
6	chr1:183947929..183952314-chr1:184019295..184023584,6	K562	blood:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10797927	1.00[CEU][hapmap]
rs12089543	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727244	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741795	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746606	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748062	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753441	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12756153	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756229	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758284	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34922778	1.00[ASN][1000 genomes]
rs35418511	1.00[ASN][1000 genomes]
rs4650648	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651163	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751411	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832026	chr1:183785065-183961847	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183920200-183952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
4	chr1:183926600-183952200	Weak transcription	NHLF	lung
5	chr1:183938000-183952200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:183938400-183952200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:183938600-183952800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:183945000-183952400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:183948800-183952000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:183949000-183952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:183950800-183954800	Weak transcription	Right Atrium	heart
12	chr1:183951200-183952200	Enhancers	Brain Hippocampus Middle	brain
13	chr1:183951200-183952200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:183951200-183952400	Enhancers	Brain Anterior Caudate	brain
15	chr1:183951200-183952400	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:183951200-183952400	Enhancers	Brain Substantia Nigra	brain
17	chr1:183951200-183953000	Enhancers	K562	blood
18	chr1:183951400-183955000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:183951600-183952200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:183951600-183952400	Enhancers	Brain Angular Gyrus	brain
21	chr1:183951800-183952400	Enhancers	Brain Germinal Matrix	brain

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