Variant report

Variant	rs566085
Chromosome Location	chr1:225764716-225764717
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	chr1:225749423..225753817-chr1:225762861..225765930,3	K562	blood:
2	chr1:225762925..225765208-chr1:225770606..225772891,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10082003	0.83[AMR][1000 genomes]
rs10915853	0.85[AMR][1000 genomes]
rs1222434	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1222439	0.88[EUR][1000 genomes]
rs1336480	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1360958	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764345	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1764347	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1771318	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2035916	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3904084	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs475794	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs481746	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499385	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516323	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525062	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526221	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs544404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544430	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59363938	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72750896	0.82[EUR][1000 genomes]
rs7545317	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954534	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9651009	0.90[AMR][1000 genomes];0.91[EUR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225730600-225765800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
3	chr1:225744800-225768200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:225744800-225768600	Weak transcription	Fetal Brain Male	brain
5	chr1:225745000-225770000	Weak transcription	HUVEC	blood vessel
6	chr1:225745000-225772800	Weak transcription	Fetal Brain Female	brain
7	chr1:225747800-225765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:225748800-225765800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:225754400-225769400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:225754600-225766000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:225755200-225766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:225755200-225772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:225755400-225765000	Weak transcription	HSMM	muscle
16	chr1:225756600-225765000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:225756600-225767600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:225756800-225765400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:225757000-225765000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:225757000-225765000	Weak transcription	NHLF	lung
21	chr1:225758200-225765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:225758600-225765000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:225759400-225769600	Weak transcription	Lung	lung
24	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
25	chr1:225760000-225765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:225760000-225769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:225760800-225764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:225761200-225765800	Weak transcription	Fetal Kidney	kidney
30	chr1:225761600-225765000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:225761800-225765800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:225762000-225768600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:225762800-225766400	Enhancers	Brain Angular Gyrus	brain
34	chr1:225763000-225765400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:225763000-225766600	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:225763200-225765200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:225763200-225766400	Enhancers	Colon Smooth Muscle	Colon
38	chr1:225763400-225766600	Enhancers	A549	lung
39	chr1:225763600-225765200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:225763600-225765200	Enhancers	Fetal Thymus	thymus
41	chr1:225763800-225764800	Enhancers	Left Ventricle	heart
42	chr1:225763800-225765000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:225763800-225768200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:225764000-225768000	Weak transcription	Psoas Muscle	Psoas
45	chr1:225764200-225764800	Enhancers	NH-A	brain
46	chr1:225764200-225765600	Enhancers	Brain Substantia Nigra	brain
47	chr1:225764200-225765800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:225764200-225766400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:225764200-225766400	Enhancers	Brain Anterior Caudate	brain
50	chr1:225764200-225766600	Enhancers	Fetal Lung	lung

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