Variant report

Variant	rs6664597
Chromosome Location	chr1:67149522-67149523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67145865..67147453-chr1:67149356..67152142,2	K562	blood:
2	chr1:67139502..67143000-chr1:67146148..67149567,3	K562	blood:
3	chr1:67048310..67050858-chr1:67148438..67150245,2	K562	blood:
4	chr1:67135212..67136750-chr1:67148329..67150390,2	K562	blood:

Variant related genes	Relation type
ENSG00000118473	Chromatin interaction
ENSG00000248458	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10749764	1.00[ASN][1000 genomes]
rs11208940	0.87[ASN][1000 genomes]
rs12094526	0.86[ASN][1000 genomes]
rs13376692	0.81[EUR][1000 genomes]
rs17129252	0.80[EUR][1000 genomes]
rs17129269	0.83[EUR][1000 genomes]
rs17129307	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17440390	0.86[EUR][1000 genomes]
rs2182110	0.81[EUR][1000 genomes]
rs55895340	0.81[EUR][1000 genomes]
rs6664403	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670827	0.86[ASN][1000 genomes]
rs6694782	0.86[ASN][1000 genomes]
rs72669463	0.81[EUR][1000 genomes]
rs72669465	0.81[EUR][1000 genomes]
rs72669469	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72669472	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669475	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72669488	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74085003	0.83[EUR][1000 genomes]
rs7536634	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7540244	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7545674	0.81[EUR][1000 genomes]
rs7549727	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:67137600-67155000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:67137800-67155000	Weak transcription	Fetal Brain Male	brain
9	chr1:67138000-67154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:67140400-67154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
12	chr1:67143400-67149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:67143600-67149600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:67144600-67155000	Weak transcription	Left Ventricle	heart
15	chr1:67144600-67160800	Weak transcription	Lung	lung
16	chr1:67145000-67150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:67145400-67150200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:67146200-67154800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:67147600-67150600	Weak transcription	Osteobl	bone
20	chr1:67147600-67150800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:67147600-67151000	Weak transcription	NHDF-Ad	bronchial
22	chr1:67147800-67150800	Weak transcription	NH-A	brain
23	chr1:67147800-67151000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:67147800-67151200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:67148200-67156600	Weak transcription	Aorta	Aorta
26	chr1:67148400-67154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:67148400-67154800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:67148400-67155000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:67148600-67150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:67148800-67154800	Weak transcription	NHLF	lung
31	chr1:67149000-67150000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:67149000-67150200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:67149000-67150400	Enhancers	Dnd41	blood
34	chr1:67149000-67154800	Weak transcription	Fetal Brain Female	brain
35	chr1:67149200-67149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:67149200-67161000	Weak transcription	Primary hematopoietic stem cells	blood

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