Variant report

Variant	rs72970344
Chromosome Location	chr1:91841114-91841115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91840019..91844742-chr1:91867807..91870746,5	K562	blood:

Variant related genes	Relation type
ENSG00000162669	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1506786	1.00[AMR][1000 genomes]
rs2219395	1.00[AMR][1000 genomes]
rs34011609	1.00[AMR][1000 genomes]
rs4658227	1.00[AMR][1000 genomes]
rs471904	1.00[AMR][1000 genomes]
rs516593	1.00[AMR][1000 genomes]
rs517460	1.00[AMR][1000 genomes]
rs519523	1.00[AMR][1000 genomes]
rs529778	1.00[AMR][1000 genomes]
rs56796555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs582636	1.00[AMR][1000 genomes]
rs590931	1.00[AMR][1000 genomes]
rs594834	1.00[AMR][1000 genomes]
rs59894382	1.00[AMR][1000 genomes]
rs61475134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661449	1.00[AMR][1000 genomes]
rs72952916	1.00[AMR][1000 genomes]
rs72962519	1.00[AFR][1000 genomes]
rs72962547	1.00[AFR][1000 genomes]
rs72962549	1.00[AFR][1000 genomes]
rs72962551	1.00[AFR][1000 genomes]
rs72962574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970310	1.00[AFR][1000 genomes]
rs72970312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970321	1.00[AFR][1000 genomes]
rs72970324	1.00[AMR][1000 genomes]
rs72970332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr1:91819400-91845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:91820600-91842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:91822800-91849000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:91824800-91852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:91825000-91852600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:91829800-91852600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:91832000-91852600	Weak transcription	Fetal Heart	heart
8	chr1:91833000-91852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:91833000-91852600	Weak transcription	Fetal Stomach	stomach
10	chr1:91836800-91852600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:91837200-91846000	Weak transcription	Psoas Muscle	Psoas
12	chr1:91838000-91841200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:91838000-91841400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:91839000-91852600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:91839600-91841200	Strong transcription	Left Ventricle	heart
16	chr1:91839800-91846600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:91840400-91852600	Weak transcription	Fetal Kidney	kidney
18	chr1:91840600-91852600	Weak transcription	Ovary	ovary
19	chr1:91840800-91852600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:91840800-91852600	Weak transcription	Fetal Brain Male	brain
21	chr1:91840800-91852600	Weak transcription	Fetal Lung	lung

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