Variant report

Variant	rs72970332
Chromosome Location	chr1:91822097-91822098
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
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]
rs72970344	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:6 , 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	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
2	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
3	chr1:91804400-91824200	Weak transcription	Ovary	ovary
4	chr1:91804400-91824200	Weak transcription	Pancreas	Pancrea
5	chr1:91804800-91824200	Weak transcription	Fetal Stomach	stomach
6	chr1:91804800-91824200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:91811200-91824800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:91811600-91824400	Weak transcription	Fetal Kidney	kidney
9	chr1:91813400-91829600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:91816800-91824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:91818200-91831200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:91818600-91824600	Weak transcription	Fetal Brain Male	brain
13	chr1:91819200-91823200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:91819400-91845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:91820600-91822800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:91820600-91842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:91820800-91832000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:91821000-91824200	Weak transcription	Fetal Lung	lung
19	chr1:91821000-91824200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:91821200-91824200	Weak transcription	Brain Germinal Matrix	brain
21	chr1:91821200-91824200	Weak transcription	Psoas Muscle	Psoas
22	chr1:91821400-91822600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:91821800-91832200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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