Variant report

Variant	rs72970312
Chromosome Location	chr1:91803833-91803834
allele	A/G
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:38)

rs_ID	r²[population]
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]
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]
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:7 , 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
7	esv3409917	chr1:91801864-91806862	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
7	chr1:91794800-91804600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:91795600-91804200	Weak transcription	Pancreas	Pancrea
9	chr1:91795600-91804400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:91795600-91808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
12	chr1:91796800-91807800	Weak transcription	Fetal Brain Male	brain
13	chr1:91798800-91805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:91799200-91804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:91800400-91810800	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:91801800-91804600	Strong transcription	Fetal Brain Female	brain
17	chr1:91802400-91804400	Strong transcription	Ovary	ovary
18	chr1:91802400-91804400	Strong transcription	Right Ventricle	heart
19	chr1:91802400-91804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:91802400-91804800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:91802400-91804800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:91802400-91804800	Strong transcription	Fetal Stomach	stomach
23	chr1:91802400-91804800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:91802600-91804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:91802800-91805200	Weak transcription	Right Atrium	heart
26	chr1:91802800-91810800	Weak transcription	Fetal Kidney	kidney
27	chr1:91803200-91804000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:91803200-91805200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:91803600-91804600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:91803600-91810800	Weak transcription	Fetal Lung	lung
31	chr1:91803800-91809200	Weak transcription	Brain Germinal Matrix	brain

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