Variant report

Variant	rs72968496
Chromosome Location	chr1:91795846-91795847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs34011609	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]
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]
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]
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:8 , 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	nsv437904	chr1:91790876-91801207	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv519110	chr1:91794248-91800946	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
2	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:91792800-91796200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:91793000-91797000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:91793800-91796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:91793800-91796600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:91794000-91796400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
14	chr1:91794400-91796600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:91794400-91796800	ZNF genes & repeats	Fetal Brain Female	brain
16	chr1:91794400-91802400	Weak transcription	Right Ventricle	heart
17	chr1:91794600-91802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:91794800-91799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:91794800-91804600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:91795000-91796600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:91795000-91803800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:91795200-91802400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:91795400-91796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:91795400-91803200	Weak transcription	Brain Germinal Matrix	brain
25	chr1:91795600-91797400	Weak transcription	Aorta	Aorta
26	chr1:91795600-91802400	Weak transcription	Fetal Lung	lung
27	chr1:91795600-91802400	Weak transcription	Ovary	ovary
28	chr1:91795600-91802400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:91795600-91802400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:91795600-91804200	Weak transcription	Pancreas	Pancrea
31	chr1:91795600-91804400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:91795600-91808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
34	chr1:91795800-91802400	Weak transcription	Fetal Stomach	stomach

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