Variant report

Variant	rs94216
Chromosome Location	chr1:57784669-57784670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1077424	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1077425	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889035	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889036	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889037	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11207010	0.86[ASN][1000 genomes]
rs11207011	0.83[ASN][1000 genomes]
rs11207012	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207013	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207014	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207015	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11207017	0.80[EUR][1000 genomes]
rs1149630	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085326	0.90[ASN][1000 genomes]
rs12087888	0.86[ASN][1000 genomes]
rs12119147	0.90[EUR][1000 genomes]
rs12119210	0.83[EUR][1000 genomes]
rs12126723	0.83[EUR][1000 genomes]
rs12128305	0.86[ASN][1000 genomes]
rs1240439	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1262815	0.84[AFR][1000 genomes]
rs12741210	0.80[EUR][1000 genomes]
rs1424465	0.80[EUR][1000 genomes]
rs1424470	0.83[EUR][1000 genomes]
rs1504594	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs166514	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1809976	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862925	0.80[EUR][1000 genomes]
rs2113456	0.81[ASN][1000 genomes]
rs2161808	0.82[EUR][1000 genomes]
rs267638	0.97[ASN][1000 genomes]
rs267646	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs267647	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs267650	0.86[ASN][1000 genomes]
rs28706213	0.83[ASN][1000 genomes]
rs35804651	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374845	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390203	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs439378	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61769668	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6677561	0.83[EUR][1000 genomes]
rs6687934	0.81[EUR][1000 genomes]
rs736109	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736110	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746937	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543805	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547509	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs77510	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs77511	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs882283	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs90940	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs924848	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57779800-57784800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57779800-57784800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57780400-57787000	Weak transcription	Fetal Brain Male	brain
6	chr1:57784000-57785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:57784000-57785400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57784600-57784800	Enhancers	Brain Angular Gyrus	brain
9	chr1:57784600-57785000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:57784600-57785200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:57784600-57785200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:57784600-57785200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:57784600-57785200	Enhancers	Fetal Muscle Leg	muscle
14	chr1:57784600-57785400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:57784600-57785400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:57784600-57785400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:57784600-57785400	Enhancers	Fetal Brain Female	brain
18	chr1:57784600-57785600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:57784600-57785600	Enhancers	Hela-S3	cervix
20	chr1:57784600-57785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:57784600-57785800	Enhancers	Fetal Lung	lung
22	chr1:57784600-57786000	Enhancers	Duodenum Mucosa	Duodenum

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