Variant report

Variant	rs10494680
Chromosome Location	chr1:193428746-193428747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027971	0.97[EUR][1000 genomes]
rs12035086	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12037892	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12043289	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12043960	0.81[AMR][1000 genomes]
rs12044333	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1324329	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835376	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1886294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886295	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147304	0.98[EUR][1000 genomes]
rs4474226	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657751	0.98[EUR][1000 genomes]
rs6656737	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7417352	0.98[EUR][1000 genomes]
rs7516432	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7524847	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528241	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7538630	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][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	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548661	chr1:193391298-193470234	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv832170	chr1:193426455-193596182	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193425600-193428800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:193426000-193431000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:193426200-193430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193427200-193430000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:193427200-193430600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:193427200-193430800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:193427200-193431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:193427200-193431800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:193427400-193429400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:193427600-193428800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:193428000-193429000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:193428400-193429200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:193428400-193429400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:193428600-193429000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:193428600-193429400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:193428600-193429800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:193428600-193430600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:193428600-193430800	Weak transcription	Fetal Lung	lung
19	chr1:193428600-193432200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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